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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KDM1A	23028	broad.mit.edu	37	1	23405551	23405551	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:23405551C>G	uc001bgi.2	+	14	2013	c.1864C>G	c.(1864-1866)Ctc>Gtc	p.L622V	KDM1A_uc001bgj.2_Missense_Mutation_p.L646V	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	622	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						CGACGCAGTTCTCTGTACCCT	0.517000														139			42		0	0	1	0	0
SNRNP40	9410	broad.mit.edu	37	1	31762188	31762188	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:31762188C>T	uc010oge.2	-	3	490	c.444G>A	c.(442-444)aaG>aaA	p.K148K	SNRNP40_uc001bso.3_Silent_p.K148K	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA.	148						U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AAGTATGTCCCTTTAGCCTTT	0.458000														102			169		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108822756	108822756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:108822756C>T	uc003dxl.3	-	3	250	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	MORC1_uc011bhn.2_Missense_Mutation_p.E55K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	55					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGCAGTTTTTCATTATCCACT	0.383000														86			24		0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104682758	104682758	+	Silent	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:104682758C>G	uc021rcx.1	+	3	376	c.354C>G	c.(352-354)acC>acG	p.T118T	TXNRD1_uc021rcy.1_Silent_p.T20T|TXNRD1_uc021rcz.1_5'UTR|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_5'UTR|TXNRD1_uc010swq.2_Silent_p.T18T|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc001tkv.2_5'Flank	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	118	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						CCGCGGAAACCGATCTGCCCG	0.552000														134			61		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196461411	196461411	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:196461411G>A	uc001gtd.1	-	1	216	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KCNT2_uc001gte.1_Silent_p.F52F|KCNT2_uc001gtf.1_Silent_p.F52F|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.F52F|KCNT2_uc009wyv.1_Silent_p.F52F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	52						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGTTTTTTATGAAAAATAATT	0.264000														4			7		0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24145601	24145601	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:24145601A>G	uc002zyd.3	+	4	854	c.647A>G	c.(646-648)aAc>aGc	p.N216S	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Missense_Mutation_p.N207S|SMARCB1_uc002zyc.3_Missense_Mutation_p.N198S	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	207	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(6)|p.E216*(4)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTCACCTGGAACATGAATGGT	0.612000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid								54			19		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142030475	142030475	+	Nonsense_Mutation	SNP	G	A	A	rs78926178		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:142030475G>A	uc003eus.3	-	41	5066	c.4999C>T	c.(4999-5001)Caa>Taa	p.Q1667*	XRN1_uc010huu.3_Nonsense_Mutation_p.Q1121*|XRN1_uc003eut.3_Nonsense_Mutation_p.Q1654*|XRN1_uc003euu.3_Nonsense_Mutation_p.Q1655*	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1667					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GTTTCAACTTGAAAAGAAGAT	0.418000														25			49		0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38524763	38524763	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38524763C>T	uc003cif.3	+	10	1503	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	ACVR2B_uc003cig.3_Silent_p.L284L	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	493					BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CGGACTGTCTCGTTTCCCTGG	0.587000														81			77		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915871	72915871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:72915871C>T	uc002jme.1	-	1	1243	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	USH1G_uc010wro.1_Missense_Mutation_p.D251N	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	354					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGCTGTCATCGTCCAGGCTG	0.677000														114			90		0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166626759	166626759	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:166626759T>A	uc010fph.1	-	1	839	c.452A>T	c.(451-453)aAt>aTt	p.N151I	GALNT3_uc010fpi.1_Missense_Mutation_p.N151I|GALNT3_uc002udi.2_Missense_Mutation_p.N151I	NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	151					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TGCGAAAGCATTAAAGCAGTG	0.403000														60			41		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709278	176709278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:176709278C>T	uc001gkz.3	+	13	5261	c.4097C>T	c.(4096-4098)tCg>tTg	p.S1366L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1366					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S1366S(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATTGGTCTTTCGGCTCCCAGT	0.512000														54			21		0	0	1	0	0
CMPK2	129607	broad.mit.edu	37	2	6991588	6991588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:6991588G>A	uc002qyo.3	-	3	1328	c.1219C>T	c.(1219-1221)Cgt>Tgt	p.R407C	CMPK2_uc002qyn.1_Non-coding_Transcript|CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.3_Missense_Mutation_p.R407C	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA.	407					dTDP biosynthetic process	mitochondrion	ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACTTTTGACGAAACACACTG	0.542000														51			31		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3240668	3240668	+	Silent	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:3240668T>C	uc002wii.2	-	31	2931	c.2880A>G	c.(2878-2880)gaA>gaG	p.E960E	C20orf194_uc002wij.3_Silent_p.E699E|C20orf194_uc002wik.2_Silent_p.E634E	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	960										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCAATTTACCTTCATACCTTA	0.498000														61			21		0	0	1	0	0
PSMC3	5702	broad.mit.edu	37	11	47444150	47444150	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:47444150C>G	uc001nfh.2	-	7	1053	c.859G>C	c.(859-861)Gag>Cag	p.E287Q		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	287					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCATCCAACTCATCAATGAAG	0.567000														189			51		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254603	3254603	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:3254603C>T	uc010uwu.2	+	0	357	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTGTGATGGCCTATGACCACT	0.502000														31			171		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55780074	55780074	+	Silent	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:55780074A>G	uc010qhy.1	-	20	3039	c.2644T>C	c.(2644-2646)Tta>Cta	p.L882L	PCDH15_uc010qhq.2_Silent_p.L882L|PCDH15_uc010qhr.2_Silent_p.L877L|PCDH15_uc021pqv.1_Silent_p.L877L|PCDH15_uc021pqw.1_Silent_p.L889L|PCDH15_uc010qht.2_Silent_p.L884L|PCDH15_uc021pqx.1_Silent_p.L877L|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.L877L|PCDH15_uc021pqz.1_Silent_p.L855L|PCDH15_uc010qhv.1_Silent_p.L877L|PCDH15_uc010qhw.1_Silent_p.L840L|PCDH15_uc010qhx.1_Silent_p.L806L|PCDH15_uc010qhz.1_Silent_p.L877L|PCDH15_uc010qia.1_Silent_p.L855L|PCDH15_uc001jju.1_Silent_p.L877L|PCDH15_uc010qib.1_Silent_p.L855L|PCDH15_uc001jjw.3_Silent_p.L877L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	877	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAACTCCTTAAAAGCGATAGT	0.413000										HNSCC(58;0.16)				67			29		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62567416	62567416	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:62567416G>A	uc001xfu.1	+	5	2126	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L	SYT16_uc010tse.1_Silent_p.L201L	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	643										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACACTTTGCTGGAATCCTAGG	0.517000														24			12		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031453	109031453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:109031453C>T	uc003dxo.3	-	2	367	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	40						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCTTGGTTCCATTTGTTCCA	0.413000														74			59		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949681	118949681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:118949681G>A	uc004bjn.3	+	1	1045	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	PAPPA_uc011lxp.1_Missense_Mutation_p.E15K|PAPPA_uc011lxq.2_Missense_Mutation_p.E15K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	222					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACCTCTGGGGAACAAGTGGG	0.567000														50			24		0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338182	122338182	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:122338182T>G	uc003vkj.1	-	0	1027	c.791A>C	c.(790-792)aAg>aCg	p.K264T	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	264						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTCATTAGGCTTATAGCGTTC	0.403000														98			8		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38155261	38155261	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:38155261A>G	uc003atr.3	+	16	6585	c.6314A>G	c.(6313-6315)tAc>tGc	p.Y2105C	TRIOBP_uc003atu.3_Missense_Mutation_p.Y1933C|TRIOBP_uc003atv.3_Missense_Mutation_p.Y392C|TRIOBP_uc003atw.3_Missense_Mutation_p.Y392C|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.3_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	2105					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCCCGGGCTACATCTCACAG	0.612000														81			5		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392772	124392772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:124392772G>A	uc001lgk.1	+	48	6182	c.6076G>A	c.(6076-6078)Ggg>Agg	p.G2026R	DMBT1_uc001lgl.1_Missense_Mutation_p.G2016R|DMBT1_uc001lgm.1_Missense_Mutation_p.G1398R|DMBT1_uc021qaf.1_Missense_Mutation_p.G2026R|DMBT1_uc021qag.1_Missense_Mutation_p.G2016R|DMBT1_uc021qah.1_Missense_Mutation_p.G1398R|DMBT1_uc009xzz.1_Missense_Mutation_p.G2025R|DMBT1_uc010qtx.1_Missense_Mutation_p.G746R|DMBT1_uc009yab.1_Missense_Mutation_p.G729R|DMBT1_uc009yac.1_Missense_Mutation_p.G320R	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2026	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTCTATCCCGGGAACTATCC	0.507000														101			33		0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124335307	124335307	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:124335307C>T	uc003yqh.4	-	27	4111	c.4003_splice	c.e27-1	p.N1335_splice	ATAD2_uc011lii.2_Splice_Site_p.N1126_splice|ATAD2_uc003yqi.4_Splice_Site	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	1335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCAAAAGATTCTAAAAGAAAA	0.333000														12			5		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21842282	21842282	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:21842282G>A	uc010iuc.2	-	4	1260	c.802C>T	c.(802-804)Cga>Tga	p.R268*	CDH12_uc011cno.1_Nonsense_Mutation_p.R228*|CDH12_uc003jgk.2_Nonsense_Mutation_p.R268*	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	268	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGGGGAATCGAGGTGGATTG	0.403000										HNSCC(59;0.17)				91			78		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20616169	20616169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:20616169G>A	uc002wrz.3	-	8	1041	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	300					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAAACAACACGAGCTGCCATA	0.358000														110			64		0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784896	130784896	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:130784896G>A	uc001qgk.4	-	0	1487	c.939C>T	c.(937-939)ttC>ttT	p.F313F	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Silent_p.F313F|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	313					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGTAACTTAGGAATACTGGGG	0.557000														96			60		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146613	154146613	+	Silent	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:154146613A>G	uc003faa.3	-	0	892	c.792T>C	c.(790-792)tcT>tcC	p.S264S		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	264						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCATCCCCCAGAGCGCCGCA	0.657000														31			47		0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153791335	153791335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:153791335C>T	uc001fdb.4	-	3	773	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	177	CR1.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTCGGGCTTCTTCCAATCGT	0.483000														91			37		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321135	79321135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:79321135G>A	uc010mpk.3	-	7	6179	c.6055C>T	c.(6055-6057)Cct>Tct	p.P2019S	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.P1841S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2019					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGACAGCAGGAAAATTTTCT	0.433000														15			7		0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110148980	110148980	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:110148980T>A	uc001dya.3	-	4	753	c.540A>T	c.(538-540)aaA>aaT	p.K180N		NM_005272	NP_005263	P19087	GNAT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.	180					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGCCCGTGGTTTTGACTCTGG	0.458000														66			116		0	0	1	0	0
ARMS2	387715	broad.mit.edu	37	10	124214457	124214457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:124214457C>T	uc001lgi.3	+	0	279	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_001099667	NP_001093137	P0C7Q2	ARMS2_HUMAN	Homo sapiens age-related maculopathy susceptibility 2 (ARMS2), nuclear gene encoding mitochondrial protein, mRNA.	72					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCTAAAATCCACACTGAGCT	0.527000														29			12		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101742024	101742024	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:101742024T>A	uc001vox.1	-	29	3668	c.3479A>T	c.(3478-3480)aAt>aTt	p.N1160I		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1160						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGTTTTCATTGAAATTAGC	0.388000														33			12		0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187942	62187942	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:62187942T>C	uc002yfj.3	+	1	1018	c.926T>C	c.(925-927)cTg>cCg	p.L309P	C20orf195_uc021wgc.1_Missense_Mutation_p.L309P	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	309										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCGGAGCCCCTGGAGGGGCCC	0.512000														163			132		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113841986	113841986	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:113841986C>T	uc003ynu.3	-	11	1947	c.1788G>A	c.(1786-1788)ctG>ctA	p.L596L	CSMD3_uc003ynt.3_Silent_p.L556L|CSMD3_uc011lhx.2_Silent_p.L492L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	596	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCCAATCTCCAGATCAAATT	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				33			12		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135743399	135743399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:135743399C>T	uc002tue.1	-	6	3074	c.3043G>A	c.(3043-3045)Ggc>Agc	p.G1015S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.G902S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.G743S|YSK4_uc002tui.4_Missense_Mutation_p.G1032S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1015							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTCTCTCTGCCCATTTCTTTT	0.403000														74			37		0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71165992	71165992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:71165992G>A	uc002jje.3	+	1	894	c.534G>A	c.(532-534)atG>atA	p.M178I	SSTR2_uc021ucm.1_Missense_Mutation_p.M178I	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	178					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TGCCCATCATGATATATGCTG	0.572000														54			48		0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98257818	98257818	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:98257818C>T	uc003upl.2	+	4	1350	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	391	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTCAACATCGCCAACTGCT	0.577000														18			14		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25919417	25919417	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:25919417A>C	uc010crg.3	+	7	1192	c.747A>C	c.(745-747)gaA>gaC	p.E249D	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Missense_Mutation_p.E51D	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	385				FSEGLSDTCIPLHASGRLTPRAL -> EFRHTSALTQHTAH TQHTSAHTQ (in Ref. 3).	Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GTACCAAAGAAGCCCCTGCCT	0.522000														101			149		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35456311	35456311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:35456311C>T	uc001mwf.3	-	10	1469	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	PAMR1_uc001mwg.3_Missense_Mutation_p.G459R|PAMR1_uc010rew.2_Missense_Mutation_p.G348R|PAMR1_uc010rex.2_Missense_Mutation_p.G419R	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	459	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGCGCAACCCTTGGGTCTTT	0.542000														118			94		0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13338045	13338045	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:13338045G>A	uc010ned.3	-	0	474	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	3	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CATGAAAGATGAAATCCATGT	0.433000														2			6		0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688735	65688735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:65688735G>A	uc002jgc.3	+	8	1077	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	PITPNC1_uc002jgb.3_3'UTR	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.	244					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CACTCAGGAAGCCACCAACAA	0.468000														110			73		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401192	89401192	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:89401192C>T	uc010upo.1	+	11	5750	c.5376C>T	c.(5374-5376)gtC>gtT	p.V1792V	ACAN_uc010upp.1_Silent_p.V1792V|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1792					cell adhesion		hyaluronic acid binding|sugar binding	p.G1792E(1)		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)			CATCTGGGGTCCCTGATCTCA	0.527000														30			23		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117027810	117027810	+	Silent	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:117027810T>C	uc001lcg.3	+	12	2375	c.1989T>C	c.(1987-1989)tcT>tcC	p.S663S		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	663						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TAGCTGCTTCTGATGACAGAT	0.358000														70			20		0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82891739	82891739	+	Silent	SNP	A	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:82891739A>T	uc003pjl.1	-	25	4109	c.3582T>A	c.(3580-3582)tcT>tcA	p.S1194S	IBTK_uc011dyu.1_Silent_p.S145S|IBTK_uc011dyv.1_Silent_p.S1179S|IBTK_uc011dyw.1_Silent_p.S993S|IBTK_uc010kbi.1_Silent_p.S888S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1194					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AATGCAGAGAAGATGCCCTGC	0.353000														20			25		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119065134	119065134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:119065134G>A	uc004bjn.3	+	9	3433	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	PAPPA_uc011lxp.1_Missense_Mutation_p.G713R|PAPPA_uc011lxq.2_Missense_Mutation_p.G393R	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1018					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACGCCCCAGGGATTCCTGGA	0.517000														14			53		0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86564656	86564657	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:86564656_86564657CC>TT	uc003kiw.3	+	0	587_588	c.388_389CC>TT	c.(388-390)cca>TTa	p.P130L	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_5'Flank|RASA1_uc011ctv.2_5'Flank|RASA1_uc011ctw.2_5'Flank|RASA1_uc010jaw.3_5'Flank	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	130					cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GACTCTCGGGCCAGGCGGCGGT	0.644000														72			40		0	0	1	0	0
LOC286238	286238	broad.mit.edu	37	9	91262385	91262385	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:91262385C>T	uc010mql.1	-	1	391	c.258G>A	c.(256-258)cgG>cgA	p.R86R		NM_001100111	NP_001093581			Homo sapiens uncharacterized LOC286238 (LOC286238), mRNA.																		GAAGCATGTCCCGTGTCTGCC	0.433000														4			54		0	0	1	0	0
ANKRD39	51239	broad.mit.edu	37	2	97519293	97519293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:97519293C>T	uc002sxd.4	-	2	285	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_016466	NP_057550	Q53RE8	ANR39_HUMAN	Homo sapiens ankyrin repeat domain 39 (ANKRD39), mRNA.	85										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						GCTCCGCTTTCCAGCAGGAAC	0.617000														62			49		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7773063	7773063	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:7773063A>G	uc003jdz.1	+	17	2300	c.2233A>G	c.(2233-2235)Att>Gtt	p.I745V	ADCY2_uc011cmo.1_Missense_Mutation_p.I565V	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	745					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTACAGCTGCATTCTGGGACT	0.468000														270			44		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103467999	103467999	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:103467999C>T	uc001dum.3	-	22	2436	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Silent_p.G694G|COL11A1_uc001dun.3_Silent_p.G655G|COL11A1_uc009weh.3_Silent_p.G578G	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	694	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCTGGATTCCCTTGTTGAC	0.423000														11			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569693	179569693	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179569693C>T	uc021vsy.1	-	101	26098	c.25873_splice	c.e101-1	p.E8625_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.E5286_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9552	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCAATTTCCTGAGAAGAA	0.373000														58			47		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148964213	148964213	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:148964213C>T	uc011kuo.2	+	3	736	c.573C>T	c.(571-573)atC>atT	p.I191I	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	191					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AACCAGACATCCTCACCCGGA	0.542000														49			28		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32014231	32014232	+	Splice_Site	DNP	GA	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:32014231_32014232GA>TT	uc003nzl.2	-	31	10521	c.10319_splice	c.e31-1	p.A3440_splice	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3487	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTCTCCAGGGGAGCTGTGCAGA	0.634000														22			21		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148891612	148891612	+	RNA	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:148891612C>T	uc009wkv.1	+	8		c.914C>T								Homo sapiens cDNA, FLJ17483.																		AGTTACAGTTCCAAGAAGAAA	0.413000														154			4		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029589	71029589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:71029589C>T	uc001swc.4	-	1	358	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PTPRB_uc001swa.4_Missense_Mutation_p.E105K|PTPRB_uc001swd.4_Missense_Mutation_p.E104K|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.E105K	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGGCATTTTCCACCTCAAGG	0.537000														106			6		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845761	176845761	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:176845761C>T	uc001glc.3	-	20	3587	c.3375G>A	c.(3373-3375)tgG>tgA	p.W1125*	ASTN1_uc001glb.1_Nonsense_Mutation_p.W1125*|ASTN1_uc001gld.1_Nonsense_Mutation_p.W1125*	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1133	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTCCACTCCCCACAGCGTGA	0.602000														25			20		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20568666	20568666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:20568666G>A	uc001iqg.1	+	13	2145	c.1508G>A	c.(1507-1509)aGa>aAa	p.R503K	PLXDC2_uc001iqh.1_Missense_Mutation_p.R454K|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	503						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATGAAGTTTAGAAGAGGCTCT	0.418000														21			23		0	0	1	0	0
SP5	389058	broad.mit.edu	37	2	171572829	171572829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:171572829G>A	uc002uge.3	+	1	278	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Homo sapiens Sp5 transcription factor (SP5), mRNA.	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						ATTGCTGGCCGCCACCTGTAG	0.726000														111			4		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927366	43927367	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:43927366_43927367CT>TA	uc010yny.2	+	7	1352_1353	c.1269_1270CT>TA	c.(1267-1272)ctctct>ctTAct	p.S424T	PLEKHH2_uc002rte.3_Missense_Mutation_p.S424T|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S423T	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	424						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTAACTCACTCTCTGGAAAAGG	0.441000														123			65		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010230	35010230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:35010230C>T	uc003jjf.3	-	11	1456	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	AGXT2_uc003jje.1_Missense_Mutation_p.E58K|AGXT2_uc011com.2_Missense_Mutation_p.E330K	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	405					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGACTGTTTTCCTGTAGATTT	0.398000														63			67		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176008476	176008476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:176008476G>A	uc021yie.1	+	16	2225	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	CDHR2_uc003mem.2_Missense_Mutation_p.E651K|CDHR2_uc003men.1_Missense_Mutation_p.E651K	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	651	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTGGACAGAGAGGCCATCGA	0.622000														36			43		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76803431	76803431	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:76803431C>T	uc002jvz.1	-	13	2020	c.1695G>A	c.(1693-1695)ggG>ggA	p.G565G	USP36_uc002jwa.1_Silent_p.G565G|USP36_uc002jwb.1_Silent_p.G202G|USP36_uc002jwc.1_Silent_p.G265G	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	565					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCCTTTGGCTCCCAGATCTGC	0.592000														41			42		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928671	49928671	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49928671C>T	uc003cxy.4	-	16	3867	c.3603G>A	c.(3601-3603)gaG>gaA	p.E1201E	MST1R_uc011bdc.2_Silent_p.E1152E	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1201	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAACTTCTGCTCTGCCAGGT	0.617000														81			67		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635227	33635227	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:33635227C>T	uc001uus.3	+	3	2019	c.2011C>T	c.(2011-2013)Cga>Tga	p.R671*	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	671	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.R671*(2)|p.A670V(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGAGTATGCCCGACTGTGCTT	0.577000														71			51		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395279	94395279	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:94395279C>T	uc001ybz.2	+	2	1159	c.834C>T	c.(832-834)ttC>ttT	p.F278F	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.F216F|FAM181A_uc021saz.1_Silent_p.F216F|FAM181A_uc010aus.2_Silent_p.F216F|FAM181A_uc001yca.2_Silent_p.F216F	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	278										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTGCCCCTTCCAGTACCATG	0.642000														4			30		0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725339	66725339	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:66725339G>T	uc001sti.2	+	11	3104	c.3076G>T	c.(3076-3078)Gat>Tat	p.D1026Y	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	1026					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.V1025V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGATGGAGTAGATACAGATGA	0.438000														64			68		1.15062e-32	1.17508e-32	1	1	0
HTT	3064	broad.mit.edu	37	4	3241730	3241730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:3241730C>T	uc021xkv.1	+	66	9518	c.9373C>T	c.(9373-9375)Cca>Tca	p.P3125S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	3125					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCAGGAAGCCCATATCACCG	0.607000														18			8		0	0	1	0	0
NDUFS6	4726	broad.mit.edu	37	5	1816024	1816024	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:1816024C>G	uc003jcy.3	+	3	405	c.369C>G	c.(367-369)caC>caG	p.H123Q		NM_004553	NP_004544	O75380	NDUS6_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) (NDUFS6), nuclear gene encoding mitochondrial protein, mRNA.	123					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	GACAGCACCACCACTAGAGCG	0.522000														248			9		0	0	1	0	0
MANF	7873	broad.mit.edu	37	3	51426377	51426377	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:51426377C>T	uc003dbc.3	+	3	488	c.406C>T	c.(406-408)Cga>Tga	p.R136*	RBM15B_uc003dbd.3_5'Flank	NM_006010	NP_006001	P55145	MANF_HUMAN	Homo sapiens mesencephalic astrocyte-derived neurotrophic factor (MANF), mRNA.	136					response to unfolded protein	extracellular region	growth factor activity			lung(1)|ovary(1)	2						GAAGAAGCTCCGAGTTAAAGA	0.527000											OREG0015594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			5		0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101723	58101723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:58101723C>T	uc002qpg.3	+	3	641	c.544C>T	c.(544-546)Ctt>Ttt	p.L182F	ZIK1_uc002qph.3_Missense_Mutation_p.L127F|ZIK1_uc002qpi.3_Missense_Mutation_p.L169F|ZIK1_uc002qpj.3_Missense_Mutation_p.L79F	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R181Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CATGTTGCGGCTTCTGAGGTC	0.493000														65			49		0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293505	94293505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:94293505C>T	uc003uno.3	+	1	1116	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	PEG10_uc011kie.2_Missense_Mutation_p.H289Y|PEG10_uc022ahn.1_Missense_Mutation_p.H213Y	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	213	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCTCAGCGACCACATTCAGGA	0.577000														154			53		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22247572	22247572	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:22247572C>G	uc001mqi.2	+	5	654	c.337C>G	c.(337-339)Ctt>Gtt	p.L113V	ANO5_uc001mqj.2_Missense_Mutation_p.L112V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	113						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						AAAAACAGGTCTTGAGTTGGA	0.323000														22			9		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211459	45211459	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:45211459C>T	uc010xxd.2	+	6	1473	c.1267_splice	c.e6+1	p.P423_splice		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	423										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GCAGGTGGCCCGTGAGTGTGT	0.582000														12			5		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745679	33745679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:33745679C>T	uc002rox.3	+	6	923	c.296C>T	c.(295-297)aCt>aTt	p.T99I	RASGRP3_uc010ync.2_Missense_Mutation_p.T99I|RASGRP3_uc002roy.3_Missense_Mutation_p.T99I	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	99	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATTCGTATGACTGAGGAATTT	0.423000														141			117		0	0	1	0	0
FAM209B	388799	broad.mit.edu	37	20	55111278	55111278	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:55111278G>A	uc010zzh.2	+	1	380	c.300G>A	c.(298-300)aaG>aaA	p.K100K	FAM209B_uc002xxz.3_Silent_p.K100K	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA.	100						integral to membrane											CTCCACTAAAGAAAAATCAAA	0.393000														100			18		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13476136	13476136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:13476136C>T	uc002mwy.3	-	4	1015	c.779G>A	c.(778-780)gGg>gAg	p.G260E	CACNA1A_uc010xnd.2_Missense_Mutation_p.G260E|CACNA1A_uc021ups.1_Missense_Mutation_p.G260E|CACNA1A_uc010xne.2_Missense_Mutation_p.G260E|CACNA1A_uc010dze.2_Missense_Mutation_p.G260E|CACNA1A_uc021upt.1_Missense_Mutation_p.G260E	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	260					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTACCTGTCCCCTCTTCAAA	0.458000														138			36		0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140174065	140174065	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:140174065G>A	uc022bqh.1	+	0	924	c.924G>A	c.(922-924)acG>acA	p.T308T	TOR4A_uc004cmn.3_Silent_p.T308T	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	Homo sapiens chromosome 9 open reading frame 167 (C9orf167), mRNA.	308					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										CCGAGGTCACGCGCTTCGTGC	0.721000														11			6		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996144	19996144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:19996144C>T	uc002ktv.1	-	0	1735	c.1631G>A	c.(1630-1632)gGa>gAa	p.G544E		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	544						integral to membrane		p.G544V(3)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCTTGATTCTCCTCTTTCTTT	0.547000														55			42		0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47602408	47602408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:47602408G>A	uc001nga.2	+	3	335	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NDUFS3_uc001nft.3_Missense_Mutation_p.E64K|KBTBD4_uc001nfw.2_5'Flank|KBTBD4_uc001nfx.3_5'Flank|KBTBD4_uc001nfz.3_5'Flank|KBTBD4_uc001nfy.3_5'Flank|NDUFS3_uc010rhn.1_Missense_Mutation_p.E85K	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	85					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	CAATGAGTTAGAGGTCTGTAT	0.498000														206			122		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88705380	88705380	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:88705380G>A	uc001kea.3	-	1	358	c.231C>T	c.(229-231)ttC>ttT	p.F77F	MMRN2_uc010qmn.2_5'UTR|MMRN2_uc009xtb.2_Intron	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	77	EMI.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGTGGATGAGGAATTTCTCTG	0.552000														30			16		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87195442	87195442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:87195442G>A	uc003uiz.2	-	7	1139	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	ABCB1_uc011khc.2_Missense_Mutation_p.L152F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	216	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAAATCACAAGGGTTAGCTTC	0.433000														49			25		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18331234	18331234	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:18331234C>T	uc010xqc.2	-	5	1167	c.687G>A	c.(685-687)gtG>gtA	p.V229V	PDE4C_uc002nik.4_Silent_p.V229V|PDE4C_uc002nil.4_Silent_p.V229V|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Silent_p.V123V|PDE4C_uc002nii.4_Silent_p.V197V|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript|PDE4C_uc002nim.1_Missense_Mutation_p.G213R	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	229					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCATCTCCCCCACCGAGTGCC	0.647000														91			56		0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376715	52376715	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52376715A>C	uc010yde.2	-	6	919	c.528T>G	c.(526-528)caT>caG	p.H176Q	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Missense_Mutation_p.H117Q|ZNF577_uc002pxv.3_Missense_Mutation_p.H169Q|ZNF577_uc002pxw.3_Missense_Mutation_p.H110Q	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CAGTTCTCTGATGTTGAATAA	0.463000														139			4		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412487	19412487	+	RNA	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:19412487G>A	uc010tcj.1	-	0		c.33623C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTCTACTTCGGAAATATCAGA	0.343000														19			11		0	0	1	0	0
NDUFS4	4724	broad.mit.edu	37	5	52954388	52954388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:52954388C>T	uc003jpe.2	+	3	386	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S		NM_002495	NP_002486	O43181	NDUS4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) (NDUFS4), nuclear gene encoding mitochondrial protein, mRNA.	120					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	CAGGGCTGATCCCTTATCCAA	0.303000														37			40		0	0	1	0	0
CYB5R2	51700	broad.mit.edu	37	11	7688983	7688983	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:7688983C>T	uc001mfm.3	-	6	772	c.534G>A	c.(532-534)agG>agA	p.R178R	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Silent_p.R178R	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	178					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGGACATCCTGGTCCTGT	0.537000														210			165		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462575	66462576	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:66462575_66462576CC>TT	uc021xzk.1	+	28	7876_7877	c.7568_7569CC>TT	c.(7567-7569)tcc>tTT	p.S2523F	MAST4_uc003jut.2_Missense_Mutation_p.S2334F|MAST4_uc003juw.3_Missense_Mutation_p.S2262F|MAST4_uc003jux.3_Missense_Mutation_p.S87F	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2526						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCCTGCCCTCCTTCCGGGTCT	0.668000														12			10		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49688098	49688098	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49688098C>T	uc003cxe.4	+	3	1686	c.1572C>T	c.(1570-1572)agC>agT	p.S524S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	524					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)		TGGAGGGCAGCCTAGGAGAGC	0.587000														153			121		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61877874	61877874	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:61877874T>G	uc002jbu.3	+	6	775	c.518T>G	c.(517-519)gTt>gGt	p.V173G	DDX42_uc002jbv.3_Missense_Mutation_p.V173G|DDX42_uc002jbw.1_5'UTR	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	173					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCTGGTGTGGTTCAGGAGGAA	0.408000														75			55		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12691741	12691741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:12691741G>A	uc002mtz.2	-	4	1277	c.1148C>T	c.(1147-1149)aCt>aTt	p.T383I		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TCCAAAATGAGTTCTTTCGTG	0.413000														64			59		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49700100	49700100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:49700100C>T	uc002pmw.3	+	16	2722	c.2614C>T	c.(2614-2616)Ctc>Ttc	p.L872F	TRPM4_uc010emu.3_Intron|TRPM4_uc010yak.2_Missense_Mutation_p.L336F|TRPM4_uc002pmx.3_Missense_Mutation_p.L698F|TRPM4_uc010emv.3_Missense_Mutation_p.L757F|TRPM4_uc010yal.2_Missense_Mutation_p.L518F|TRPM4_uc002pmy.3_Missense_Mutation_p.L214F	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	872					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTAGTGGCTCTCACCTGCTT	0.716000														30			6		0	0	1	0	0
RAB21	23011	broad.mit.edu	37	12	72148967	72148967	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:72148967T>G	uc001swt.3	+	0	310	c.58T>G	c.(58-60)Ttc>Gtc	p.F20V		NM_014999	NP_055814	Q9UL25	RAB21_HUMAN	Homo sapiens RAB21, member RAS oncogene family (RAB21), mRNA.	20					protein transport|small GTPase mediated signal transduction	Golgi membrane|cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						AGCCTACTCGTTCAAGGTGGT	0.716000														152			4		0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69455944	69455944	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:69455944G>A	uc004dxy.3	+	2	251	c.210G>A	c.(208-210)agG>agA	p.R70R		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	70					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCTGGGTAAGGAACTGGTGTG	0.517000														5			38		0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4475575	4475576	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:4475575_4475576CC>TT	uc002mao.3	+	2	376_377	c.283_284CC>TT	c.(283-285)cct>TTt	p.P95F	HDGFRP2_uc002map.3_Missense_Mutation_p.P95F|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	95					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CTACAGCGCCCCTCCGGTGAGT	0.584000														51			15		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102157429	102157429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:102157429G>A	uc003dvt.1	+	1	246	c.146G>A	c.(145-147)aGa>aAa	p.R49K	ZPLD1_uc003dvs.1_Missense_Mutation_p.R33K|ZPLD1_uc011bhg.1_Missense_Mutation_p.R33K	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	33	ZP.					integral to membrane		p.R49I(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTCCACAGTAGATTTCCTGGT	0.418000														22			29		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7295772	7295773	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:7295772_7295773CC>TT	uc001qss.3	+	10	2286_2287	c.1748_1749CC>TT	c.(1747-1749)ccc>cTT	p.P583L	CLSTN3_uc001qsr.3_Missense_Mutation_p.P571L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	571					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.V583M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CACGTGAACCCCTCACAGTCCC	0.619000														146			102		0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90582746	90582746	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:90582746C>T	uc001kfj.4	-	5	896	c.528G>A	c.(526-528)cgG>cgA	p.R176R		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	176										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		ATTTTAATCTCCGTGCAATAT	0.403000														80			76		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43230705	43230705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:43230705G>A	uc003ouq.1	+	12	1882	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	TTBK1_uc011dvg.1_Missense_Mutation_p.E58K	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	535						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCTGGCTGAGGAGGAGGATTT	0.642000														36			20		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637284	60637284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:60637284C>T	uc001nqd.3	+	2	613	c.593C>T	c.(592-594)tCc>tTc	p.S198F	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	198					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTTTACCATCCCCTGGACCT	0.612000														69			49		0	0	1	0	0
GPHB5	122876	broad.mit.edu	37	14	63784528	63784528	+	Silent	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:63784528G>T	uc021rud.1	-	1	93	c.36C>A	c.(34-36)gcC>gcA	p.A12A		NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA.	12						extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GAAGGAGGAGGGCCATGGGGC	0.582000														17			39		1.23713e-20	1.25758e-20	1	1	0
IL31RA	133396	broad.mit.edu	37	5	55168105	55168105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:55168105G>A	uc003jql.3	+	3	472	c.280G>A	c.(280-282)Gga>Aga	p.G94R	IL31RA_uc003jqk.3_Missense_Mutation_p.G94R|IL31RA_uc011cqj.2_5'UTR|IL31RA_uc003jqm.3_Missense_Mutation_p.G75R|IL31RA_uc003jqn.3_Missense_Mutation_p.G94R|IL31RA_uc010iwa.1_Missense_Mutation_p.G62R|IL31RA_uc021xyq.1_Missense_Mutation_p.G75R|IL31RA_uc003jqo.3_5'UTR	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	62	Fibronectin type-III 1.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AAGCGCTTTTGGAGAAAAACA	0.308000														19			11		0	0	1	0	0
FECH	2235	broad.mit.edu	37	18	55240527	55240527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:55240527G>A	uc002lgq.4	-	2	382	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	FECH_uc002lgp.4_Missense_Mutation_p.L95F|FECH_uc002lgr.4_5'UTR	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	89					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				AGTCTCAGAAGGAAGTCGTGA	0.383000														45			28		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156883768	156883768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156883768G>A	uc001fqj.1	+	21	2954	c.2838G>A	c.(2836-2838)atG>atA	p.M946I	PEAR1_uc001fqk.1_Missense_Mutation_p.M571I	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	946	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACATGGAGATGAAAGGCCCTC	0.657000														26			23		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196397274	196397274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:196397274C>T	uc001gtd.1	-	9	1005	c.945G>A	c.(943-945)atG>atA	p.M315I	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.M315I|KCNT2_uc001gtf.1_Missense_Mutation_p.M315I|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.M315I|KCNT2_uc009wyv.1_Missense_Mutation_p.M290I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	315						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTAAAAAATCCATAAGTAAAT	0.378000														29			8		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755466	38755466	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38755466G>A	uc003ciq.3	-	20	3787	c.3787C>T	c.(3787-3789)Cga>Tga	p.R1263*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1263					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCTTCAAATCGAGAAAGAGCC	0.532000														71			59		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272830	28272830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:28272830G>A	uc009xky.3	-	5	859	c.761C>T	c.(760-762)cCt>cTt	p.P254L	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.P254L|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	254							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCATCGTGAGGTTTCACCAG	0.393000														22			23		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806954	33806954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:33806954C>T	uc002hjn.3	-	2	1076	c.362G>A	c.(361-363)gGa>gAa	p.G121E	SLFN12L_uc021tuy.1_Missense_Mutation_p.G92E	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	124						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TAGCCCTATTCCATCTTTTTT	0.383000														23			22		0	0	1	0	0
MYL6	4637	broad.mit.edu	37	12	56552403	56552403	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:56552403G>C	uc010sqd.2	+	0	258	c.218G>C	c.(217-219)gGg>gCg	p.G73A	MYL6_uc001sjw.2_Intron|MYL6_uc001sjx.2_Intron|MYL6_uc010sqe.2_Intron	NM_079423	NP_524147	P60660	MYL6_HUMAN	Homo sapiens myosin, light chain 6, alkali, smooth muscle and non-muscle (MYL6), transcript variant 2, mRNA.	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGAGTTTGTGGGGCTGGGATA	0.567000														40			137		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72030778	72030778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:72030778G>A	uc001swo.2	-	7	2146	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	596	Pro-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGGTAGAGGAGGTAGAGGTTC	0.438000														605			56		0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49573328	49573328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:49573328C>T	uc002pmg.3	-	1	1719	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	455						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCTCACACTTCGGTGACCAGG	0.652000														151			120		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20403926	20403926	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:20403926T>A	uc001vwj.2	+	0	160	c.101T>A	c.(100-102)gTc>gAc	p.V34D		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTCTCTATAGTCTATGTGACA	0.373000														59			78		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053059	11053059	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:11053059G>A	uc002rax.3	+	0	997	c.507G>A	c.(505-507)tgG>tgA	p.W169*		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	169						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGTGCGTCTGGAAGTTCCTGG	0.687000														28			33		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553770	140553770	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140553770A>G	uc003lit.3	+	0	1528	c.1354A>G	c.(1354-1356)Acc>Gcc	p.T452A		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	452					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCGCCTTCACCCAAACCTC	0.602000														117			80		0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113673157	113673157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:113673157G>A	uc003eau.3	+	2	1071	c.772G>A	c.(772-774)Gag>Aag	p.E258K	ZDHHC23_uc003eav.3_Missense_Mutation_p.E252K	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	258						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CAAAGCGAAGGAGGACTGGTG	0.582000														24			27		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271759	22271759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:22271759G>A	uc010ecx.3	+	3	1376	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	ZNF257_uc010ecy.3_Missense_Mutation_p.D371N	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTACAAATGTGATGAATATTG	0.388000														9			11		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124567266	124567266	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:124567266C>T	uc003eho.3	-	3	798	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	167	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GCTTCCTCATCTCCTCCGCGA	0.527000														142			44		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9043098	9043099	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:9043098_9043099CC>TT	uc003jek.2	-	22	3847_3848	c.3135_3136GG>AA	c.(3133-3138)gaggaa>gaAAaa	p.E1046K		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	1046					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTGTTTCTTTCCTCTAGGATCA	0.317000														16			20		0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104414852	104414852	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:104414852C>T	uc001kvz.2	+	2	805	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	228						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGTGAACCAACTGAAGGAGGA	0.572000														39			28		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359126	145359126	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:145359126C>T	uc021oul.1	+	71	9101	c.9066C>T	c.(9064-9066)ccC>ccT	p.P3022P	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3022										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CATGCCAGCCCTACAGAAGTG	0.468000														437			6		0	0	1	0	0
TBCB	1155	broad.mit.edu	37	19	36616592	36616592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:36616592G>A	uc002odg.1	+	5	1218	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K		NM_001281	NP_001272	Q99426	TBCB_HUMAN	Homo sapiens tubulin folding cofactor B (TBCB), mRNA.	215	CAP-Gly.				'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)			ACGCTACTTCGAATGCCAGGC	0.572000														413			328		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122439497	122439497	+	Silent	SNP	C	T	T	rs138943666	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:122439497C>T	uc009zxk.3	+	20	3489	c.3330C>T	c.(3328-3330)tcC>tcT	p.S1110S		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1110							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAACCTGCTCCGTCAAAGGTA	0.507000														64			82		0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978181	247978181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247978181G>A	uc001idm.1	-	0	851	c.851C>T	c.(850-852)cCc>cTc	p.P284L		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284P(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GTATATAATGGGATTAAAGGT	0.403000														24			20		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697010	48697010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:48697010G>A	uc003cuf.1	-	2	3268	c.3268C>T	c.(3268-3270)Cgt>Tgt	p.R1090C	CELSR3_uc003cul.3_Missense_Mutation_p.R1020C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1020	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTACTGTACGGACAATTCCA	0.547000														113			79		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7678084	7678084	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:7678084G>A	uc002giu.1	+	27	4523	c.4509G>A	c.(4507-4509)ctG>ctA	p.L1503L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1503	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGGCCTCCTGGACACATTGA	0.448000														23			34		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996503	19996503	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:19996503G>A	uc002ktv.1	-	0	1376	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	424						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTTTCTCATGGAGAATAATCT	0.368000														31			36		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135282769	135282769	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:135282769C>T	uc003vsw.3	+	14	2119	c.2088C>T	c.(2086-2088)tcC>tcT	p.S696S		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	696					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAATAGAATCCCGGTGTGAAG	0.403000														77			123		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43126660	43126660	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:43126660C>T	uc011dve.1	+	17	2893	c.2851C>T	c.(2851-2853)Caa>Taa	p.Q951*	PTK7_uc003oub.1_Nonsense_Mutation_p.Q943*|PTK7_uc003ouc.1_Nonsense_Mutation_p.Q887*|PTK7_uc003oud.1_Nonsense_Mutation_p.Q903*|PTK7_uc003oue.1_Nonsense_Mutation_p.Q813*|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Nonsense_Mutation_p.Q269*|PTK7_uc003ouh.1_5'Flank	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	943	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGCCCAGAGACAAGTGAAGGT	0.592000														57			51		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081518	1081518	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:1081518C>T	uc001lsx.1	+	11	1563	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	512	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCATGCAACTCTTTGTGACAC	0.647000														45			42		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72308161	72308161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:72308161G>A	uc002jkf.3	+	11	1624	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	DNAI2_uc002jkg.3_Missense_Mutation_p.R493Q|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	505					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						CGTGAGACCCGGCGAGAGAAG	0.662000									Kartagener syndrome					61			34		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522870	57522870	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:57522870C>T	uc011kdi.1	+	2	370	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TAGCCAAACACCCAGGTAGGT	0.443000														33			37		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900458	123900458	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:123900458C>G	uc001pzp.1	+	0	129	c.129C>G	c.(127-129)atC>atG	p.I43M		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACCTCCTCATCCTGCTGGTGA	0.572000														204			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308740	140308740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140308740C>T	uc003lih.2	+	0	2439	c.2263C>T	c.(2263-2265)Ctc>Ttc	p.L755F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.L755F	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	792					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGACTTATCTCTATCGGGC	0.473000														13			74		0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501805	136501805	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:136501805G>A	uc004cel.3	+	0	321	c.312G>A	c.(310-312)tgG>tgA	p.W104*		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	104	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGGTGCTCTGGACCGATGGGG	0.607000														11			42		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218807	49218807	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:49218807G>A	uc010zyt.2	-	12	1712	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.S483S|FAM65C_uc002xvn.1_Silent_p.S483S	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	483										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTGGAACAGGGAGCCCTGTG	0.682000														42			27		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435663	145435663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:145435663C>T	uc003lnt.3	+	7	1680	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	SH3RF2_uc011dbl.1_Missense_Mutation_p.P481L|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	481							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAAGCCGTCCCTTCAAATCC	0.582000														15			113		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492517	74492517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:74492517G>A	uc001dfy.4	-	7	2047	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	619								p.P619H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTCCATTGGGAACTTTAAAG	0.289000														8			16		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35857148	35857148	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:35857148C>T	uc003jjs.3	+	0	158	c.69C>T	c.(67-69)ggC>ggT	p.G23G	IL7R_uc011coo.2_Silent_p.G23G|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	23					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAGAAAGTGGCTATGCTCAAA	0.383000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							81			44		0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86659237	86659237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:86659237G>A	uc003kiw.3	+	10	1725	c.1526G>A	c.(1525-1527)aGc>aAc	p.S509N	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.S332N|RASA1_uc011ctv.2_Missense_Mutation_p.S342N|RASA1_uc011ctw.2_Missense_Mutation_p.S343N|RASA1_uc010jaw.3_Missense_Mutation_p.S331N	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	509	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TATTTTGAAAGCGAAAAACGA	0.333000														31			25		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512186	104512186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:104512186G>A	uc004elz.1	+	4	1415	c.659G>A	c.(658-660)gGa>gAa	p.G220E		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	220	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATATGAAGGAAAACTTGTA	0.333000														2			34		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982294	7982294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:7982294G>A	uc001mfv.1	-	1	882	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	289	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGGTGATGAGAAGGGAGCAC	0.542000														110			85		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329301	56329301	+	Silent	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:56329301A>G	uc010ygf.2	-	3	951	c.240T>C	c.(238-240)gaT>gaC	p.D80D	NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	80	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCCTACAAAGATCTTCCTTAC	0.458000														80			60		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998223	10998223	+	RNA	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:10998223C>T	uc002yis.1	-	10		c.2030G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTATGGTTTCCTTTTTCTCT	0.368000														102			25		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777825	110777825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:110777825C>T	uc003puf.3	-	1	516	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SLC22A16_uc003pue.3_Missense_Mutation_p.R131Q|SLC22A16_uc003pug.3_Missense_Mutation_p.R150Q	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	150					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AAGCCATTTTCGGTCACAGAC	0.448000														32			20		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808333	8808333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:8808333C>T	uc002mkl.2	-	0	840	c.719G>A	c.(718-720)gGc>gAc	p.G240D		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	240						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGGGGCAGGCCGGCCTGGAG	0.657000														73			62		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90170219	90170219	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:90170219G>T	uc002boe.3	+	21	5635	c.5635G>T	c.(5635-5637)Gaa>Taa	p.E1879*	C15orf42_uc021sug.1_Nonsense_Mutation_p.E1878*	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1879					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCCACTGTAGAAGACTCTCC	0.493000														256			227		1.01307e-103	1.04643e-103	1	1	0
ARMC3	219681	broad.mit.edu	37	10	23270363	23270363	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:23270363C>T	uc001irm.4	+	8	1094	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	ARMC3_uc010qcv.2_Silent_p.S337S|ARMC3_uc010qcw.2_Silent_p.S74S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	337							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGCTGCTTCCCAAGCTATTT	0.353000														12			24		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40844654	40844654	+	Nonsense_Mutation	SNP	C	T	T	rs144659252		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:40844654C>T	uc002iay.3	+	16	2884	c.2668C>T	c.(2668-2670)Cga>Tga	p.R890*	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	890	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGCCCGGCTCCGAGTGGATCA	0.572000														128			110		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19373209	19373209	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:19373209C>T	uc002zpf.1	-	11	1384	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E	HIRA_uc011agx.1_Silent_p.E254E|HIRA_uc010grn.1_Silent_p.E388E|HIRA_uc010gro.2_Silent_p.E344E|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	388					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGAGCTGGGCCTCGGTCATGA	0.597000														22			21		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160086657	160086658	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:160086657_160086658CC>TT	uc002uag.3	+	26	4994_4995	c.4720_4721CC>TT	c.(4720-4722)cct>TTt	p.P1574F	TANC1_uc010zcm.2_3'UTR|TANC1_uc010fon.3_Missense_Mutation_p.P418F	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1574						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CGCTGCCACTCCTGCTGGGAGC	0.559000														50			75		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031129	33031129	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:33031129T>A	uc001rlj.4	-	2	800	c.685A>T	c.(685-687)Acc>Tcc	p.T229S	PKP2_uc001rlk.4_Missense_Mutation_p.T229S|PKP2_uc010skj.2_Missense_Mutation_p.T229S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	229					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCAAAAACGGTGTCGCTAACA	0.602000														82			29		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17898033	17898033	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:17898033C>G	uc002rco.3	-	13	1617	c.1321G>C	c.(1321-1323)Gac>Cac	p.D441H	SMC6_uc010exo.3_Missense_Mutation_p.D441H|SMC6_uc002rcn.3_Missense_Mutation_p.D441H|SMC6_uc002rcp.1_Missense_Mutation_p.D467H|SMC6_uc002rcq.2_Missense_Mutation_p.D467H|SMC6_uc002rcr.1_Missense_Mutation_p.D441H	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	441					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTCTTTGTCCTTTTCTATG	0.299000														67			15		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43420636	43420636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43420636G>A	uc002ovj.1	-	1	167	c.68C>T	c.(67-69)tCa>tTa	p.S23L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.S23L	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	23					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTTTAAAAGTGATGCTAGGAG	0.468000														135			110		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12317381	12317381	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:12317381G>A	uc001rah.4	-	8	2020	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.T626T	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	626	EGF-like 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGACAATGCAGGTCTTCATGT	0.468000														78			68		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139313701	139313701	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:139313701G>A	uc003vvf.4	-	4	1703	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	HIPK2_uc003vvd.4_Nonsense_Mutation_p.Q478*	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	478	Interaction with DAXX.|Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AAGCTTACCTGGGCCATATCA	0.413000														4			10		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699045	49699045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:49699045C>T	uc003jom.3	-	5	1093	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	EMB_uc010ivq.3_Missense_Mutation_p.E76K|EMB_uc003jol.3_Missense_Mutation_p.E213K|EMB_uc011cpy.2_Missense_Mutation_p.E232K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	282						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTGTACTTTTCACAAAGCAGA	0.348000														18			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584535	179584535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179584535G>A	uc021vsy.1	-	78	20177	c.19952C>T	c.(19951-19953)cCc>cTc	p.P6651L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3312L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7578	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGGTTCGGGCTTCTCTAT	0.398000														24			14		0	0	1	0	0
GTF2B	2959	broad.mit.edu	37	1	89329731	89329732	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:89329731_89329732GG>AA	uc001dmo.4	-	2	309_310	c.190_191CC>TT	c.(190-192)cca>TTa	p.P64L	GTF2B_uc009wcw.1_Intron	NM_001514	NP_001505	Q00403	TF2B_HUMAN	Homo sapiens general transcription factor IIB (GTF2B), mRNA.	64					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		AACTCGAGATGGATCTTTTGTT	0.401000														92			28		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84562262	84562262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:84562262C>T	uc004eer.2	-	10	1217	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	POF1B_uc004ees.3_Missense_Mutation_p.M357I	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	357							actin binding	p.K356*(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCTCAAGTCTCATCTTGTCAT	0.338000														0			9		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53736791	53736791	+	Silent	SNP	C	T	T	rs145203578		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:53736791C>T	uc003dgv.4	+	8	1507	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	CACNA1D_uc003dgu.4_Silent_p.I448I|CACNA1D_uc003dgy.4_Silent_p.I448I|CACNA1D_uc003dgw.4_Silent_p.I95I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	448					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGAGGACATCGATCCGGAGA	0.542000														53			48		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612277	189612277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:189612277G>A	uc003fry.2	+	13	2118	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.E583K|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.E498K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	677	Transactivation inhibition.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCGCATCAAAGAGGAGGGGGA	0.527000										HNSCC(45;0.13)				31			36		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139611102	139611102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:139611102C>T	uc003yvd.3	-	60	4672	c.4225G>A	c.(4225-4227)Gga>Aga	p.G1409R	COL22A1_uc011ljo.2_Missense_Mutation_p.G689R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1409	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGCCTTTTCCACCAGGAGGT	0.577000										HNSCC(7;0.00092)				44			8		0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104461797	104461797	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:104461797G>T	uc001tkj.4	+	2	488	c.385G>T	c.(385-387)Gga>Tga	p.G129*	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	129					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTCGGCTTGGACATAGCTT	0.423000														125			39		7.40236e-40	7.59001e-40	1	1	0
BRCA2	675	broad.mit.edu	37	13	32913867	32913867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:32913867C>T	uc001uub.1	+	10	5602	c.5375C>T	c.(5374-5376)tCc>tTc	p.S1792F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1792					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGTAATATCCAATGTAAAA	0.328000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				39			29		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74283914	74283914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:74283914C>T	uc003hgs.4	+	11	1611	c.1538C>T	c.(1537-1539)tCa>tTa	p.S513L	ALB_uc011cbe.2_Missense_Mutation_p.S192L|ALB_uc003hgw.4_Missense_Mutation_p.S321L|ALB_uc011cbf.2_Missense_Mutation_p.S403L	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	513	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCATGCTTTTCAGCTCTGGAA	0.443000														33			43		0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58018666	58018666	+	Silent	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:58018666G>C	uc001spe.3	+	9	1556	c.1245G>C	c.(1243-1245)ggG>ggC	p.G415G	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	415	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AGGTCCCGGGGCTCTGCATCC	0.582000														18			96		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1828258	1828258	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:1828258G>C	uc003wpr.3	+	8	1066	c.888G>C	c.(886-888)aaG>aaC	p.K296N	ARHGEF10_uc003wpq.1_Missense_Mutation_p.K321N|ARHGEF10_uc003wps.3_Intron|ARHGEF10_uc003wpt.3_Intron|ARHGEF10_uc003wpv.3_Intron|ARHGEF10_uc010lre.3_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	321					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGAGAAAAAGATGAGAGATT	0.493000														73			27		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130079376	130079376	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:130079376T>C	uc001qfw.3	+	17	2502	c.2309T>C	c.(2308-2310)gTc>gCc	p.V770A		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	770	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGATCCGCGTCATCAACCAG	0.662000														17			3		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47570941	47570941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:47570941G>A	uc003gxk.1	+	15	3105	c.2941G>A	c.(2941-2943)Gat>Aat	p.D981N	ATP10D_uc003gxl.1_Missense_Mutation_p.D229N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	981					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATTAAGTGAAGATTTACTTCA	0.478000														97			68		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115536999	115536999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:115536999C>T	uc001lat.2	+	10	1710	c.1148C>T	c.(1147-1149)aCc>aTc	p.T383I	C10orf81_uc009xyc.2_Missense_Mutation_p.T301I|C10orf81_uc001lar.2_Intron|C10orf81_uc001las.2_Missense_Mutation_p.T301I|C10orf81_uc001lau.2_Missense_Mutation_p.T217I	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	397										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		CTGTTTCTTACCCGGTCCATC	0.527000														21			20		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108868931	108868931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:108868931C>T	uc010ywo.2	+	1	283	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	95						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACTGAAATTTCCCCATAAAGA	0.398000														43			26		0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22509204	22509204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:22509204G>A	uc021rpo.1	+	1	208	c.142G>A	c.(142-144)Gtc>Atc	p.V48I	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc010tmm.2_Intron|TRAV20_uc021rpp.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136.																		CAGTTACACAGTCAGCGGTTT	0.522000														30			15		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113350325	113350325	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:113350325C>A	uc003ian.4	+	9	1043	c.816C>A	c.(814-816)gaC>gaA	p.D272E	ALPK1_uc003iap.4_Missense_Mutation_p.D272E|ALPK1_uc011cfx.2_Missense_Mutation_p.D194E|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.D100E	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	272							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGAGTTTGACCACCATTTGC	0.493000														191			84		3.86339e-31	3.94292e-31	1	1	0
IL28B	282617	broad.mit.edu	37	19	39734710	39734710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:39734710C>T	uc010xut.2	-	2	348	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	IL28B_uc010xuu.2_Missense_Mutation_p.G116R	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	116					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AAGACATCCCCCAGGGCTGGG	0.662000														111			115		0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235286	50235286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:50235286G>A	uc001vdg.3	-	3	502	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	147					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CACTCTGGGAGGAAGGTCATC	0.542000														81			50		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274538	238274538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:238274538G>A	uc002vwl.2	-	11	5926	c.5641C>T	c.(5641-5643)Cgc>Tgc	p.R1881C	COL6A3_uc002vwo.2_Missense_Mutation_p.R1675C|COL6A3_uc010znj.1_Missense_Mutation_p.R1274C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1881	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)		GTGGGCGAGCGGCCACCGCTG	0.597000														141			93		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86115857	86115857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:86115857C>T	uc003dql.3	+	9	1238	c.1238C>T	c.(1237-1239)cCa>cTa	p.P413L	CADM2_uc003dqj.3_Missense_Mutation_p.P411L|CADM2_uc003dqk.3_Missense_Mutation_p.P380L|CADM2_uc003dqm.2_Missense_Mutation_p.P303L|CADM2_uc021xay.1_Missense_Mutation_p.P263L|CADM2_uc021xaz.1_Missense_Mutation_p.P263L|CADM2_uc021xba.1_Missense_Mutation_p.P303L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	411					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAAGATGCACCAGATGCTGAT	0.383000														59			20		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345282	5345282	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:5345282G>A	uc001mao.1	-	0	301	c.246C>T	c.(244-246)atC>atT	p.I82I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCCATAGGATGCCCATTA	0.502000														43			39		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091429	9091430	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9091429_9091430GG>AA	uc002mkp.3	-	0	589_590	c.385_386CC>TT	c.(385-387)cca>TTa	p.P129L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	129	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S128S(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						CCTGGTCCTTGGGGAACTCAAT	0.500000														80			45		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14824048	14824048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:14824048G>A	uc003zlm.3	-	12	2960	c.2144C>T	c.(2143-2145)gCc>gTc	p.A715V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	715					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGCTCCAGGGCCGTAGGATT	0.428000														1			11		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598157	28598157	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:28598157C>T	uc002kwj.4	-	8	1298	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	DSC3_uc002kwi.4_Silent_p.K381K	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	381	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAATTAAATCCTTATCTTCTA	0.303000														38			12		0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4794871	4794871	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4794871C>A	uc010vsl.2	+	15	2105	c.1861C>A	c.(1861-1863)Cct>Act	p.P621T	MINK1_uc010vsk.2_Missense_Mutation_p.P621T|MINK1_uc010vsm.2_Missense_Mutation_p.P601T|MINK1_uc010vsn.2_Missense_Mutation_p.P621T|MINK1_uc010vso.2_Missense_Mutation_p.P566T|MINK1_uc010vsp.2_Missense_Mutation_p.P111T	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	621					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGACCCCGACCCTGCCATCCC	0.662000														26			9		2.17888e-05	2.19028e-05	1	1	0
DBC1	1620	broad.mit.edu	37	9	122075565	122075565	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:122075565G>A	uc004bkc.2	-	1	525	c.69C>T	c.(67-69)tcC>tcT	p.S23S	DBC1_uc004bkd.2_Silent_p.S23S	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	23					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTTCCTGGTGGGAGGGCTGCA	0.512000														14			41		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3225781	3225781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:3225781C>T	uc021xkv.1	+	55	7833	c.7688C>T	c.(7687-7689)tCa>tTa	p.S2563L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2563					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCAATGGTTTCAAAGAGAGAG	0.453000														136			140		0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42062260	42062260	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:42062260A>G	uc003gwl.3	+	9	1039	c.893A>G	c.(892-894)cAt>cGt	p.H298R	SLC30A9_uc011byx.2_Missense_Mutation_p.H58R	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	298					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GATCCTTCTCATCCGTAAGGA	0.353000														152			53		0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271591	17271591	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:17271591C>G	uc001iou.2	+	1	583	c.170C>G	c.(169-171)cCg>cGg	p.P57R	BC078172_uc001iot.1_Non-coding_Transcript	NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	57	Head.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTCGTCCCCGGGCGGCGTG	0.731000														10			2		0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196198710	196198710	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:196198710A>G	uc003fwq.3	-	5	2291	c.1696T>C	c.(1696-1698)Ttt>Ctt	p.F566L	RNF168_uc010iah.3_Missense_Mutation_p.F399L	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	566					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CATCTCTGAAACATCTGAAAA	0.403000														73			15		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120602263	120602263	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:120602263G>A	uc001txo.3	-	17	1738	c.1725C>T	c.(1723-1725)agC>agT	p.S575S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	575					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCAGGTGCGGCTCAGGAGCA	0.642000														57			93		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440590	40440590	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:40440590G>A	uc003gvc.2	-	3	1031	c.321C>T	c.(319-321)gaC>gaT	p.D107D	RBM47_uc003gvd.2_Silent_p.D107D|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.D69D|RBM47_uc003gvg.1_Silent_p.D107D	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	107	RRM 1.					nucleus	RNA binding|nucleotide binding	p.D107D(4)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGTTCTTGCCGTCAAAGTCCA	0.647000														113			125		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26912209	26912209	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:26912209T>C	uc002hbq.3	-	9	2070	c.1978A>G	c.(1978-1980)Agt>Ggt	p.S660G	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	660	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CGGGACCGACTCAGCAAAGCT	0.498000														71			102		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145012363	145012363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:145012363G>A	uc003zaf.1	-	2	801	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	PLEC_uc003zab.1_Missense_Mutation_p.H74Y|PLEC_uc003zac.1_Missense_Mutation_p.H78Y|PLEC_uc003zad.2_Missense_Mutation_p.H74Y|PLEC_uc003zae.1_Missense_Mutation_p.H42Y|PLEC_uc003zag.1_Missense_Mutation_p.H52Y|PLEC_uc003zah.2_Missense_Mutation_p.H60Y|PLEC_uc003zaj.2_Missense_Mutation_p.H101Y	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	211	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATGAGGTTGTGGCCATCGCGG	0.682000														42			9		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	58444	58444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrGL000209.1:58444G>A	uc002qud.4	+	2	321	c.248G>A	c.(247-249)gGa>gAa	p.G83E	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.G39E|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.G83E|KIR2DL2_uc002quc.4_Missense_Mutation_p.G44E|KIR2DL2_uc002quh.4_Intron|KIR2DL2_uc002que.4_Missense_Mutation_p.G83E|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Missense_Mutation_p.G83E|KIR2DL2_uc002qug.4_Missense_Mutation_p.G44E|KIR2DL2_uc010evf.3_5'Flank	NM_002255	NP_002246	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	42	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GTGCCTCAAGGAGGACACGTG	0.557000														66			50		0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26620781	26620782	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:26620781_26620782GG>TA	uc001blw.3	-	8	746_747	c.473_474CC>TA	c.(472-474)ccc>cTA	p.P158L	UBXN11_uc001bly.3_Intron|UBXN11_uc001blz.1_Missense_Mutation_p.P125L|UBXN11_uc001blx.3_Intron|UBXN11_uc001bma.3_Missense_Mutation_p.P125L|UBXN11_uc010ofb.1_Missense_Mutation_p.P83L|UBXN11_uc010ofc.1_5'UTR	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	158						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CCTGGTCCATGGGCTCGCCCAC	0.614000														80			66		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100391745	100391745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100391745G>A	uc003uwj.3	+	44	8152	c.7987G>A	c.(7987-7989)Ggc>Agc	p.G2663S	ZAN_uc003uwk.3_Intron|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.G612S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2664	VWFC 5.				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)			TTTCTAGCTGGGCAGCAGCTT	0.642000														19			26		0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803747	137803747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:137803747C>T	uc003ldb.1	+	1	1879	c.1609C>T	c.(1609-1611)Ccc>Tcc	p.P537S		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	537					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AACCTTTTCTCCCAGGACAAT	0.512000														14			80		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100192755	100192755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100192755C>T	uc011kjz.1	+	6	1165	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I	FBXO24_uc003uvl.1_Intron|FBXO24_uc003uvm.1_Missense_Mutation_p.T328I|FBXO24_uc003uvn.1_Missense_Mutation_p.T23I|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.T316I|LOC100129845_uc022air.1_Intron	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	328						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAGGTGCATACCCCAGGGGTG	0.607000														107			43		0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161677099	161677099	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:161677099C>T	uc001gbe.3	+	0	338	c.96C>T	c.(94-96)tcC>tcT	p.S32S	FCRLA_uc001gbg.3_Silent_p.S32S|FCRLA_uc009wup.3_Silent_p.S32S|FCRLA_uc009wuq.3_Silent_p.S32S|FCRLA_uc001gbd.3_Silent_p.S32S|FCRLA_uc001gbf.3_Silent_p.S32S|FCRLA_uc009wuo.3_Silent_p.S32S	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	15					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCTACCTTTCCCTTGGTGTGC	0.493000														13			24		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76657064	76657064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:76657064C>T	uc003pik.1	-	13	2141	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	671	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGTCTATTTCCAGATGGAGT	0.418000														30			44		0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209007373	209007373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:209007373C>T	uc002vcp.4	-	2	550	c.517G>A	c.(517-519)Gat>Aat	p.D173N	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	173					visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CAGTACAAATCCATGACTCGT	0.443000														85			64		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095748	124095748	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:124095748C>T	uc010saf.2	+	0	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	117						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTTACTTCTTCCTCATTTTTG	0.453000														116			90		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148365	34148365	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:34148365C>T	uc004ddg.3	-	0	2083	c.2031G>A	c.(2029-2031)agG>agA	p.R677R		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	677										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGTGGAATTTCCTGCCCCAGT	0.433000														6			83		0	0	1	0	0
TPT1	7178	broad.mit.edu	37	13	45914166	45914166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:45914166C>T	uc001uzy.1	-	2	349	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	TPT1_uc001uzz.1_Missense_Mutation_p.E52K|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|TPT1-AS1_uc010tfr.2_5'Flank|TPT1-AS1_uc001vac.3_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	Homo sapiens tumor protein, translationally-controlled 1 (TPT1), mRNA.	86					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TTGTAGGCTTCTTTTGTGAAA	0.433000														85			46		0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52188700	52188700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:52188700C>T	uc002abn.3	+	6	995	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	TMOD3_uc010bfc.1_Non-coding_Transcript	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	Homo sapiens tropomodulin 3 (ubiquitous) (TMOD3), mRNA.	238						cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.R238Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TGCAGCCACCCGGAGCAATGA	0.398000														118			79		0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135079073	135079073	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:135079073G>A	uc003vsv.2	-	9	1555	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	CNOT4_uc011kpy.2_Silent_p.F408F|CNOT4_uc011kpz.2_Silent_p.F405F|CNOT4_uc003vst.3_Silent_p.F408F|CNOT4_uc003vss.3_Silent_p.F405F|CNOT4_uc003vsu.2_Silent_p.F405F	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	408					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GAGTGACATCGAAGGGATCAA	0.468000														56			61		0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74077595	74077595	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:74077595C>T	uc002sju.3	+	7	1162	c.960C>T	c.(958-960)ttC>ttT	p.F320F	STAMBP_uc002sjs.3_Silent_p.F320F|STAMBP_uc002sjv.3_Silent_p.F320F	NM_006463	NP_998787	O95630	STABP_HUMAN	Homo sapiens STAM binding protein (STAMBP), transcript variant 1, mRNA.	320	MPN.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						AAGAACTTTTCCTCATACAGG	0.468000														56			42		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986293	53986293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:53986293C>T	uc011dxa.2	+	1	178	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	MLIP_uc003pcf.2_Missense_Mutation_p.P38S|MLIP_uc003pcg.4_Missense_Mutation_p.P38S|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	38						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CACATTTGTCCCCACTGTCAG	0.413000														120			47		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131519695	131519695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:131519695C>T	uc021voy.1	+	0	50	c.50C>T	c.(49-51)tCc>tTc	p.S17F	FAM123C_uc002trw.2_Missense_Mutation_p.S17F|FAM123C_uc010fmv.2_Missense_Mutation_p.S17F|FAM123C_uc010fms.1_Missense_Mutation_p.S17F|FAM123C_uc010fmt.1_Missense_Mutation_p.S17F|FAM123C_uc010fmu.1_Missense_Mutation_p.S17F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	17										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGCAGGTTTCCCACGAGAAA	0.617000														42			14		0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61096997	61096997	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:61096997C>T	uc001nrc.4	-	3	613	c.387G>A	c.(385-387)cgG>cgA	p.R129R	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.R129R|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Silent_p.R129R|DDB1_uc009ynl.1_Intron	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	129	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.C128C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCCAATCATCCGGCACTCAG	0.512000								Nucleotide excision repair (NER)						30			22		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632538	143632538	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:143632538C>T	uc011ktv.2	+	0	213	c.213C>T	c.(211-213)gtC>gtT	p.V71V		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTGTCGATGTCTCCTATGCCA	0.512000														246			113		0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3430129	3430129	+	RNA	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:3430129C>T	uc010qxs.1	+	10		c.1228C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CAAATCCTTTCGAGCAGCGCC	0.547000														33			28		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	14	36840665	36840665	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:36840665A>C	uc001wtp.3	+	0	296	c.47A>C	c.(46-48)cAa>cCa	p.Q16P		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	16						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GGGTCTCCACAAATGCTCACC	0.468000														21			4		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89416215	89416215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:89416215C>T	uc010upo.1	+	15	7666	c.7292C>T	c.(7291-7293)cCc>cTc	p.P2431L	ACAN_uc010upp.1_Missense_Mutation_p.P2393L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2431					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)			AATGATGTTCCCTGCAATTAC	0.557000														39			27		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142487553	142487553	+	Silent	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:142487553A>G	uc003ywi.2	-	11	1476	c.1395T>C	c.(1393-1395)acT>acC	p.T465T	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	465							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCGTGCACAGAGTGTCCTGGG	0.672000														76			15		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179380307	179380307	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:179380307A>C	uc001gmo.3	+	11	1523	c.1136A>C	c.(1135-1137)tAt>tCt	p.Y379S	AXDND1_uc001gmn.2_Missense_Mutation_p.Y167S|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.Y337S	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	379								p.Y379*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CATGACTTATATACATTACAA	0.289000														52			53		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91222268	91222268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:91222268C>T	uc001kgm.3	-	2	369	c.68G>A	c.(67-69)gGa>gAa	p.G23E		NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	0						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TTCTTCTTTTCCAGGTTGCTC	0.488000														19			15		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703593	55703593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55703593G>A	uc010ris.2	-	0	284	c.284C>T	c.(283-285)tCc>tTc	p.S95F		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCATAATAGGAAATAGATTT	0.408000														14			7		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217200	21217200	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:21217200C>T	uc003zor.1	-	0	111	c.105G>A	c.(103-105)agG>agA	p.R35R	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	35					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCAAGGCCCTCCTATTACCCA	0.507000														19			66		0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942595	154942595	+	Silent	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:154942595G>C	uc001ffv.3	-	0	629	c.408C>G	c.(406-408)cgC>cgG	p.R136R	SHC1_uc001ffw.3_Silent_p.R136R|SHC1_uc001ffx.3_Silent_p.R26R|SHC1_uc001ffy.3_Silent_p.R26R|SHC1_uc001ffz.1_5'Flank	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	136					Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCTCCCGTGGCGGGTCCACT	0.647000														81			54		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813294	106813294	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:106813294C>T	uc003ymd.3	+	7	1007	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ZFPM2_uc011lhs.2_Silent_p.F59F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	328					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)			TGGAAGAATTCCTGCCCCCTG	0.428000														128			41		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698525	43698525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43698525C>T	uc002ovy.3	-	4	1312	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Missense_Mutation_p.E311K|PSG4_uc002owb.3_Missense_Mutation_p.E311K	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	404	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTGGAGCTTTCCTTGCCAGTG	0.468000														248			193		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815211	147815211	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:147815211G>A	uc003weu.2	+	16	2900	c.2384_splice	c.e16-1	p.R795_splice		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	795	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCCCACAGGGAATTATTGGA	0.418000										HNSCC(39;0.1)				85			36		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36871096	36871096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:36871096C>T	uc003cgj.3	-	21	8884	c.8636G>A	c.(8635-8637)cGa>cAa	p.R2879Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2879					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAACCAGTCTCGTGCATCCCT	0.483000														65			56		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208693168	208693168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:208693168G>A	uc002vcl.2	-	7	2651	c.2161C>T	c.(2161-2163)Ccc>Tcc	p.P721S		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	721					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCGGGCAGGGGACAGACTTT	0.502000														62			42		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9220803	9220803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:9220803C>T	uc001qvk.1	-	34	4497	c.4384G>A	c.(4384-4386)Gag>Aag	p.E1462K	A2M_uc009zgk.1_Missense_Mutation_p.E1312K	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1462					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCATTGTACTCAGCAATTGCA	0.423000														33			25		0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101594224	101594224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:101594224C>T	uc004ayz.3	+	3	902	c.902C>T	c.(901-903)cCc>cTc	p.P301L		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	301						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				ATGCAATCCCCCGTCGATGTC	0.582000														4			26		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750006	30750006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:30750006C>T	uc002dze.1	+	33	9030	c.8645C>T	c.(8644-8646)tCa>tTa	p.S2882L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2677L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2882	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGGCACCCTCATCCACCTTG	0.587000														5			40		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579060	82579060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:82579060G>A	uc003uhx.2	-	5	11133	c.10844C>T	c.(10843-10845)tCc>tTc	p.S3615F	PCLO_uc003uhv.2_Missense_Mutation_p.S3615F|PCLO_uc010lec.3_Missense_Mutation_p.S580F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3546					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGGGTGGGGAAGGAGCCAG	0.498000														36			51		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215368394	215368394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:215368394G>A	uc001hkq.3	+	5	1091	c.922G>A	c.(922-924)Gga>Aga	p.G308R	KCNK2_uc001hko.3_Missense_Mutation_p.G304R|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Missense_Mutation_p.G293R	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	308							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GAGCATGATTGGAGATTGGCT	0.383000														153			90		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414344	121414344	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:121414344G>A	uc001pxx.3	+	12	1902	c.1773G>A	c.(1771-1773)ggG>ggA	p.G591G		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	591					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGAACCTGGGGAGAAGAGCA	0.507000														103			83		0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79941490	79941490	+	Silent	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:79941490T>C	uc002kcy.3	+	2	316	c.219T>C	c.(217-219)aaT>aaC	p.N73N	ASPSCR1_uc002kcx.3_Silent_p.N73N|ASPSCR1_uc021ufj.1_5'UTR|ASPSCR1_uc002kda.3_5'UTR|ASPSCR1_uc002kdb.1_5'UTR	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	73							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGCCCAACAATGCCAAGCTGG	0.612000			T	TFE3	alveolar soft part sarcoma									62			13		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329306	56329306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:56329306C>T	uc010ygf.2	-	3	946	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	79	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAAGATCTTCCTTACGCATC	0.458000														81			61		0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51581361	51581361	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:51581361G>C	uc001jis.4	+	4	666	c.463G>C	c.(463-465)Ggg>Cgg	p.G155R	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.G171R|NCOA4_uc010qhd.2_Missense_Mutation_p.G171R|NCOA4_uc010qhe.2_Missense_Mutation_p.G55R|NCOA4_uc010qhf.2_5'UTR|NCOA4_uc001jit.3_Missense_Mutation_p.G155R|NCOA4_uc009xoo.3_Missense_Mutation_p.G155R	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	155					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CACCACATTTGGGTCTCTCAA	0.443000			T	RET	papillary thyroid									91			34		0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99380380	99380380	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:99380380G>A	uc001dsb.3	-	4	1117	c.895C>T	c.(895-897)Cga>Tga	p.R299*	LPPR5_uc001dsc.3_Nonsense_Mutation_p.R299*	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	299						integral to membrane	hydrolase activity										CTTTCTACTCGAGGAATGCTG	0.358000														30			54		0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257771	41257771	+	Silent	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:41257771A>G	uc003azj.3	-	0	360	c.228T>C	c.(226-228)ggT>ggC	p.G76G	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	76					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						AATGACTTCCACCTCCGTTTA	0.353000														150			4		0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24036534	24036534	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:24036534G>A	uc002zxo.3	+	5	2170	c.913_splice	c.e5-1	p.E305_splice	GUSBP11_uc002zxh.4_5'Flank|GUSBP11_uc002zxi.4_5'Flank|GUSBP11_uc002zxk.4_Non-coding_Transcript|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Non-coding_Transcript|GUSBP11_uc002zxm.3_Non-coding_Transcript|RGL4_uc002zxn.3_Splice_Site_p.E305_splice|RGL4_uc002zxp.1_Splice_Site_p.E169_splice|RGL4_uc002zxq.3_Splice_Site_p.E169_splice			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	305	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCCTCTCCAGGAGTGCCTAAG	0.572000														37			57		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14561673	14561673	+	Missense_Mutation	SNP	C	T	T	rs111407877		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:14561673C>T	uc021wtn.1	-	9	1265	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	325					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GATCTCCAGCCGCACCTTCTC	0.617000														14			21		0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37398061	37398061	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:37398061C>T	uc003aqf.3	-	2	452	c.306G>A	c.(304-306)tcG>tcA	p.S102S	TEX33_uc003aqe.3_Silent_p.S17S	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	102																	TGTTCTCTCTCGAGGAGGATC	0.657000														14			14		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43447209	43447209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:43447209C>T	uc003tid.1	+	7	1285	c.680C>T	c.(679-681)cCt>cTt	p.P227L	HECW1_uc011kbi.1_Missense_Mutation_p.P227L|HECW1_uc003tie.1_Missense_Mutation_p.P259L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	227	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AACCCAGACCCTTATCTGAAG	0.438000														15			19		0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150923080	150923080	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:150923080A>G	uc001evu.2	+	12	1917	c.1727A>G	c.(1726-1728)cAt>cGt	p.H576R	SETDB1_uc009wmf.2_Missense_Mutation_p.H577R|SETDB1_uc001evv.2_Missense_Mutation_p.H576R|SETDB1_uc009wmg.2_Missense_Mutation_p.H576R	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACTTACCTCATGTCTGCAGC	0.582000														117			52		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584283	82584283	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:82584283A>G	uc003uhx.2	-	4	6275	c.5986T>C	c.(5986-5988)Tca>Cca	p.S1996P	PCLO_uc003uhv.2_Missense_Mutation_p.S1996P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1927					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTGTTCTGAAAGTCTTATC	0.383000														48			53		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71533542	71533542	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:71533542G>A	uc009zrt.1	-	2	372	c.210C>T	c.(208-210)ggC>ggT	p.G70G	TSPAN8_uc001swk.1_Silent_p.G70G|TSPAN8_uc001swj.1_Silent_p.G70G	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	70					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATCCCAGGAAGCCCAGAATCA	0.458000														69			503		0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115091157	115091157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:115091157C>T	uc001vuv.3	+	2	2172	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S	CHAMP1_uc010tko.2_Missense_Mutation_p.P614S|CHAMP1_uc010ahb.3_Missense_Mutation_p.P614S|CHAMP1_uc021rmx.1_Missense_Mutation_p.P614S	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	614	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TACTTTATTTCCTTCCTCAAA	0.358000														95			75		0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113416433	113416433	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:113416433C>T	uc002tib.3	+	6	1349	c.810C>T	c.(808-810)ccC>ccT	p.P270P	SLC20A1_uc002tic.1_Silent_p.P82P	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	270					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CTGAAAGCCCCTTAATGGAAA	0.403000														49			37		0	0	1	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339441	11339441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:11339441C>T	uc001qzr.1	-	0	103	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	35					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TTCTTGATCCCTTCAGAGCAG	0.438000														100			62		0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466668	57466668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:57466668C>T	uc001nkx.1	+	10	3016	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	ZDHHC5_uc001nky.1_Missense_Mutation_p.S534L|ZDHHC5_uc001nkz.1_Missense_Mutation_p.S401L	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	587						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AGTTCCTCCTCAGATGATTCA	0.612000														137			110		0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18916692	18916692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:18916692G>A	uc002gut.1	+	9	1041	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	SLC5A10_uc002gur.1_Missense_Mutation_p.E251K|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	327					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGTCTATGAGGAGAGACACCA	0.627000														71			24		0	0	1	0	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165195	39165195	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:39165195C>T	uc002hvt.1	-	0	172	c.132G>A	c.(130-132)caG>caA	p.Q44Q		NM_031958	NP_114164	Q9BYR8	KRA31_HUMAN	Homo sapiens keratin associated protein 3-1 (KRTAP3-1), mRNA.	44	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				AGCAGATGGGCTGAAGGAGGC	0.597000														23			36		0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46685477	46685477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:46685477G>A	uc002zhc.3	-	8	1235	c.1210C>T	c.(1210-1212)Ccc>Tcc	p.P404S	POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_3'UTR	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	404					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GTCGTCTTGGGGTCCAACCCC	0.517000														75			34		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769025	247769025	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247769025C>T	uc010pyz.2	+	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCACCATAATCATCATCTCAT	0.463000														156			82		0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72406574	72406574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:72406574G>A	uc010fep.3	-	21	2464	c.2326C>T	c.(2326-2328)Cgc>Tgc	p.R776C		NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	776					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TTGTTCTTGCGGCTAGTATCC	0.483000														52			46		0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104157369	104157369	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:104157369C>T	uc001kvb.3	+	7	853	c.588C>T	c.(586-588)gcC>gcT	p.A196A	NFKB2_uc001kva.3_Silent_p.A196A|NFKB2_uc010qqk.1_Silent_p.A196A|NFKB2_uc001kvd.3_Silent_p.A196A|NFKB2_uc009xxc.3_Silent_p.A196A	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	196	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GCTTCTCTGCCTTCCTTAGAG	0.582000			T	IGH@	B-NHL									248			128		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99306852	99306852	+	Silent	SNP	C	T	T	rs115129932	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:99306852C>T	uc003uru.3	-	10	1162	c.1059G>A	c.(1057-1059)ttG>ttA	p.L353L	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	353					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.L353>?(2)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAAGATACTCCAACTGTAGCA	0.378000														38			13		0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73151384	73151384	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:73151384G>A	uc003tzb.3	-	4	753	c.690C>T	c.(688-690)ttC>ttT	p.F230F	ABHD11_uc003tza.3_Silent_p.F117F|ABHD11_uc011kfb.2_Silent_p.F173F|ABHD11_uc003tzc.3_Silent_p.F223F	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	Homo sapiens abhydrolase domain containing 11 (ABHD11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	230							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCCTCCACACGAAGCGCCCGT	0.607000														138			52		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45671560	45671560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:45671560C>T	uc002zeg.1	-	8	1199	c.715G>A	c.(715-717)Gat>Aat	p.D239N	DNMT3L_uc002zeh.1_Missense_Mutation_p.D239N	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	239					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	p.F238F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TACACAAGATCGAAGGGTCCC	0.652000														35			46		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196659101	196659101	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:196659101C>T	uc002utj.4	-	56	10778	c.10677G>A	c.(10675-10677)ccG>ccA	p.P3559P	DNAH7_uc002uti.4_Silent_p.P42P	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3559	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P3559Q(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATCAGAGATCGGGTCCATGA	0.463000														90			72		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110451555	110451555	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:110451555T>G	uc003hzk.3	+	18	3242	c.3187T>G	c.(3187-3189)Tct>Gct	p.S1063A	SEC24B_uc003hzl.3_Missense_Mutation_p.S1028A|SEC24B_uc011cfp.2_Missense_Mutation_p.S1093A|SEC24B_uc011cfq.2_Missense_Mutation_p.S1062A|SEC24B_uc011cfr.2_Missense_Mutation_p.S1027A	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	1063					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTTACAGCACTCTGCATTGAT	0.418000														67			25		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970388	123970388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:123970388G>A	uc001lfv.3	+	8	6808	c.6448G>A	c.(6448-6450)Gtg>Atg	p.V2150M	TACC2_uc001lfw.3_Missense_Mutation_p.V296M|TACC2_uc009xzx.3_Missense_Mutation_p.V2105M|TACC2_uc010qtv.2_Missense_Mutation_p.V2154M|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.V228M|TACC2_uc001lga.3_Missense_Mutation_p.V228M|TACC2_uc009xzy.3_Missense_Mutation_p.V228M|TACC2_uc001lgb.3_Missense_Mutation_p.V185M|TACC2_uc010qtw.1_Missense_Mutation_p.V245M	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2150						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACCCCCCCAGTGAAGGAGAC	0.517000														99			82		0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806653	6806654	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:6806653_6806654CC>TT	uc001mer.2	+	0	406_407	c.385_386CC>TT	c.(385-387)cct>TTt	p.P129F		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATTTGTCATCCTCTGACATAC	0.535000														58			25		0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55913399	55913399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:55913399C>T	uc002xye.3	+	8	905	c.812C>T	c.(811-813)cCt>cTt	p.P271L	MIR5095_uc021wfc.1_Intron|SPO11_uc002xyf.3_Missense_Mutation_p.P233L	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	271					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TTTCATGTTCCTGTTTTCACT	0.323000								Editing and processing nucleases						38			32		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41064604	41064604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:41064604C>T	uc003jmj.4	-	4	920	c.430G>A	c.(430-432)Gat>Aat	p.D144N	HEATR7B2_uc021xxt.1_Missense_Mutation_p.D144N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	144							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						ATCCTTTCATCCTCGGCCAGC	0.463000														41			19		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156447389	156447389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:156447389G>A	uc003wmo.3	+	3	624	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.E132K|RNF32_uc003wmq.3_Missense_Mutation_p.E132K|RNF32_uc003wmr.3_Missense_Mutation_p.E132K|RNF32_uc003wms.3_Missense_Mutation_p.E132K|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.E132K	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	132						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CATCTGTAAAGAAGAATTCGA	0.557000														57			52		0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35660481	35660481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:35660481G>A	uc002nyg.2	+	8	588	c.500G>A	c.(499-501)aGg>aAg	p.R167K	FXYD5_uc021usk.1_Missense_Mutation_p.R167K|FXYD5_uc002nyh.2_Missense_Mutation_p.R167K|FXYD5_uc021usl.1_Missense_Mutation_p.R167K|FXYD5_uc002nyi.2_Missense_Mutation_p.R104K|FXYD5_uc002nyj.1_Non-coding_Transcript	NM_014164	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 2, mRNA.	167					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	p.C166Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGCAAGTGCAGGCAGCTGTCC	0.542000														61			47		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779373	159779373	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:159779373C>T	uc001fud.4	+	4	828	c.786C>T	c.(784-786)ctC>ctT	p.L262L	FCRL6_uc001fuc.2_Silent_p.L269L|FCRL6_uc009wsz.1_Silent_p.L167L|FCRL6_uc009wta.3_Silent_p.L262L	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	262	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCTCCCTCCTCTTCCCAGTGA	0.557000														40			32		0	0	1	0	0
SLC38A6	145389	broad.mit.edu	37	14	61497233	61497233	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:61497233C>T	uc001xfh.2	+	5	638	c.474C>T	c.(472-474)gaC>gaT	p.D158D	SLC38A6_uc001xfg.2_Silent_p.D158D|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_Silent_p.D135D	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	158					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGACTGGAGACTATAGTAGGT	0.308000														41			11		0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72083724	72083724	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:72083724G>C	uc001jqx.1	-	3	517	c.295C>G	c.(295-297)Ctc>Gtc	p.L99V	LRRC20_uc001jqy.1_Intron|LRRC20_uc001jqz.1_Missense_Mutation_p.L49V	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	99										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						ATGGCCTTGAGGTGCTGCAGG	0.617000														76			35		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064192	70064192	+	Missense_Mutation	SNP	C	T	T	rs142863825		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:70064192C>T	uc010kak.3	+	25	3803	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_uc003pev.4_Missense_Mutation_p.S1176L|BAI3_uc011dxx.2_Missense_Mutation_p.S382L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1176	Poly-Ser.				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)				TCTTCGAGTTCGTTTCCTAAT	0.393000														63			35		0	0	1	0	0
CLNS1A	1207	broad.mit.edu	37	11	77330736	77330736	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:77330736C>T	uc001oyk.3	-	5	743	c.651G>A	c.(649-651)ggG>ggA	p.G217G		NM_001293	NP_001284	P54105	ICLN_HUMAN	Homo sapiens chloride channel, nucleotide-sensitive, 1A (CLNS1A), mRNA.	217					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CCACCTCCATCCCATCTAAAC	0.388000														56			52		0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136665000	136665000	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:136665000T>G	uc003erh.3	+	2	932	c.802T>G	c.(802-804)Tac>Gac	p.Y268D	NCK1_uc011bme.2_Missense_Mutation_p.Y204D	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	268					T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						ACAGTGTGATTACATTAGGCC	0.408000														142			8		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450509	107450509	+	Missense_Mutation	SNP	G	A	A	rs138821621		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:107450509G>A	uc002tdq.3	-	2	1156	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ST6GAL2_uc002tdr.3_Missense_Mutation_p.S346L|ST6GAL2_uc002tds.3_Missense_Mutation_p.S346L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	346					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S346L(4)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTTACCTGCGAATTAATGAT	0.393000														128			80		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8948716	8948716	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:8948716C>T	uc001mhb.4	-	3	454	c.330G>A	c.(328-330)gaG>gaA	p.E110E	C11orf16_uc001mhc.4_Silent_p.E110E	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	110										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CCCCCTGTCTCTCCAGCTGTG	0.542000														18			17		0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23428959	23428959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:23428959C>T	uc003xdo.3	+	3	761	c.608C>T	c.(607-609)aCg>aTg	p.T203M	SLC25A37_uc003xdp.3_Non-coding_Transcript|SLC25A37_uc003xdq.3_Non-coding_Transcript|SLC25A37_uc003xdr.1_Non-coding_Transcript|FP15737_uc003xds.3_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	Homo sapiens solute carrier family 25, member 37 (SLC25A37), nuclear gene encoding mitochondrial protein, mRNA.	203					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		AGCTACACCACGCAGCTGACC	0.602000														60			60		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110739	55110739	+	Silent	SNP	G	A	A	rs78513473		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55110739G>A	uc010rie.2	+	0	63	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V21V(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACAT	0.413000														28			19		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109282807	109282807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:109282807G>A	uc003pss.4	+	13	2122	c.1948G>A	c.(1948-1950)Gtg>Atg	p.V650M	ARMC2_uc011eao.2_Missense_Mutation_p.V485M	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	650							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)		TGAGGAGCTGGTGATCAATGC	0.378000														36			15		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779300	31779300	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31779300G>A	uc003nxh.3	-	1	633	c.450C>T	c.(448-450)gcC>gcT	p.A150A	HSPA1L_uc010jte.3_Silent_p.A150A|HSPA1L_uc021yuz.1_Silent_p.A150A	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	150					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CATTGAAATAGGCTGGCACGG	0.488000														51			28		0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149760129	149760129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:149760129G>A	uc001esp.4	+	3	565	c.515G>A	c.(514-516)gGa>gAa	p.G172E	HIST2H2BF_uc010pbj.2_Intron|FCGR1A_uc009wlh.1_Non-coding_Transcript	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	172	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	p.G172E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAGGCATGGGAAAGCATCGC	0.438000														128			69		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98606063	98606064	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:98606063_98606064CC>TT	uc003upp.3	+	68	10984_10985	c.10775_10776CC>TT	c.(10774-10776)tcc>tTT	p.S3592F	TRRAP_uc011kis.2_Missense_Mutation_p.S3563F|TRRAP_uc003upr.3_Missense_Mutation_p.S3298F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3592	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTCACTTTCCCTTGTGGAGA	0.619000														247			87		0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72736948	72736948	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:72736948C>T	uc010wrc.2	+	1	340	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|RAB37_uc010wrb.2_Silent_p.F13F|RAB37_uc002jlk.3_Silent_p.F45F|RAB37_uc010wre.2_Intron	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	45					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	p.P49T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AAACATGTTTCCTGATCCAAT	0.572000														292			191		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117736	117736	+	RNA	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrGL000205.1:117736G>A	uc002kgk.4	+	0		c.1114G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGGCCTCATCGGCTTCGGTCG	0.617000														86			11		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954063	21954063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:21954063C>T	uc001rfh.3	-	37	4585	c.4565G>A	c.(4564-4566)gGa>gAa	p.G1522E		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1522	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G1522E(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAAATATTTCCTCGCTTCAT	0.408000														44			28		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457264	25457264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:25457264G>A	uc002wux.1	-	16	2737	c.2663C>T	c.(2662-2664)aCg>aTg	p.T888M	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	888					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGGCTCTGCGTAGCTTCTGT	0.697000														44			7		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31423046	31423046	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:31423046C>A	uc001bsi.1	-	16	2897	c.2784G>T	c.(2782-2784)ttG>ttT	p.L928F	PUM1_uc001bsf.1_Missense_Mutation_p.L594F|PUM1_uc001bsh.1_Missense_Mutation_p.L928F|PUM1_uc001bsj.1_Missense_Mutation_p.L902F|PUM1_uc010oga.1_Missense_Mutation_p.L784F|PUM1_uc001bsk.1_Missense_Mutation_p.L964F|PUM1_uc010ogb.1_Missense_Mutation_p.L869F|SNORD103A_uc021okl.1_5'Flank	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	928	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCTGTAGTGCCAATGACAGGA	0.438000														102			28		2.08457e-15	2.11066e-15	1	1	0
HEATR8	374977	broad.mit.edu	37	1	55151984	55151984	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:55151984G>A	uc010ooe.1	+	14	2898	c.2574G>A	c.(2572-2574)gtG>gtA	p.V858V	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.V426V|HEATR8_uc010ood.1_Silent_p.V376V|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Silent_p.V858V|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.V60V|HEATR8_uc001cxu.3_Silent_p.V4V	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	858						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGGCCGTGTGAGGCGCATCT	0.647000														73			24		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173675	207173675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:207173675G>A	uc002vbp.2	+	4	4673	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1475							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTCTTACAAAGAGGCAGACCT	0.373000														7			4		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134659722	134659723	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:134659722_134659723CC>TT	uc021qbc.1	-	43	6377_6378	c.6276_6277GG>AA	c.(6274-6279)tcggcc>tcAAcc	p.A2093T		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	254										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTCTCTGAGGCCGAGCAGCTCT	0.683000														26			9		0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84630843	84630843	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:84630843T>C	uc003pkf.3	+	7	739	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	203	CS.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TCAGAATGATTCCTTTAGAGC	0.264000														16			9		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224500	55224500	+	RNA	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:55224500C>T	uc002qgs.1	+	0		c.4900C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GGGTCAGGTCCTGTGAAGGGG	0.597000														15			22		0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125460023	125460023	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:125460023G>A	uc001ugy.3	-	5	1021	c.922C>T	c.(922-924)Cga>Tga	p.R308*		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	308	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCGGCCACTCGGCGGGGCTCC	0.632000														142			64		0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19165058	19165058	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:19165058G>A	uc002nld.3	+	5	1383	c.951G>A	c.(949-951)ggG>ggA	p.G317G	ARMC6_uc002nlc.3_Silent_p.G292G|ARMC6_uc010xql.2_Silent_p.G224G|ARMC6_uc010xqm.2_Silent_p.G317G	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	317							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TCGACCTCGGGGGCCTGAGCA	0.622000											OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		154			9		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885234	88885234	+	Silent	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:88885234C>G	uc003ydz.3	-	0	1063	c.966G>C	c.(964-966)gtG>gtC	p.V322V		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	322										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTTCTTCGTTCACATGCACGG	0.542000														46			50		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389691	48389691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:48389691G>A	uc001jez.3	-	0	1301	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	396	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCCAAGAAGGAGTTTCTGT	0.647000														51			16		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160196	160196	+	RNA	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrGL000192.1:160196C>T	uc010yih.1	-	11		c.2226G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGGAGCTTCCTCCATCCCTG	0.617000														21			16		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757999	53758000	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:53757999_53758000CC>TT	uc003dgv.4	+	13	2236_2237	c.2073_2074CC>TT	c.(2071-2076)ttccct>ttTTct	p.P692S	CACNA1D_uc003dgu.4_Missense_Mutation_p.P712S|CACNA1D_uc003dgy.4_Missense_Mutation_p.P692S|CACNA1D_uc003dgw.4_Missense_Mutation_p.P359S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	692					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTGACAATTTCCCTCAAGCACT	0.475000														52			40		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494352	7494352	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:7494352G>A	uc003bqm.2	+	5	1507	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V411V|GRM7_uc003bql.2_Silent_p.V411V|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	411					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCCAGTTCGTGATTGACGCAG	0.493000														40			31		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541105	55541105	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55541105C>T	uc010ril.2	+	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64_L65>LI(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGTGCTTTTTCCTTAGTCACT	0.398000														51			37		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413869	22413869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:22413869G>A	uc001yuf.3	+	0	408	c.168G>A	c.(166-168)atG>atA	p.M56I	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CAACTGTCATGAACTCTAGAG	0.507000														241			57		0	0	1	0	0
FAM48B1	100130302	broad.mit.edu	37	X	24382002	24382002	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:24382002G>A	uc011mjx.2	+	0	1125	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						AAGCCAGGCAGAAGAGCCAGA	0.557000														4			35		0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409284	47409284	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:47409284G>A	uc010acr.3	-	3	1793	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	HTR2A_uc001vbr.3_Silent_p.I284I	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	368					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGAGATAACCGATCCAAACAA	0.458000														38			39		0	0	1	0	0
SLC25A34	284723	broad.mit.edu	37	1	16063163	16063164	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:16063163_16063164CC>TT	uc001axb.1	+	0	355_356	c.183_184CC>TT	c.(181-186)gcccga>gcTTga	p.R62*		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	62					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTGGCCCGAGCAGACGG	0.658000														13			18		0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52538277	52538277	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52538277G>A	uc002pyk.3	-	4	973	c.655C>T	c.(655-657)Cag>Tag	p.Q219*		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCAGTGAGCTGAGACTTCTTG	0.398000														83			61		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33466067	33466067	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:33466067A>G	uc003zsz.3	-	18	2465	c.2364_splice	c.e18+1	p.K788_splice	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Splice_Site_p.K785_splice|NOL6_uc011lob.2_Splice_Site_p.K736_splice|NOL6_uc003ztb.1_Splice_Site_p.K788_splice	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	788					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CACCAGCCTAACCTTAAGGAC	0.622000														9			55		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10360752	10360752	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:10360752G>C	uc002gmn.3	-	15	1993	c.1882C>G	c.(1882-1884)Caa>Gaa	p.Q628E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	628	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGCAGTTTGTGCCCCAGAG	0.443000														61			3		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31962366	31962366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31962366G>A	uc011doy.2	+	20	2735	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	C4B_uc011doz.2_Missense_Mutation_p.R895Q	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	895					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGCTCTGCCCGGCCTGTTGCC	0.692000														28			27		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964946	88964946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:88964946G>A	uc011khi.2	+	3	3188	c.2650G>A	c.(2650-2652)Gga>Aga	p.G884R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	884						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGTGATCTGGGAAAAGTCAG	0.433000										HNSCC(36;0.09)				27			18		0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7584289	7584289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:7584289C>T	uc002mgn.2	+	1	331	c.161C>T	c.(160-162)cCg>cTg	p.P54L	ZNF358_uc021unu.1_Missense_Mutation_p.P54L	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	54					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AACACTGTCCCGGAAGACGTG	0.612000														51			44		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043008	25043008	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:25043008G>A	uc001wpq.3	-	4	640	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	201	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.D200N(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GGGGGCCTCCGGAATCCCCCT	0.607000														71			25		0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53245583	53245584	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:53245583_53245584GG>AA	uc001cuj.3	+	3	1205_1206	c.1010_1011GG>AA	c.(1009-1011)cgg>cAA	p.R337Q	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Missense_Mutation_p.R328Q	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	337							protein binding	p.R337L(2)|p.E336Q(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TACAGTGAACGGGCATTCTTTG	0.386000														49			78		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36211255	36211256	+	Missense_Mutation	DNP	TG	GT	GT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:36211255_36211256TG>GT	uc021usv.1	+	2	1006_1007	c.1006_1007TG>GT	c.(1006-1008)tgg>GTg	p.W336V	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	778					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						TGAGGAAAGTTGGCAGGATGTC	0.470000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				13			17		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216800	3216800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:3216800G>A	uc022aqr.1	-	20	3568	c.3178C>T	c.(3178-3180)Cac>Tac	p.H1060Y	CSMD1_uc011kwj.2_Missense_Mutation_p.H453Y|CSMD1_uc003wqe.3_Missense_Mutation_p.H217Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1061	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACCAAAGTGAAAACCAATT	0.522000														26			18		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153633	2153633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:2153633G>A	uc002cos.1	-	22	8634	c.8425C>T	c.(8425-8427)Ccc>Tcc	p.P2809S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.P2809S|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2809	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGCCTCGGGGATGGAGAAG	0.647000														47			28		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373820	373820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:373820G>A	uc001lpb.3	+	7	784	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	259						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.V258L(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACCACGTGGAAGTGGGCGT	0.647000														128			34		0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543655	23543655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:23543655G>A	uc002nre.3	-	3	2239	c.2126C>T	c.(2125-2127)gCt>gTt	p.A709V	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.A677V	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	709						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTCTCTCCAGCATGTATTAT	0.323000														61			52		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10702984	10702984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:10702984G>A	uc001aro.3	-	19	4414	c.4094C>T	c.(4093-4095)tCc>tTc	p.S1365F		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGACTCAGAGGACATGGCGCC	0.667000														20			38		0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10927439	10927439	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:10927439G>A	uc002rau.3	-	10	1263	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	PDIA6_uc010yjg.2_Silent_p.S372S|PDIA6_uc002rav.3_Silent_p.S427S|PDIA6_uc010yjh.2_Silent_p.S380S|PDIA6_uc002raw.3_Silent_p.S423S	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	375					cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GCTCACTGAAGGAGCCTTTTA	0.448000														89			60		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148924065	148924065	+	Silent	SNP	G	A	A	rs117829763	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:148924065G>A	uc003ewy.4	-	5	1351	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Silent_p.I147I|CP_uc003ewz.3_Silent_p.I366I|CP_uc010hvf.1_Silent_p.I92I	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	366					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCTTCCCACGGATATTATCCT	0.413000														88			27		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133293	64133293	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:64133293G>A	uc003dmf.3	-	6	1459	c.873C>T	c.(871-873)tcC>tcT	p.S291S		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	291	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCCCCAGGAGGGATTTCTTGC	0.542000														117			75		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38560420	38560420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38560420G>A	uc002huq.3	-	18	2426	c.2267C>T	c.(2266-2268)tCt>tTt	p.S756F	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	756					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATGATGATAAGAAGACATTTC	0.393000														211			97		0	0	1	0	0
UBAP1	51271	broad.mit.edu	37	9	34241423	34241423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:34241423C>T	uc022bfy.1	+	4	798	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	UBAP1_uc010mka.2_Missense_Mutation_p.R170W|UBAP1_uc003zty.3_Missense_Mutation_p.R134W|UBAP1_uc022bfz.1_Missense_Mutation_p.R134W|UBAP1_uc003ztx.3_Missense_Mutation_p.R134W|UBAP1_uc011loj.2_Missense_Mutation_p.R198W|UBAP1_uc011loi.2_Missense_Mutation_p.R170W|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Missense_Mutation_p.R134W	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	134						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CACACCAACTCGGGTCAGCAG	0.493000														7			61		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113380144	113380144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:113380144G>A	uc003eam.3	-	6	796	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F	KIAA2018_uc003eal.3_Missense_Mutation_p.L73F	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	129					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAGTTTTTAAGATTTCCTTTC	0.368000														62			28		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17036182	17036182	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:17036182C>T	uc002nfb.3	-	26	3544	c.3512_splice	c.e26-1	p.G1171_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1124						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATGACGTCCCCTGGTGGGAA	0.562000														76			68		0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74914157	74914157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:74914157G>A	uc009xqx.3	-	5	883	c.640C>T	c.(640-642)Cca>Tca	p.P214S	ECD_uc001jtn.3_Missense_Mutation_p.P214S|ECD_uc009xqy.3_Missense_Mutation_p.P214S|ECD_uc001jto.3_Intron	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	214					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ATGCCAGCTGGAAGGAAGCAG	0.473000														25			15		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294703	31294703	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:31294703G>A	uc021sia.1	-	26	4565	c.4251C>T	c.(4249-4251)tcC>tcT	p.S1417S	TRPM1_uc010azy.3_Silent_p.S1285S|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.S1400S|TRPM1_uc001zfm.3_Silent_p.S1378S	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1378					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTAAACTTGGGGAAATAGTTT	0.348000														65			46		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826965	96826965	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:96826965C>T	uc001kkb.3	-	3	576	c.481_splice	c.e3+1	p.A161_splice	CYP2C8_uc010qoa.2_Splice_Site_p.A91_splice|CYP2C8_uc010qoc.2_Splice_Site_p.A59_splice|CYP2C8_uc001kkc.3_Splice_Site|CYP2C8_uc010qob.2_Splice_Site_p.A75_splice|CYP2C8_uc021pwl.1_Splice_Site_p.A91_splice|CYP2C8_uc010qod.1_Splice_Site_p.A75_splice	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	161					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGTCACCCACCCTTGGTTTTT	0.507000														65			62		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209141445	209141445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:209141445G>A	uc002vcz.3	+	3	490	c.332G>A	c.(331-333)aGg>aAg	p.R111K	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.R111K|PIKFYVE_uc002vcw.3_Missense_Mutation_p.R111K|PIKFYVE_uc002vcv.3_Intron|PIKFYVE_uc002vcx.3_Intron	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	111					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.R110G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GACACAAGAAGGAAAGCAGAA	0.418000														37			34		0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33310184	33310184	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:33310184A>G	uc002hik.2	+	1	289	c.160A>G	c.(160-162)Aag>Gag	p.K54E	LIG3_uc002hii.3_Missense_Mutation_p.K54E|LIG3_uc002hij.3_Missense_Mutation_p.K54E|LIG3_uc010cth.1_Missense_Mutation_p.K63E	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	54					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCTGAGAAGAAAGCCTGTTCT	0.498000								Other BER factors						115			39		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31027130	31027130	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:31027130C>T	uc002yno.1	-	5	1244	c.780_splice	c.e5+1	p.L260_splice	GRIK1_uc002ynn.3_Splice_Site_p.L260_splice|GRIK1_uc011acs.2_Splice_Site_p.L260_splice|GRIK1_uc011act.2_Splice_Site_p.L204_splice|GRIK1_uc010glq.1_Splice_Site_p.L118_splice|GRIK1_uc002ynr.3_Splice_Site_p.L260_splice	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	260					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ATGCACTTACCAGGGTTGTGA	0.413000														105			120		0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122627011	122627011	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:122627011G>A	uc003yph.2	-	3	1535	c.997C>T	c.(997-999)Cga>Tga	p.R333*		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	333						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CACTTAGATCGAGCTGTGTAT	0.468000														33			63		0	0	1	0	0
THY1	7070	broad.mit.edu	37	11	119290157	119290157	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:119290157G>A	uc001pwr.3	-	3	895	c.447C>T	c.(445-447)tcC>tcT	p.S149S	LOC100499227_uc001pwo.3_Intron|LOC100499227_uc001pwp.2_Intron	NM_006288	NP_006279	P04216	THY1_HUMAN	Homo sapiens Thy-1 cell surface antigen (THY1), mRNA.	149					T cell receptor signaling pathway|angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of T cell receptor signaling pathway|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|positive regulation of T cell activation|positive regulation of release of sequestered calcium ion into cytosol|retinal cone cell development	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|Rho GTPase activator activity|integrin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GGAGGGAGAGGGAGAGCAGGA	0.602000														93			64		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417739	57417739	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:57417739C>T	uc001cyp.3	-	4	715	c.648G>A	c.(646-648)gtG>gtA	p.V216V	C8B_uc010oon.2_Silent_p.V154V|C8B_uc010ooo.2_Silent_p.V164V	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	216	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTAGCTTTCCACATTGTAGG	0.552000														45			75		0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27143381	27143381	+	Splice_Site	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:27143381A>C	uc010sjl.2	-	6	1106	c.868_splice	c.e6+1	p.G290_splice		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	290						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CCACATACTCACCTAGGGAAG	0.438000														102			27		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826539	23826539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:23826539C>T	uc003sws.4	+	19	2550	c.2483C>T	c.(2482-2484)tCa>tTa	p.S828L	STK31_uc003swt.4_Missense_Mutation_p.S805L|STK31_uc011jze.2_Missense_Mutation_p.S828L|STK31_uc010kuq.3_Missense_Mutation_p.S805L|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	828	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.N827H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCTTTAAATTCAGAAGTAAGT	0.353000														46			39		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908545	48908545	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:48908545C>T	uc002pjc.4	+	2	1108	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	340						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	ATTATGGTTTCCTTCCTGAGC	0.682000														21			21		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110864826	110864826	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:110864826C>T	uc001vqw.4	-	6	447	c.325_splice	c.e6-1	p.G109_splice		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	109					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGAATTCCCTGCAATGAA	0.468000														230			72		0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79536116	79536116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:79536116C>T	uc002kau.3	-	13	1557	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	NPLOC4_uc002kat.4_Missense_Mutation_p.D459N|NPLOC4_uc010wur.1_Missense_Mutation_p.D298N|NPLOC4_uc010dic.3_5'Flank|NPLOC4_uc002kas.3_5'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	459					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TAAACTGGATCCTTGGGGAAA	0.423000														84			10		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347291	48347291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:48347291G>A	uc010rhv.2	+	0	799	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CACCTGTGGAGCCCACTTCAT	0.438000														86			46		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38974064	38974064	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:38974064G>A	uc002oit.3	+	32	4972	c.4842G>A	c.(4840-4842)gtG>gtA	p.V1614V	RYR1_uc002oiu.3_Silent_p.V1614V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1614	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCTGCAGGTGGAGACGAGGC	0.697000														10			5		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108476006	108476006	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:108476006G>A	uc003dxh.2	-	0	125	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	9					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGATTAGGATGAGAAGGAGGC	0.517000														52			15		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122335957	122335957	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:122335957G>T	uc003efm.2	+	5	1012	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	PARP15_uc003efn.2_Nonsense_Mutation_p.E190*|PARP15_uc003efo.1_Nonsense_Mutation_p.E63*|PARP15_uc003efp.1_Nonsense_Mutation_p.E82*|PARP15_uc011bjt.1_Nonsense_Mutation_p.E82*	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	294	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.E316K(1)|p.E82K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TATAGCCACTGAACAGGTAGA	0.353000														137			4		1	1	1	1	0
KIAA1257	57501	broad.mit.edu	37	3	128690270	128690271	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:128690270_128690271CC>TT	uc003elj.4	-	7	1223_1224	c.1027_1028GG>AA	c.(1027-1029)ggg>AAg	p.G343K	KIAA1257_uc003elg.1_Missense_Mutation_p.G343K|AK125726_uc003elh.1_5'UTR|KIAA1257_uc003eli.4_Missense_Mutation_p.G231K	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	343										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TGAATCTTTCCCTTTAACTGTG	0.485000														5			8		0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882618	78882618	+	Silent	SNP	C	T	T	rs141986748		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:78882618C>T	uc002bdy.3	+	4	1085	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	295					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TGACTGTCTTCCTTCTGGTTA	0.358000														48			42		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56462805	56462805	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:56462805C>T	uc003pcy.4	-	28	4168	c.4060_splice	c.e28-1	p.V1354_splice	DST_uc010kaa.1_Splice_Site	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3766					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTGCTACCTGGGAAGGGA	0.403000														10			14		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185039047	185039047	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:185039047G>A	uc003iwc.3	-	3	682	c.540C>T	c.(538-540)ggC>ggT	p.G180G		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	180					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGTCGGCCCGGCCACTCCTGG	0.617000														31			15		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138430021	138430021	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:138430021C>T	uc003vuf.3	-	12	1563	c.1325G>A	c.(1324-1326)tGg>tAg	p.W442*	ATP6V0A4_uc003vug.3_Nonsense_Mutation_p.W442*|ATP6V0A4_uc003vuh.3_Nonsense_Mutation_p.W442*	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	442					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAAGGTGTTCCAAATCTGGCC	0.512000														110			49		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821894	72821895	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:72821894_72821895GG>AA	uc002fck.3	-	9	10953_10954	c.10280_10281CC>TT	c.(10279-10281)acc>aTT	p.T3427I	ZFHX3_uc002fcl.3_Missense_Mutation_p.T2513I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3427					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTCACGGGGGGTGTTTTTCTG	0.579000														16			114		0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86693821	86693821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:86693821C>T	uc002sri.4	+	9	1661	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	KDM3A_uc010ytj.2_Missense_Mutation_p.S445F|KDM3A_uc010ytk.2_Missense_Mutation_p.S393F	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	445					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CATGCACCTTCCCCATCGGAT	0.448000														95			56		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71715819	71715819	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:71715819G>C	uc001orl.1	-	23	6045	c.5873C>G	c.(5872-5874)aCt>aGt	p.T1958S	NUMA1_uc001orj.2_Missense_Mutation_p.T140S|NUMA1_uc009ysw.1_Missense_Mutation_p.T1525S|NUMA1_uc001ork.1_Missense_Mutation_p.T822S|NUMA1_uc001orm.1_Missense_Mutation_p.T1944S	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1958					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGGTCTCCAGTTTTCATCTC	0.607000			T	RARA	APL									58			47		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167254736	167254736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:167254736C>T	uc003fev.1	-	6	1124	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	WDR49_uc003feu.1_Missense_Mutation_p.E99K|WDR49_uc011bpd.1_Missense_Mutation_p.E338K|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	274										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTCCATTCTTCAGGCTGGATG	0.388000														19			23		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814835	106814835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:106814835G>A	uc003ymd.3	+	7	2548	c.2525G>A	c.(2524-2526)cGg>cAg	p.R842Q	ZFPM2_uc011lhs.2_Missense_Mutation_p.R573Q	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	842					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	p.R842R(1)		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)			CAGTCTGAGCGGACGACCACG	0.463000														5			4		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28893659	28893659	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:28893659G>A	uc001usb.3	-	23	3472	c.3187C>T	c.(3187-3189)Ctg>Ttg	p.L1063L	FLT1_uc010aap.2_Silent_p.L68L|FLT1_uc010aaq.2_Silent_p.L188L|FLT1_uc001usa.3_Silent_p.L281L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1063	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATCCATTTCAGAGGAAGTCGA	0.493000														26			20		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32739683	32739683	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:32739683A>G	uc001mtv.3	-	2	190	c.146T>C	c.(145-147)aTt>aCt	p.I49T	CCDC73_uc001mtw.1_Missense_Mutation_p.I49T|CCDC73_uc009yjt.3_Missense_Mutation_p.I49T	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	49										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCATAATGAATTTCTGCTTC	0.338000														49			44		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375791	175375791	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:175375791G>A	uc001gkp.1	-	0	141	c.60C>T	c.(58-60)atC>atT	p.I20I	TNR_uc009wwu.1_Silent_p.I20I|TNR_uc010pmz.1_Silent_p.I20I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	20					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I20I(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCCAGAAGGATCAGGTTGA	0.552000														168			91		0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3445875	3445875	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:3445875G>A	uc003ghc.3	+	4	588	c.585G>A	c.(583-585)aaG>aaA	p.K195K	HGFAC_uc010icw.3_Silent_p.K195K	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	195	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCACCGGCAAGGACTGCGGCA	0.687000														7			13		0	0	1	0	0
POU5F1P4	645682	broad.mit.edu	37	1	155403269	155403269	+	RNA	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:155403269G>A	uc010pgc.1	-	0		c.205C>T			ASH1L_uc001fkt.3_Intron|ASH1L_uc009wqq.3_Intron|POU5F1P4_uc010pgd.2_Missense_Mutation_p.G93R					Homo sapiens partial mRNA for POU class 5 homeobox 1 pseudogene 4, clone BM-TAKA-09_AS.																		GGGCGAAGCAGGAGTCAGGGT	0.632000														14			18		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24731320	24731321	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24731320_24731321GG>AA	uc001wod.3	-	1	362_363	c.238_239CC>TT	c.(238-240)cct>TTt	p.P80F	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	80	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCGGGAGCCAGGTCTTCGAGTG	0.653000														95			58		0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052520	52052520	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:52052520G>A	uc003pak.1	+	1	192	c.147G>A	c.(145-147)ctG>ctA	p.L49L		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	49					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TGGTCAACCTGAACATCCATA	0.493000														84			60		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123055670	123055670	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:123055670C>T	uc001ucv.3	+	23	2179	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	KNTC1_uc010taf.2_Silent_p.S635S	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	672					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATTGGATTTCCTTGGTATGAT	0.378000														43			9		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996995	31996995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31996995G>A	uc011dpd.2	+	27	3607	c.3556G>A	c.(3556-3558)Ggg>Agg	p.G1186R	C4B_uc011dpe.2_Missense_Mutation_p.G1186R	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1186					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGCAAGTGCTGGGCTCCTGGG	0.617000														176			59		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452956	35452956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:35452956C>T	uc001byh.3	-	15	3955	c.3727G>A	c.(3727-3729)Gga>Aga	p.G1243R	LOC653160_uc001byd.4_5'Flank|ZMYM6NB_uc001bye.3_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc021olg.1_Missense_Mutation_p.G556R|ZMYM6_uc010oht.2_Missense_Mutation_p.G1146R	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	1243					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GCTTGTAATCCTAAATCTGAA	0.333000														111			29		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40424134	40424134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40424134G>A	uc002omp.4	-	3	2077	c.2069C>T	c.(2068-2070)aCc>aTc	p.T690I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	690	VWFD 1.					extracellular region	protein binding	p.T690T(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGTCCAGGGTGTCATGGCA	0.652000														204			182		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107032347	107032347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:107032347C>T	uc010ywi.1	-	20	5080	c.5023G>A	c.(5023-5025)Gaa>Aaa	p.E1675K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1675					intracellular transport		binding	p.R1674L(1)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCTCTATTTCCCGAAGCAGG	0.438000														109			95		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	89602	89602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrGL000209.1:89602G>A	uc002quk.1	+	3	542	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	163							receptor activity										GAGGGCCCATGAACCTAGGCT	0.612000														4			57		0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809918	5809918	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:5809918C>T	uc010qzo.2	-	0	129	c.129G>A	c.(127-129)ggG>ggA	p.G43G	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43G(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGCCGAAGTTCCCTGTAATAG	0.463000														33			23		0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897243	61897243	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:61897243G>A	uc002jbz.3	-	19	2541	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	FTSJ3_uc002jca.3_Silent_p.F821F	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	821					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCACCACCTTGAAATGACCTC	0.527000														138			112		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172831	5172832	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:5172831_5172832GG>AA	uc010qyy.2	-	0	768_769	c.768_769CC>TT	c.(766-771)ctcctt>ctTTtt	p.L257F		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	257					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAAGGCAAGGAGGTAGAACT	0.426000														71			28		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31918680	31918680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31918680G>A	uc003nyj.4	+	13	2092	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	CFB_uc011dor.2_Missense_Mutation_p.R1107Q	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	605	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGAACAACTCGAGCTTTGAGG	0.527000														82			52		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613385	3613385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:3613385G>A	uc010btn.3	-	4	1964	c.1553C>T	c.(1552-1554)tCc>tTc	p.S518F		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	518					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAGAGGCCGGAGAGGAAGCG	0.687000														3			7		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30365209	30365209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:30365209G>A	uc002ymr.2	-	0	69	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGCGGCGGAAGAGGACACCCT	0.632000														6			7		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570432	61570432	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:61570432A>G	uc010xeu.2	+	8	1474	c.1141A>G	c.(1141-1143)Act>Gct	p.T381A	SERPINB2_uc002ljo.3_Missense_Mutation_p.T381A|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	381		Reactive bond.			anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GACAGGGAGAACTGGACATGG	0.458000														46			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579780	179579780	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179579780C>T	uc021vsy.1	-	86	22626	c.22401G>A	c.(22399-22401)ggG>ggA	p.G7467G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G4128G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8394	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGATATTCCCCAATGTCTG	0.453000														183			127		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6194852	6194852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:6194852C>T	uc001amb.2	-	18	3049	c.2938G>A	c.(2938-2940)Gta>Ata	p.V980I	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	980					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCAGCGATACTTGGTTCCCG	0.567000														188			312		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477040	179477040	+	Missense_Mutation	SNP	C	T	T	rs148018042	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179477040C>T	uc021vsy.1	-	214	42733	c.42508G>A	c.(42508-42510)Gaa>Aaa	p.E14170K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E7865K|TTN_uc021vta.1_Missense_Mutation_p.E7798K|TTN_uc021vtb.1_Missense_Mutation_p.E7673K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15097	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E7865K(1)|p.E7673K(1)|p.E14170K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCAATTTCGGTGTAGTCG	0.453000														23			13		0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83839611	83839611	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:83839611T>C	uc003hnt.2	+	4	2365	c.2246T>C	c.(2245-2247)aTt>aCt	p.I749T	THAP9_uc003hns.1_Missense_Mutation_p.I605T|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Missense_Mutation_p.I466T	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	749							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCCTCTAAAATTGGGTCACTA	0.378000														39			32		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5144378	5144378	+	Silent	SNP	C	T	T	rs149127752		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:5144378C>T	uc010xim.2	+	19	3066	c.2958C>T	c.(2956-2958)ttC>ttT	p.F986F	KDM4B_uc002mbq.4_Silent_p.F952F|KDM4B_uc002mbr.4_Silent_p.F710F	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	952	Tudor 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AAGTGAACTTCGACGATGGCT	0.637000														18			13		0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39340268	39340268	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:39340268C>T	uc021olr.1	-	0	1503	c.1503G>A	c.(1501-1503)acG>acA	p.T501T	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	501					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TGAGATTGTTCGTTAGGGACA	0.448000														58			151		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701808	17701808	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:17701808T>G	uc002grm.3	+	2	6015	c.5546T>G	c.(5545-5547)aTg>aGg	p.M1849R	RAI1_uc002grn.1_Missense_Mutation_p.M1849R	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1849						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGGAGGCCATGAAGGTGGCC	0.677000														70			3		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713681	70713681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:70713681C>T	uc010ttg.2	-	0	838	c.187G>A	c.(187-189)Gag>Aag	p.E63K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		AATACATCCTCTTGCACCTTT	0.388000														52			52		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:82582174G>A	uc003uhx.2	-	4	8384	c.8095C>T	c.(8095-8097)Cct>Tct	p.P2699S	PCLO_uc003uhv.2_Missense_Mutation_p.P2699S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2630					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTCTGGAGGAATTGTTATG	0.403000														22			8		0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20229598	20229598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:20229598G>A	uc002zrv.3	-	1	1259	c.1058C>T	c.(1057-1059)gCt>gTt	p.A353V	RTN4R_uc002zru.3_Missense_Mutation_p.A125V	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	Homo sapiens reticulon 4 receptor (RTN4R), mRNA.	353					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCCTGCCGAAGCTGGTCTTCC	0.667000														80			42		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155206068	155206068	+	Nonsense_Mutation	SNP	G	A	A	rs121908309		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:155206068G>A	uc001fjh.3	-	7	1358	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	GBA_uc021pau.1_Intron|GBA_uc010pfx.2_Nonsense_Mutation_p.R349*|GBA_uc010pfw.2_Nonsense_Mutation_p.R285*|GBA_uc001fjl.3_Nonsense_Mutation_p.R398*|GBA_uc001fjk.3_Nonsense_Mutation_p.R398*|GBA_uc010pfy.2_Nonsense_Mutation_p.R311*	NM_000157	NP_001165282	P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	398			R -> Q (in GD; mild).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TGCATCCCTCGATCCCAGGAG	0.572000									Gaucher disease type I					44			21		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3182247	3182248	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:3182247_3182248CC>TT	uc021xkv.1	+	35	4763_4764	c.4618_4619CC>TT	c.(4618-4620)ccg>TTg	p.P1540L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1540					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACAGCCATACCGGCTCTGCAG	0.421000														68			31		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54841879	54841879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:54841879C>T	uc021smr.1	+	25	5861	c.5861C>T	c.(5860-5862)tCc>tTc	p.S1954F	UNC13C_uc021sms.1_Missense_Mutation_p.S1956F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1956	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGACAATTATCCAAACTGAAG	0.348000														51			36		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54804141	54804141	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:54804141G>A	uc002qfd.3	-	1	126	c.34_splice	c.e1+1	p.G12_splice	LILRB3_uc002qew.2_Splice_Site_p.G12_splice|LILRB3_uc010erk.3_Splice_Site_p.G12_splice	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	12					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAATCTCACCGAGACAGATCA	0.587000														89			101		0	0	1	0	0
PTRH2	51651	broad.mit.edu	37	17	57774865	57774865	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:57774865G>A	uc002ixt.3	-	1	600	c.475C>T	c.(475-477)Cta>Tta	p.L159L	PTRH2_uc002ixs.3_Non-coding_Transcript	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), nuclear gene encoding mitochondrial protein, mRNA.	159					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCAATCCCTAGGACAGTTTGA	0.458000														50			39		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733041	152733041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:152733041G>A	uc001fal.1	+	1	1035	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	KPRP_uc021ozf.1_Missense_Mutation_p.R326Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	326	Pro-rich.					cytoplasm		p.R326Q(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAAGTGCCGAATCGAGATT	0.617000														64			26		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504864	18504864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:18504864G>A	uc003zne.4	+	1	253	c.101G>A	c.(100-102)gGc>gAc	p.G34D	ADAMTSL1_uc003znb.3_Missense_Mutation_p.G34D|ADAMTSL1_uc003znc.4_Missense_Mutation_p.G34D	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	34	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G34S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCGGGACGGCCTATGGGAT	0.587000														15			77		0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80750364	80750364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:80750364G>A	uc003pjc.3	+	20	2545	c.2434G>A	c.(2434-2436)Gtt>Att	p.V812I	TTK_uc003pjb.4_Missense_Mutation_p.V811I	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	812					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATGAAATATGTTCTGGGCCA	0.299000														35			21		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295535	62295535	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62295535G>A	uc001ntl.3	-	4	6654	c.6354C>T	c.(6352-6354)tcC>tcT	p.S2118S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2118					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCAGGCATGGAGATCTTGG	0.512000														229			175		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634218	70634218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:70634218C>T	uc001xly.3	-	1	1676	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E308K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E308K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E308K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	308					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCATCCACTTCCTTCCCTTCC	0.493000														28			29		0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94527378	94527379	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:94527378_94527379GG>AA	uc001ycj.3	-	3	1376_1377	c.1277_1278CC>TT	c.(1276-1278)tcc>tTT	p.S426F	DDX24_uc010twq.2_Missense_Mutation_p.S383F|DDX24_uc010twr.2_Missense_Mutation_p.S176F	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	426	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GTTTCTGCGTGGACATTCCACC	0.426000														22			90		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207787770	207787770	+	Silent	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:207787770T>C	uc001hfy.3	+	31	5387	c.5247T>C	c.(5245-5247)tcT>tcC	p.S1749S	CR1_uc001hfx.3_Silent_p.S2199S|CR1_uc021pij.1_Silent_p.S1749S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1749	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAGGCAGGTCTGCTAGTCATT	0.423000														87			7		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570315	248570315	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:248570315C>T	uc010pzm.2	+	0	1020	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTCATCTACAGCCTTAGAA	0.517000														82			99		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983995	97983995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:97983995G>A	uc003dsi.1	+	0	867	c.867G>A	c.(865-867)atG>atA	p.M289I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGATATGATGGAGTCTCTAT	0.403000														27			12		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24475372	24475372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:24475372C>T	uc003ned.1	-	4	529	c.418G>A	c.(418-420)Gga>Aga	p.G140R	GPLD1_uc010jpr.1_Silent_p.K11K|GPLD1_uc010jps.1_Missense_Mutation_p.G140R|GPLD1_uc003nee.3_Missense_Mutation_p.G140R	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	140						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTAAGGAATCCTTGTTCAAGG	0.463000														109			75		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123910972	123910972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:123910972C>T	uc004bkx.1	+	21	3513	c.3482C>T	c.(3481-3483)gCc>gTc	p.A1161V	CNTRL_uc004bky.1_Missense_Mutation_p.A765V|CNTRL_uc004bla.1_Missense_Mutation_p.A609V|CNTRL_uc010mvo.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1161					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGTTCCCAGGCCACCAAGGAC	0.478000														6			47		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45935913	45935913	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:45935913C>T	uc001jce.3	+	7	1116	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	ALOX5_uc009xmt.3_Silent_p.F339F|ALOX5_uc010qfg.2_Silent_p.F339F|ALOX5_uc021ppr.1_Silent_p.F339F	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	339	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ACCCTATTTTCCTCCCTTCGG	0.483000														51			50		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997029	62997029	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62997029G>A	uc001nwr.1	-	0	96	c.96C>T	c.(94-96)taC>taT	p.Y32Y	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.Y32Y	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	32					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GAGTTTGATGGTATACTATGA	0.463000														75			55		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151121946	151121946	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:151121946C>T	uc011eem.1	+	5	986	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	PLEKHG1_uc011eel.1_Silent_p.L281L|PLEKHG1_uc003qny.1_Silent_p.L241L|PLEKHG1_uc003qnz.2_Silent_p.L241L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	241					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTCGCTGCCTCTGGGGTCCTA	0.502000														43			69		0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9808452	9808452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:9808452C>T	uc002gme.1	-	0	233	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_002903	NP_002894	P35243	RECO_HUMAN	Homo sapiens recoverin (RCVRN), mRNA.	16					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						AGCTGCAGCTCCTCCAGGATC	0.622000														24			10		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3739121	3739121	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:3739121C>T	uc010xhv.2	+	11	1719	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P	TJP3_uc010xhs.2_Silent_p.P540P|TJP3_uc010xht.2_Silent_p.P504P|TJP3_uc010xhu.2_Silent_p.P549P|TJP3_uc010xhw.2_Silent_p.P559P	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	554						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATCATTCCCAACCAGAGCA	0.672000														130			117		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49430446	49430446	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:49430446G>A	uc001jgi.3	-	11	1696	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	FRMPD2_uc001jgh.3_Silent_p.I424I|FRMPD2_uc001jgj.3_Silent_p.I424I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	455	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTCCTCCAGGATATCTTTCC	0.512000														48			58		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28274109	28274109	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:28274109G>A	uc009xky.3	-	3	512	c.414C>T	c.(412-414)ggC>ggT	p.G138G	ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Silent_p.G138G	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	138							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TATAATCAGAGCCCAGGATTT	0.308000														4			6		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063677	170063677	+	Missense_Mutation	SNP	G	A	A	rs143884041	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:170063677G>A	uc002ues.3	-	38	6766	c.6553C>T	c.(6553-6555)Ctt>Ttt	p.L2185F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2185					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGACTTTAAGAAGAACACGG	0.418000														69			49		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64972383	64972383	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:64972383G>A	uc002ann.3	+	6	3770	c.3770_splice	c.e6-1	p.G1257_splice		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1257						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTTCCACAGGTTCCTACCT	0.517000														77			86		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694723	42694723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:42694723G>A	uc010ggo.3	+	6	1372	c.1332G>A	c.(1330-1332)atG>atA	p.M444I	TOX2_uc002xle.4_Missense_Mutation_p.M402I|TOX2_uc010ggp.3_Missense_Mutation_p.M402I|TOX2_uc002xlf.4_Missense_Mutation_p.M426I|TOX2_uc010zwk.2_Missense_Mutation_p.M322I	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	426	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTGGCGATGAGCCCCTCAC	0.662000														53			39		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377054	18377055	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:18377054_18377055GG>AA	uc010ebn.2	-	2	1511_1512	c.1295_1296CC>TT	c.(1294-1296)tcc>tTT	p.S432F	KIAA1683_uc002nin.2_Missense_Mutation_p.S432F|KIAA1683_uc010xqe.1_Missense_Mutation_p.S386F	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	432						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAGCCAGAAGGGAAACCTGAGG	0.609000														90			48		0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159162704	159162704	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:159162704G>A	uc003ipx.3	+	10	1366	c.846G>A	c.(844-846)tgG>tgA	p.W282*	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	282						integral to membrane		p.C281W(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CCTGCTGTTGGTTCATAGCAA	0.403000														170			72		0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269669	185269669	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:185269669C>A	uc001grl.3	-	10	1765	c.1142G>T	c.(1141-1143)tGt>tTt	p.C381F	IVNS1ABP_uc001gri.3_Missense_Mutation_p.C41F|IVNS1ABP_uc001grj.3_Missense_Mutation_p.C41F|IVNS1ABP_uc009wyj.3_Missense_Mutation_p.C163F|IVNS1ABP_uc009wyk.3_Non-coding_Transcript|IVNS1ABP_uc001grm.3_Missense_Mutation_p.C41F	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	381					RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGTTCGAAGACATTCCTCTCT	0.388000														74			27		2.75727e-19	2.80101e-19	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7696447	7696448	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:7696447_7696448CC>TT	uc002giu.1	+	46	7507_7508	c.7493_7494CC>TT	c.(7492-7494)ccc>cTT	p.P2498L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2498	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCAGCCACCCCTGGAGCTGA	0.515000														63			72		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622860	20622860	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:20622860G>A	uc001mqd.3	+	1	462	c.189G>A	c.(187-189)caG>caA	p.Q63Q	SLC6A5_uc009yic.3_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	63					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAACTTTCCAGTCAGCGGACG	0.731000														11			12		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139591700	139591700	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:139591700G>T	uc021zfy.1	-	3	745	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	194						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTTCTTTTTGAATTTGTACC	0.438000														17			34		2.09667e-21	2.13416e-21	1	1	0
TPP2	7174	broad.mit.edu	37	13	103309516	103309516	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:103309516T>A	uc001vpi.4	+	23	3166	c.3063T>A	c.(3061-3063)ttT>ttA	p.F1021L		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1021					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAAGAGTTTACTGAAGCAT	0.289000														47			29		0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823709	47823709	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:47823709C>T	uc002pgj.1	+	1	724	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	225					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACACTTTCATCCTGCTCCGGA	0.612000														167			127		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134623952	134623952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:134623952G>A	uc021qbc.1	-	56	7726	c.7625C>T	c.(7624-7626)tCt>tTt	p.S2542F		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	703										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTCTGAAGGAGACGCACTGTT	0.622000														71			51		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884600	228884600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:228884600G>A	uc002vpq.2	-	6	1017	c.970C>T	c.(970-972)Cat>Tat	p.H324Y	SPHKAP_uc002vpp.2_Missense_Mutation_p.H324Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.H324Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	324						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTTCTGAATGATAATAATGT	0.413000														102			100		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117714068	117714068	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:117714068G>A	uc004eqp.2	+	13	1584	c.1521G>A	c.(1519-1521)caG>caA	p.Q507Q	DOCK11_uc004eqq.2_Silent_p.Q273Q	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	507					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGACGGCCCAGAAGGTGCACA	0.463000														5			27		0	0	1	0	0
FAM116A	201627	broad.mit.edu	37	3	57614557	57614557	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:57614557A>C	uc003dja.3	-	18	1747	c.1676T>G	c.(1675-1677)tTg>tGg	p.L559W		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	559										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TTTCAGCTTCAAGACAAGGTC	0.358000														171			10		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493444	60493444	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:60493444C>T	uc010wpc.2	+	11	1298	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	EFCAB3_uc002izu.2_Silent_p.I357I	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	357							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GGCAGAAGATCCGAGGGGATT	0.423000														78			24		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182396419	182396419	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:182396419C>T	uc002unu.3	+	24	3463	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F	ITGA4_uc002unv.3_Silent_p.F145F	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	900					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.F900L(4)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTTTAAATTTCTTGTGTAATT	0.308000														50			37		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	420825	420826	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:420825_420826GA>AT	uc001lpi.2	-	17	1610_1611	c.1525_1526TC>AT	c.(1525-1527)tcc>ATc	p.S509I	ANO9_uc001lph.2_Missense_Mutation_p.S202I|ANO9_uc010qvv.1_Missense_Mutation_p.S365I	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	509						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCCGGACTCGGAGGCCCGCAGA	0.713000														21			11		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39798475	39798475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:39798475C>T	uc021olw.1	+	0	1535	c.1535C>T	c.(1534-1536)tCt>tTt	p.S512F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2077					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)			ACAGAAGATTCTTCTGTAGAG	0.373000														24			20		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651051	96651051	+	Missense_Mutation	SNP	G	A	A	rs146406553		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:96651051G>A	uc003pop.4	+	2	361	c.20G>A	c.(19-21)gGa>gAa	p.G7E	FUT9_uc021zcw.1_Missense_Mutation_p.G7E	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	7					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.G7E(4)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACATCCAAAGGAATTCTTCGC	0.388000														55			56		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176721950	176721950	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:176721950G>A	uc003mfr.4	+	22	7719	c.7581G>A	c.(7579-7581)tgG>tgA	p.W2527*	NSD1_uc003mft.4_Nonsense_Mutation_p.W2258*|NSD1_uc011dfx.2_Nonsense_Mutation_p.W2175*|NSD1_uc021yip.1_Nonsense_Mutation_p.W351*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2527					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGGACCCCTGGCAAGCTGTTA	0.532000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				175			44		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243965	56243965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:56243965G>A	uc002qly.3	-	1	1260	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	411	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATCCCCATGGGAAAATACAAA	0.498000														106			62		0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2833848	2833848	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:2833848C>T	uc002lwm.2	+	4	813	c.615C>T	c.(613-615)tcC>tcT	p.S205S	ZNF554_uc002lwl.2_Silent_p.S154S	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAGGCATCCCTTCACGTAG	0.493000														138			34		0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42852511	42852511	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:42852511T>C	uc010gor.3	-	5	636	c.575A>G	c.(574-576)aAc>aGc	p.N192S	TMPRSS2_uc002yzj.3_Missense_Mutation_p.N155S|TMPRSS2_uc010gos.1_Missense_Mutation_p.N155S	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	155	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AAGGATGAAGTTTGGTCCGTA	0.517000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									42			24		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785286	12785286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:12785286G>A	uc009vnn.1	+	3	609	c.376G>A	c.(376-378)Gat>Aat	p.D126N	AADACL3_uc001aug.1_Missense_Mutation_p.D56N	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	126							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATATGGAGTGGATCCAGCCCG	0.547000														100			28		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752382	36752382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:36752382C>T	uc001cae.4	+	3	775	c.551C>T	c.(550-552)tCt>tTt	p.S184F	THRAP3_uc001caf.4_Missense_Mutation_p.S184F|THRAP3_uc001cag.1_Missense_Mutation_p.S184F	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	184	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGTCCTCTTCTAAGGATAGC	0.527000			T	USP6	aneurysmal bone cysts									199			65		0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123718	135123718	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:135123718C>T	uc021qbf.1	+	2	327	c.285C>T	c.(283-285)gaC>gaT	p.D95D	TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc001lmh.1_Intron|ZNF511_uc001lmj.1_Silent_p.D160D|ZNF511_uc001lml.1_Silent_p.D160D	NM_145806	NP_665805	Q8NB15	ZN511_HUMAN	Homo sapiens zinc finger protein 511 (ZNF511), mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CCAGCAGAGACCGGAAGGATC	0.572000														82			96		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052274	90052274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:90052274G>A	uc003kju.3	+	55	11680	c.11584G>A	c.(11584-11586)Gac>Aac	p.D3862N	GPR98_uc003kjt.3_Missense_Mutation_p.D1568N|GPR98_uc003kjv.3_Missense_Mutation_p.D1462N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3862	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCCCAGGATGACCTTCCTGA	0.413000														108			93		0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26877926	26877926	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:26877926C>T	uc001bmr.1	+	4	509	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	RPS6KA1_uc010ofe.1_Silent_p.L24L|RPS6KA1_uc010off.1_Silent_p.L100L|RPS6KA1_uc001bms.1_Silent_p.L125L|RPS6KA1_uc009vsl.1_5'UTR	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	116	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GAGAGACATCCTGGCTGATGT	0.567000														129			35		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142250815	142250815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142250815C>T	uc011ksf.2	-	1	247	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TCAGGGACTTCTCCTTTGCCA	0.473000														42			20		0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156263217	156263217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156263217G>A	uc001foh.3	-	4	962	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	317					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					CGGACAATGGGTGACTGGGGA	0.572000														40			44		0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44336148	44336148	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:44336148A>G	uc021yzz.1	+	5	708	c.607A>G	c.(607-609)Act>Gct	p.T203A	TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Missense_Mutation_p.T88A|SPATS1_uc003oxk.3_Missense_Mutation_p.T203A	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	203										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCAAAGTTAACTCCAGGCGA	0.403000														83			55		0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1360579	1360579	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:1360579A>G	uc002lrz.2	+	4	772	c.662A>G	c.(661-663)aAc>aGc	p.N221S	MUM1_uc010dsi.2_Missense_Mutation_p.N152S|MUM1_uc002lsb.2_Missense_Mutation_p.N152S|MUM1_uc010xgm.1_Missense_Mutation_p.N220S|MUM1_uc002lsc.1_Missense_Mutation_p.N152S	NM_032853	NP_116242	Q2TAK8	MUM1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA.	220					DNA repair|chromatin organization	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		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;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGAGGAAACTCAGCGCAG	0.572000														105			22		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2090052	2090052	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:2090052C>T	uc002fub.1	-	11	3115	c.3060G>A	c.(3058-3060)aaG>aaA	p.K1020K	SMG6_uc010vqv.1_Silent_p.K112K|SMG6_uc002fud.2_Silent_p.K989K	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	1020					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGAGCAGCTCCTTCAGGTCCG	0.582000														44			15		0	0	1	0	0
IL13RA1	3597	broad.mit.edu	37	X	117892165	117892165	+	Silent	SNP	A	G	G	rs142695639		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:117892165A>G	uc004eqs.3	+	4	679	c.636A>G	c.(634-636)aaA>aaG	p.K212K	IL13RA1_uc004eqr.1_Silent_p.K212K	NM_001560	NP_001551	P78552	I13R1_HUMAN	Homo sapiens interleukin 13 receptor, alpha 1 (IL13RA1), mRNA.	212						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ATGCAGGAAAAATTAAACCAT	0.358000														78			15		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18343095	18343095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:18343095C>T	uc004cyl.2	-	3	251	c.94G>A	c.(94-96)Gat>Aat	p.D32N	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.D32N|SCML2_uc011miz.1_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	32					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.D31D(2)|p.D31H(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CAGTGGAAATCATCTGGAAAA	0.363000														3			58		0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765303	19765303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:19765303G>A	uc011jyg.2	-	2	378	c.293C>T	c.(292-294)tCc>tTc	p.S98F	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	104						integral to membrane		p.L98L(2)|p.Q97K(1)		breast(1)|large_intestine(1)|lung(4)	6						GTATAGGGAGGAAGTTTTCTT	0.502000														28			22		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27233234	27233234	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:27233234C>T	uc002hdg.1	-	14	3512	c.2982G>A	c.(2980-2982)caG>caA	p.Q994Q	PHF12_uc010wbb.1_Silent_p.Q976Q	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	994					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCACAGGGCCCTGGTGGGGCT	0.587000														49			24		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721205	160721205	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:160721205C>T	uc003lys.1	-	10	1640	c.1422G>A	c.(1420-1422)ctG>ctA	p.L474L	GABRB2_uc011deh.1_Silent_p.L275L|GABRB2_uc003lyr.1_Silent_p.L436L|GABRB2_uc003lyt.1_Silent_p.L436L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	474					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGTGATTTTCAGTTGGGAGG	0.502000														7			38		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542902	55542902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:55542902G>A	uc003xsd.1	+	3	6608	c.6460G>A	c.(6460-6462)Gaa>Aaa	p.E2154K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2154					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E2154K(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGAGAACAAGAAGATTTATA	0.313000														15			14		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616437	248616437	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:248616437C>T	uc001iek.1	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGGGAATTCTTCCTGCTGG	0.542000														142			32		0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67208889	67208890	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:67208889_67208890CA>AG	uc001oll.2	-	5	683_684	c.550_551TG>CT	c.(550-552)tgg>CTg	p.W184L	CORO1B_uc001olk.1_Missense_Mutation_p.W184L|CORO1B_uc009yrt.1_Non-coding_Transcript|CORO1B_uc010rps.1_Missense_Mutation_p.W184L|CORO1B_uc009yrv.1_3'UTR	NM_001018070	NP_065174	Q9BR76	COR1B_HUMAN	Homo sapiens coronin, actin binding protein, 1B (CORO1B), transcript variant 2, mRNA.	184					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATTGTGGTTCCAGCTGACATTG	0.604000														112			83		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109381664	109381664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:109381664G>A	uc002tem.4	+	19	4795	c.4669G>A	c.(4669-4671)Gaa>Aaa	p.E1557K		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1557					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGTGCGAAATGAAGCAAATGC	0.408000														139			104		0	0	1	0	0
PTGR2	145482	broad.mit.edu	37	14	74345864	74345864	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:74345864C>T	uc001xow.3	+	5	745	c.585C>T	c.(583-585)ctC>ctT	p.L195L	PTGR2_uc010tue.2_Silent_p.L195L|PTGR2_uc001xox.3_Silent_p.L195L|ZNF410_uc001xoy.2_Intron	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN	Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.	195					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						AATGCATCCTCTTGACCTCAG	0.413000														52			88		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215953204	215953204	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:215953204C>T	uc001hku.1	-	54	11307	c.10920G>A	c.(10918-10920)agG>agA	p.R3640R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3640	Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R3640S(2)		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)		TATGCTGTCTCCTGTCAGTGG	0.493000										HNSCC(13;0.011)				46			19		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564117	176564117	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:176564117C>T	uc001gkz.3	+	2	2541	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	PAPPA2_uc001gky.1_Silent_p.S459S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	459	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S459I(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGACAGCGAGCTTTGAGCCTG	0.537000														69			78		0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26383786	26383786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:26383786C>T	uc001bli.1	-	6	1023	c.887G>A	c.(886-888)gGg>gAg	p.G296E		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	Homo sapiens tripartite motif containing 63 (TRIM63), mRNA.	296	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGTCTTCCCCAGCTGGCA	0.537000														82			25		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27480641	27480641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:27480641G>A	uc001bnm.3	-	0	811	c.185C>T	c.(184-186)aCc>aTc	p.T62I	SLC9A1_uc010ofk.2_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.T62I	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	62					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CGGTGGAGCGGTGGTGACATC	0.607000														165			66		0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789236	48789236	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:48789236C>A	uc002pil.1	+	5	852	c.355C>A	c.(355-357)Cct>Act	p.P119T	ZNF114_uc010elv.1_Missense_Mutation_p.P119T|ZNF114_uc002pim.1_Missense_Mutation_p.P119T|ZNF114_uc002pin.2_Missense_Mutation_p.P85T	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AGATGAATCTCCTGTTAGCAT	0.463000														76			63		6.88731e-43	7.07134e-43	1	1	0
MYO16	23026	broad.mit.edu	37	13	109777484	109777484	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:109777484A>T	uc010agk.2	+	29	4182	c.3560A>T	c.(3559-3561)cAg>cTg	p.Q1187L	MYO16_uc001vqt.1_Missense_Mutation_p.Q1165L|MYO16_uc010tjh.1_Missense_Mutation_p.Q677L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1165					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTAGCACGCCAGCACCTGCTT	0.403000														60			7		0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235335940	235335940	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:235335940C>T	uc021pks.1	-	22	4181	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	ARID4B_uc001hwq.3_Silent_p.E1268E|ARID4B_uc001hwr.3_Silent_p.E1182E|RBM34_uc001hwp.3_Non-coding_Transcript	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	1268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACTTTCTCTCTCTTTCTTCT	0.338000														5			10		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45946486	45946486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:45946486C>T	uc010gzz.3	+	14	1949	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F	FBLN1_uc003bgg.1_Missense_Mutation_p.S563F|FBLN1_uc003bgh.3_Missense_Mutation_p.S563F|FBLN1_uc003bgi.1_Missense_Mutation_p.S563F|FBLN1_uc003bgj.1_Missense_Mutation_p.S563F	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	563					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACCGCCGCTCCGCAGCCACG	0.612000														123			37		0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27549689	27549689	+	Silent	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:27549689G>T	uc002rju.1	-	18	3019	c.2622C>A	c.(2620-2622)atC>atA	p.I874I	MPV17_uc002rjt.3_5'Flank|GTF3C2_uc010eyy.1_Silent_p.I318I|GTF3C2_uc002rjv.1_Silent_p.I863I|GTF3C2_uc002rjw.1_Silent_p.I863I	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	863						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACAAAATGGATTCGAACCA	0.547000														80			67		4.05715e-38	4.15169e-38	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	125834809	125834809	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:125834809G>A	uc001uhe.1	+	1	872	c.864G>A	c.(862-864)ctG>ctA	p.L288L	TMEM132B_uc021rgl.1_Silent_p.L178L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	288						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CGGTACCTCTGAATCTAGTCC	0.547000														163			247		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678354	25678354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:25678354G>A	uc003grr.3	+	12	2137	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	SLC34A2_uc003grs.3_Missense_Mutation_p.E685K|SLC34A2_uc010iev.3_Missense_Mutation_p.E685K	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	686					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTCAAAGACCGAATGCACGGC	0.572000			T	ROS1	NSCLC									117			40		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725413	26725413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:26725413C>T	uc001mra.2	-	4	920	c.607G>A	c.(607-609)Gga>Aga	p.G203R	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.G203R	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	203					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.G203R(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGAGTTGATCCTTGAATGAGA	0.393000														107			93		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31038981	31038981	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:31038981C>T	uc002nsu.1	+	3	2593	c.2455C>T	c.(2455-2457)Caa>Taa	p.Q819*	ZNF536_uc010edd.1_Nonsense_Mutation_p.Q819*	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCCAAATCAAGACCACAA	0.567000														108			69		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060904	9060904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9060904C>T	uc002mkp.3	-	2	26746	c.26542G>A	c.(26542-26544)Gaa>Aaa	p.E8848K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8850	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V8847L(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						CTAGTTTTTTCCACTGATGGG	0.512000														98			78		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624215	32624215	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:32624215G>A	uc002yow.1	-	5	1726	c.1254C>T	c.(1252-1254)agC>agT	p.S418S	TIAM1_uc011adk.1_Silent_p.S418S|TIAM1_uc011adl.1_Silent_p.S418S|TIAM1_uc002yox.1_Silent_p.S26S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	418					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGCCCGGAGAGCTCAGGGTGC	0.667000														75			80		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54439943	54439943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:54439943G>A	uc003hag.4	-	1	483	c.227C>T	c.(226-228)cCc>cTc	p.P76L	PDGFRA_uc003haa.3_Intron|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	76						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCGGTCCATGGGACAGAAGTC	0.572000														22			13		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48801704	48801704	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:48801704A>T	uc003xqi.3	-	33	4205	c.4148T>A	c.(4147-4149)tTc>tAc	p.F1383Y	PRKDC_uc003xqj.3_Missense_Mutation_p.F1383Y	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1384					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCCGATGTTGAAACCTATGCT	0.453000								Non-homologous end-joining						27			45		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489678	65489678	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:65489678C>T	uc002aon.2	-	8	3127	c.2946G>A	c.(2944-2946)ggG>ggA	p.G982G		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	982					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATACAGCTTCCCCACTGTCT	0.557000														99			75		0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227947039	227947039	+	Missense_Mutation	SNP	C	T	T	rs143073539		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:227947039C>T	uc001hrf.2	+	2	1390	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	SNAP47_uc001hra.2_Missense_Mutation_p.R84C|SNAP47_uc001hrd.3_Missense_Mutation_p.R326C|SNAP47_uc001hre.3_Missense_Mutation_p.R84C	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	326						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATGGCCTATCGTTTGATATC	0.478000														101			49		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29628691	29628691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:29628691G>A	uc003cel.3	+	3	764	c.394G>A	c.(394-396)Gct>Act	p.A132T	RBMS3_uc010hfq.3_Missense_Mutation_p.A132T|RBMS3_uc003cek.3_Missense_Mutation_p.A132T|RBMS3_uc010hfr.3_Missense_Mutation_p.A132T|RBMS3_uc003cem.3_Missense_Mutation_p.A131T	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	132	RRM 1.					cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GGCACAGATGGCTAAGGTAAG	0.423000														45			31		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394591	233394591	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:233394591C>T	uc001hvl.2	-	4	1252	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	339						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGCAGGTCCCCCTGGCAGG	0.567000														79			51		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30676073	30676073	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:30676073C>T	uc003nrg.4	-	7	2723	c.2283G>A	c.(2281-2283)gaG>gaA	p.E761E	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	761				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTCAGAGTCCTCAGACTCTC	0.562000								Other conserved DNA damage response genes						50			33		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70178196	70178196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:70178196C>T	uc001opo.3	+	8	1423	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	PPFIA1_uc001opn.2_Missense_Mutation_p.S403F|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	403					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCAGCGCTTTCCAAGGTAGTG	0.567000														127			108		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550948	169550948	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:169550948A>G	uc003fgb.3	+	3	1507	c.1507A>G	c.(1507-1509)Aac>Gac	p.N503D		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	503										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGAAAACAGAAACAGGAATAT	0.413000														13			11		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83636188	83636188	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:83636188A>C	uc010vns.2	+	8	1495	c.1231A>C	c.(1231-1233)Acc>Ccc	p.T411P	CDH13_uc002fgx.3_Missense_Mutation_p.T364P|CDH13_uc010vnt.2_Missense_Mutation_p.T110P|CDH13_uc010vnu.2_Missense_Mutation_p.T325P	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	364	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACCAAAATTCACCAAGAAAGA	0.473000														18			83		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119962576	119962576	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:119962576G>A	uc011bjf.2	-	1	524	c.144C>T	c.(142-144)gtC>gtT	p.V48V	GPR156_uc011bjg.2_Silent_p.V48V	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	48						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TACCCAAGAGGACAGGAGATA	0.443000														27			37		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938722	2938722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:2938722G>A	uc001ajz.3	+	0	677	c.472G>A	c.(472-474)Gac>Aac	p.D158N		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	158						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCTGGTGGTGGACAGCGGGGA	0.632000														122			40		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91136933	91136933	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:91136933C>T	uc002bpp.3	+	2	403	c.297C>T	c.(295-297)tcC>tcT	p.S99S	CRTC3_uc002bpn.3_Intron|CRTC3_uc002bpo.3_Silent_p.S99S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	99	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGAGGCCATCCAGGAACCGCT	0.537000			T	MAML2	salivary gland mucoepidermoid									88			61		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139889280	139889280	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:139889280T>C	uc003lfs.2	+	20	3978	c.3824T>C	c.(3823-3825)gTt>gCt	p.V1275A	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.V1294A|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.V1275A|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.V486A|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.V755A|ANKHD1-EIF4EBP3_uc003lfv.1_Missense_Mutation_p.V352A|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.V14A|ANKHD1-EIF4EBP3_uc003lfw.3_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1275						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGAAGAGTTCTTCTTGAT	0.413000														6			46		0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8402739	8402739	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:8402739C>T	uc010dwa.3	-	2	39	c.-27_splice	c.e2-1			NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.											breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GTCAGAGGCACCCTGCAAAAG	0.577000														69			41		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106526678	106526678	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:106526678T>G	uc003vdv.4	+	9	3056	c.2971T>G	c.(2971-2973)Ttc>Gtc	p.F991V	PIK3CG_uc003vdu.3_Missense_Mutation_p.F991V|PIK3CG_uc003vdw.3_Missense_Mutation_p.F991V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	991	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AACCCCTGACTTCCTCTTTGT	0.438000														42			15		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473497	56473497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:56473497G>A	uc002qmh.3	+	3	2178	c.2107G>A	c.(2107-2109)Gat>Aat	p.D703N	NLRP8_uc010etg.3_Missense_Mutation_p.D703N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	703						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGCAACGAATGATAAGCTGGA	0.512000														115			67		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682600	140682600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140682600G>A	uc003ljf.3	-	0	1013	c.833C>T	c.(832-834)cCt>cTt	p.P278L		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	278					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCCATTGGCAGGGATTGCTCG	0.438000														6			39		0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909270	909270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:909270G>A	uc001ace.3	+	12	1683	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M	PLEKHN1_uc001acd.3_Missense_Mutation_p.V498M|PLEKHN1_uc001acf.3_Missense_Mutation_p.V463M	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	550										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACTCCCCTCGGTGCCTGTGTC	0.697000														102			34		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660215	77660215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:77660215G>A	uc011cbx.2	+	4	1842	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SHROOM3_uc011cbz.1_Missense_Mutation_p.E121K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E172K|SHROOM3_uc003hkg.3_Missense_Mutation_p.E75K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	297					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGCCTCCTCGAAGGGATGAG	0.557000														71			40		0	0	1	0	0
CTAGE15P	441294	broad.mit.edu	37	7	143268938	143268938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:143268938C>T	uc011kth.2	+	0	49	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S		NM_001008747	NP_001008747	A4D2H0	A4D2H0_HUMAN	Homo sapiens CTAGE family, member 15, pseudogene (CTAGE15P), mRNA.	10																	TACCCCTCAGCCCTACCTGGG	0.587000														25			25		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61865687	61865687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:61865687C>T	uc001jky.3	-	27	3642	c.3304G>A	c.(3304-3306)Gag>Aag	p.E1102K	ANK3_uc001jkw.3_Missense_Mutation_p.E236K|ANK3_uc009xpa.3_Missense_Mutation_p.E236K|ANK3_uc001jkx.3_Missense_Mutation_p.E280K|ANK3_uc010qih.2_Missense_Mutation_p.E1103K|ANK3_uc001jkz.4_Missense_Mutation_p.E1096K|ANK3_uc001jla.1_Missense_Mutation_p.E168K|ANK3_uc001jlb.1_Missense_Mutation_p.E620K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1102					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						TTAAGTAACTCGGTTAAATCT	0.383000														24			32		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836116	247836116	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247836116C>T	uc001idi.1	-	0	228	c.228G>A	c.(226-228)ccG>ccA	p.P76P		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCAGCATCTTCGGTATGATGC	0.458000														24			14		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981663	40981663	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:40981663G>A	uc003jmh.3	+	17	2634	c.2520G>A	c.(2518-2520)gcG>gcA	p.A840A		NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	840	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTTGTGCTGCGGAAACCCAGT	0.587000														13			8		0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99057785	99057785	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:99057785G>A	uc011kiw.2	-	1	105	c.45C>T	c.(43-45)gtC>gtT	p.V15V	ATP5J2-PTCD1_uc003uqm.3_Silent_p.V21V|ATP5J2-PTCD1_uc003uql.3_Silent_p.V15V|ATP5J2-PTCD1_uc003uqo.3_Silent_p.V21V|ATP5J2-PTCD1_uc003uqn.3_Silent_p.V15V	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	15																	CCCCCAGTTTGACCTCCAGAA	0.473000														219			103		0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864607	22864607	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:22864607C>T	uc003xcp.2	+	6	1198	c.915C>T	c.(913-915)atC>atT	p.I305I	RHOBTB2_uc011kzp.1_Silent_p.I290I|RHOBTB2_uc003xcq.2_Silent_p.I283I|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	283	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCCACAAGATCTACCTCTCCA	0.662000														133			147		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108509645	108509645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:108509645G>A	uc003ymn.3	-	0	610	c.142C>T	c.(142-144)Cca>Tca	p.P48S	ANGPT1_uc003ymo.3_Missense_Mutation_p.P48S	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	48					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCGTGTTCTGGAAGAATGAAA	0.498000														70			26		0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605181	142605181	+	Silent	SNP	C	T	T	rs148202641		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:142605181C>T	uc004fbw.3	-	0	127	c.39G>A	c.(37-39)acG>acA	p.T13T		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	13								p.T13A(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCTCTTCGTCTTCTCCC	0.458000														11			91		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26698339	26698339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:26698339G>A	uc002rhk.3	-	24	3141	c.3014C>T	c.(3013-3015)cCc>cTc	p.P1005L	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Missense_Mutation_p.P258L|OTOF_uc002rhi.3_Missense_Mutation_p.P315L|OTOF_uc002rhj.3_Missense_Mutation_p.P258L	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1005	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCCAGGTGGGACACAGGGT	0.557000														116			76		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23625189	23625189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:23625189G>A	uc003swk.2	-	0	958	c.308C>T	c.(307-309)gCc>gTc	p.A103V						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		GTCAAAGGTGGCACTGCCAAA	0.517000														42			29		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34085940	34085940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:34085940G>A	uc011kap.2	+	7	973	c.599G>A	c.(598-600)aGa>aAa	p.R200K		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	200	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAATGTGTGAGAGAAGTCTGT	0.423000														61			84		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74632090	74632090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:74632090G>A	uc002axt.2	-	5	1150	c.995C>T	c.(994-996)tCc>tTc	p.S332F	CYP11A1_uc002axs.2_Missense_Mutation_p.S174F|CYP11A1_uc010bjm.1_Missense_Mutation_p.S174F|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Missense_Mutation_p.S112F	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	332					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CAGGGTCATGGACGTCTGGTG	0.582000														74			44		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894440	151894440	+	Silent	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:151894440T>A	uc003qol.3	+	5	995	c.906T>A	c.(904-906)tcT>tcA	p.S302S		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	302																	AGAAAAGCTCTTCTGAGTTGG	0.498000														52			28		0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47454229	47454229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:47454229C>T	uc003crf.1	+	24	4561	c.4465C>T	c.(4465-4467)Ctc>Ttc	p.L1489F	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.L1359F|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1489					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACCTGGTCCTCGGTGGGGA	0.627000														119			108		0	0	1	0	0
ZNF498	221785	broad.mit.edu	37	7	99218999	99218999	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:99218999C>G	uc003url.1	+	4	718	c.391C>G	c.(391-393)Cca>Gca	p.P131A	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.3_Non-coding_Transcript|ZNF498_uc010lgf.1_Missense_Mutation_p.P131A|ZNF498_uc003uro.1_5'UTR	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	131					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TTCTTAGGTTCCATGCCACAG	0.522000														116			50		0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2458006	2458006	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:2458006G>A	uc001ajm.1	-	0	30	c.21C>T	c.(19-21)agC>agT	p.S7S	PANK4_uc010nza.1_Silent_p.S7S	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	7					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCCGCTGCCGCTCGCTCCAC	0.592000														184			56		0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39659657	39659657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:39659657G>A	uc002hwu.1	-	2	680	c.617C>T	c.(616-618)gCc>gTc	p.A206V	KRT13_uc002hwv.1_Missense_Mutation_p.A206V|KRT13_uc010wfr.2_Missense_Mutation_p.A99V|KRT13_uc010cxo.3_Missense_Mutation_p.A206V|KRT13_uc021txk.1_Missense_Mutation_p.A99V	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	206	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GTTGATGTCGGCCTCCACGCT	0.468000														83			35		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639138	179639138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179639138C>T	uc021vsy.1	-	29	7078	c.6853G>A	c.(6853-6855)Gaa>Aaa	p.E2285K	TTN_uc021vsz.1_Missense_Mutation_p.E2239K|TTN_uc021vta.1_Missense_Mutation_p.E2239K|TTN_uc021vtb.1_Missense_Mutation_p.E2239K|TTN_uc002unb.2_Missense_Mutation_p.E2285K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2285	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCTAATTCTCCTGAATAT	0.343000														45			22		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														22			19		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153965405	153965405	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:153965405A>G	uc001fdw.3	-	39	5645	c.5573T>C	c.(5572-5574)tTt>tCt	p.F1858S	NUP210L_uc009woq.3_Missense_Mutation_p.F767S|NUP210L_uc010peh.2_Missense_Mutation_p.F1706S	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1858				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345).		integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTGGAGTTAAAAAAACCTAG	0.438000														78			90		0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80422298	80422298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:80422298C>T	uc010dit.3	+	2	384	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	NARF_uc002kff.4_Missense_Mutation_p.L23F|NARF_uc010wvo.1_Missense_Mutation_p.L82F|NARF_uc010wvp.1_5'UTR|NARF_uc002kfg.4_Missense_Mutation_p.L82F|NARF_uc002kfj.4_Intron	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA.	82						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGTTCTGAACCTTAACAAGGT	0.542000														45			42		0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75585546	75585546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:75585546G>A	uc001xrl.3	-	4	771	c.617C>T	c.(616-618)tCc>tTc	p.S206F	NEK9_uc001xrk.3_5'Flank	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	206	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CTCAGCCATGGAATACTCAGA	0.328000														6			33		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143798171	143798171	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:143798171A>C	uc010fnm.3	+	13	1432	c.1216A>C	c.(1216-1218)Aca>Cca	p.T406P	KYNU_uc002tvl.3_Missense_Mutation_p.T406P	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	406					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GCTAACAATAACATTTTCTGT	0.413000														25			20		0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	171009587	171009587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:171009587C>T	uc003isr.3	-	1	538	c.196G>A	c.(196-198)Gag>Aag	p.E66K	AADAT_uc003iss.3_Missense_Mutation_p.E66K|AADAT_uc003ist.3_Missense_Mutation_p.E70K	NM_016228	NP_872603	Q8N5Z0	AADAT_HUMAN	Homo sapiens aminoadipate aminotransferase (AADAT), transcript variant 1, mRNA.	66					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTCATCATCTCTTCTCCAAAT	0.373000														63			56		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30632944	30632944	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:30632944G>A	uc003nqz.3	-	5	1241	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	DHX16_uc011dmo.2_Silent_p.A283A	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	343					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CAGCATCTCGGGCCCCAAACT	0.627000														28			18		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738697	8738697	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:8738697G>A	uc002glq.1	-	7	778	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	180					platelet activation	cytosol											TGCTGCGCCTGGGCCGCCTCG	0.647000														28			18		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455278	84455278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:84455278C>T	uc001vlk.3	-	0	1251	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	122						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTCTGCTTTCGAAAAGACTT	0.468000														76			69		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146214476	146214476	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:146214476G>A	uc003qlf.3	-	27	5148	c.4749C>T	c.(4747-4749)ccC>ccT	p.P1583P	SHPRH_uc003qle.3_Silent_p.P1587P	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1583	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTGTGCAGGGGCAGCAGCA	0.403000														15			3		0	0	1	0	0
CYS1	192668	broad.mit.edu	37	2	10198994	10198994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:10198994C>T	uc002rag.2	-	2	651	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_001037160	NP_001032237	Q717R9	CYS1_HUMAN	Homo sapiens cystin 1 (CYS1), mRNA.	155						cilium axoneme				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		CGGCAGTACTCCCGCTCGATG	0.677000														16			14		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62021184	62021184	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:62021184C>T	uc002jds.1	-	21	4016	c.3939G>A	c.(3937-3939)acG>acA	p.T1313T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1313			T -> M (in PMC).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1313M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTGTTCCTCCGTCATAAAGA	0.552000														53			20		0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98250982	98250982	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:98250982C>T	uc011bgy.2	+	0	105	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	35						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CCTCTGTCTTCCTTCCAGTCT	0.488000														53			15		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672022	30672023	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:30672022_30672023AG>TA	uc003nrg.4	-	9	5377_5378	c.4937_4938CT>TA	c.(4936-4938)tct>tTA	p.S1646L	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1253L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1646					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GAGTCTTGACAGAGGACCTATT	0.579000								Other conserved DNA damage response genes						142			102		0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91523621	91523621	+	Splice_Site	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:91523621T>G	uc002bqm.3	-	7	980	c.823_splice	c.e7-1	p.L275_splice	PRC1_uc002bqn.3_Splice_Site_p.L275_splice|PRC1_uc002bqo.3_Splice_Site_p.L275_splice|PRC1_uc010uqs.2_Splice_Site_p.L234_splice	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	275	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TAATTGCAGCTGAAAGAAAGA	0.408000														68			43		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	C	C	rs79807294	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:71347185T>C	uc011cat.2	+	3	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_uc011cau.2_Missense_Mutation_p.S242P|MUC7_uc003hfj.3_Missense_Mutation_p.S242P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000														296			5		0	0	1	0	0
ZFAND5	7763	broad.mit.edu	37	9	74971949	74971949	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:74971949C>G	uc010moy.1	-	4	672	c.391G>C	c.(391-393)Gtt>Ctt	p.V131L	ZFAND5_uc010mox.1_Missense_Mutation_p.V28L|ZFAND5_uc004aix.2_Missense_Mutation_p.V131L|ZFAND5_uc004aiw.2_Missense_Mutation_p.V131L|ZFAND5_uc004aiy.2_Missense_Mutation_p.V131L	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	Homo sapiens zinc finger, AN1-type domain 5 (ZFAND5), transcript variant c, mRNA.	131							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GGCTGAGAAACTGATGGACTG	0.378000														39			4		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885601	29885601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:29885601G>A	uc003afo.3	+	3	2043	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	664	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						CCCAGAGAAGGAAGAGGCCAA	0.562000														71			23		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97098520	97098520	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:97098520G>A	uc021rcc.1	+	14	1828	c.1750_splice	c.e14-1	p.I584_splice				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	584										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TATTTTGACAGATCTTTCAAT	0.244000														3			13		0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71158464	71158464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:71158464C>T	uc001jpl.4	+	16	2590	c.2489C>T	c.(2488-2490)gCc>gTc	p.A830V	HK1_uc001jpg.4_Missense_Mutation_p.A818V|HK1_uc001jph.4_Missense_Mutation_p.A834V|HK1_uc001jpi.4_Missense_Mutation_p.A834V|HK1_uc001jpj.4_Missense_Mutation_p.A865V|HK1_uc001jpk.4_Missense_Mutation_p.A829V	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	830	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCCAGGAGGGCCGCACAGCTG	0.602000														60			31		0	0	1	0	0
LSM10	84967	broad.mit.edu	37	1	36859378	36859378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:36859378G>A	uc001cao.1	-	1	503	c.353C>T	c.(352-354)cCc>cTc	p.P118L	LSM10_uc021olj.1_Missense_Mutation_p.P118L	NM_032881	NP_116270	Q969L4	LSM10_HUMAN	Homo sapiens LSM10, U7 small nuclear RNA associated (LSM10), mRNA.	118					RNA splicing|S phase of mitotic cell cycle|histone mRNA metabolic process|mRNA processing|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				GTTTTTTGGGGGAAATTCCCA	0.577000														148			36		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821040	206821040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:206821040C>T	uc001hej.3	+	2	665	c.497C>T	c.(496-498)cCa>cTa	p.P166L	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.P146L	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	166					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATTAATTATCCAGAAATTTAC	0.423000														79			44		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129486	149129486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:149129486G>A	uc003wfv.3	-	5	2040	c.1877C>T	c.(1876-1878)tCt>tTt	p.S626F		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCGCTACCAGAGCTGGGTGA	0.667000														205			91		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140752194	140752194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140752194G>A	uc003ljw.2	+	0	2233	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K	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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.E745K|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	761					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			CACCTACAGCGAAAGGACTTT	0.512000														4			51		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33330872	33330872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:33330872G>A	uc002xav.3	-	11	5759	c.3188C>T	c.(3187-3189)cCc>cTc	p.P1063L	NCOA6_uc002xaw.3_Missense_Mutation_p.P1063L|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P1063L|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1063	NCOA1-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.P1063L(2)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGGAGTCGGGGTTCAGGGG	0.527000														225			158		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671801	125671801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:125671801C>T	uc010flu.3	+	23	4224	c.3860C>T	c.(3859-3861)tCc>tTc	p.S1287F	CNTNAP5_uc002tno.3_Missense_Mutation_p.S1286F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1286					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGGACAGTTCCTTCAGAAAT	0.428000														36			23		0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99358907	99358907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:99358907G>A	uc001kny.3	+	2	761	c.402G>A	c.(400-402)atG>atA	p.M134I	PI4K2A_uc001knx.2_Missense_Mutation_p.M134I|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q9BTU6	P4K2A_HUMAN	Homo sapiens 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	48	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		ACGCGGCCATGGTGGTGACCC	0.612000														121			45		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89245980	89245980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:89245980C>T	uc002fmt.3	+	1	276	c.199C>T	c.(199-201)Cag>Tag	p.Q67*	CDH15_uc010cij.1_Nonsense_Mutation_p.Q67*	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	67	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCCCCTGGTTCAGGTGAGCAG	0.692000														19			70		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119295648	119295648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:119295648C>T	uc003pyj.3	-	13	3208	c.2860G>A	c.(2860-2862)Gat>Aat	p.D954N	FAM184A_uc003pyk.4_Intron|FAM184A_uc003pyl.4_Intron|FAM184A_uc003pyi.3_Non-coding_Transcript	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	954										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTATTAAAATCTGCCCGCATG	0.338000														64			78		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659684	121659684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:121659684G>A	uc003eep.2	+	21	2173	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	SLC15A2_uc011bjn.1_Missense_Mutation_p.E643K	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	674					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GCAGTGGGCCGAATTCATTTT	0.473000														46			52		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925335	27925336	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:27925335_27925336CC>TT	uc011dkx.2	+	0	317_318	c.317_318CC>TT	c.(316-318)gcc>gTT	p.A106V		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L105L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATTTCTGGCCTTGGGGGCTA	0.446000														41			24		0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144244968	144244968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:144244968G>A	uc002tvm.4	+	8	881	c.730G>A	c.(730-732)Gat>Aat	p.D244N	ARHGAP15_uc002tvn.3_Missense_Mutation_p.D10N	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	244					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGTGCTTCCGATACAAGCGA	0.338000														61			52		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61932690	61932690	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:61932690G>A	uc001jky.3	-	19	2688	c.2350C>T	c.(2350-2352)Cag>Tag	p.Q784*	ANK3_uc001jkx.3_5'Flank|ANK3_uc010qih.2_Nonsense_Mutation_p.Q767*|ANK3_uc001jkz.4_Nonsense_Mutation_p.Q778*|ANK3_uc001jlb.1_Nonsense_Mutation_p.Q313*|ANK3_uc001jlc.1_Nonsense_Mutation_p.Q445*	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	784					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						GCGTTGTTCTGAAGTAAGACA	0.478000														25			31		0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183085947	183085947	+	Silent	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:183085947T>C	uc001gpy.4	+	7	1730	c.1473T>C	c.(1471-1473)ggT>ggC	p.G491G		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	491	Laminin EGF-like 4.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCTCGGGGTTGCACACCCT	0.373000														51			55		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75022272	75022272	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:75022272G>C	uc001xqa.3	-	3	1342	c.955C>G	c.(955-957)Cca>Gca	p.P319A		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	319			P -> Q (in dbSNP:rs2304707).		protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCAAGGCCTGGTCCCGGGGGC	0.642000														206			14		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40937371	40937371	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:40937371G>A	uc002ibj.3	+	5	1415	c.1347G>A	c.(1345-1347)gaG>gaA	p.E449E	WNK4_uc010wgx.2_Silent_p.E113E|WNK4_uc002ibk.1_Silent_p.E221E|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	449					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACGACGGCGAGAAGCCGGGCC	0.701000														20			13		0	0	1	0	0
BPGM	669	broad.mit.edu	37	7	134363695	134363695	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:134363695C>A	uc003vrv.3	+	3	1233	c.692C>A	c.(691-693)cCt>cAt	p.P231H	BPGM_uc003vrw.3_Missense_Mutation_p.P231H	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	231					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						GCTGTTGGGCCTCATCAGTTC	0.428000														96			39		3.54909e-21	3.61016e-21	1	1	0
CPB2	1361	broad.mit.edu	37	13	46653009	46653009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:46653009C>T	uc001vaw.3	-	4	479	c.412G>A	c.(412-414)Gag>Aag	p.E138K	AK124928_uc001vau.1_Intron|AK124928_uc001vav.1_Intron|CPB2_uc001vax.3_Missense_Mutation_p.E138K	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	Homo sapiens carboxypeptidase B2 (plasma) (CPB2), transcript variant 1, mRNA.	138					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GGATGCCTCTCAGTTATAAAT	0.393000														48			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439960	179439960	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179439960C>T	uc021vsy.1	-	274	63420	c.63195G>A	c.(63193-63195)ctG>ctA	p.L21065L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L14760L|TTN_uc021vta.1_Silent_p.L14693L|TTN_uc021vtb.1_Silent_p.L14568L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21992	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACGGAGATCCAGCTCTGGAA	0.507000														20			8		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078922	133078922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:133078922G>A	uc003qdt.3	-	0	112	c.101C>T	c.(100-102)gCt>gTt	p.A34V	VNN2_uc003qds.3_5'Flank|VNN2_uc010kgb.3_Missense_Mutation_p.A34V|VNN2_uc003qdv.3_Intron	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	34	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	p.A34V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CAAAATGACAGCATGTTCATA	0.428000														78			25		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161916	239161916	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:239161916C>T	uc002vyc.3	-	18	2985	c.2748G>A	c.(2746-2748)ggG>ggA	p.G916G	PER2_uc010znv.1_Silent_p.G916G	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	916	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTTTGGGGTCCCCGAGGGGA	0.617000														100			81		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76083028	76083028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:76083028C>T	uc002jud.2	+	13	4256	c.3656C>T	c.(3655-3657)cCg>cTg	p.P1219L	TNRC6C_uc002juf.2_Missense_Mutation_p.P1216L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1219	Pro-rich.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding	p.P1219P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCACCGCCACCGCCCCCGCCG	0.667000														57			37		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65686869	65686869	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:65686869G>A	uc002aou.1	-	8	1804	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	IGDCC4_uc002aot.1_Nonsense_Mutation_p.Q120*	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	532	Fibronectin type-III 2.					integral to membrane|plasma membrane				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						AGGGAGAGCTGGGGTGCTGCA	0.622000														86			68		0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112085529	112085529	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:112085529G>A	uc001pnf.3	+	9	1494	c.1377G>A	c.(1375-1377)aaG>aaA	p.K459K	BCO2_uc001pne.1_Silent_p.K286K|BCO2_uc001png.3_Silent_p.K386K|BCO2_uc001pnh.3_Silent_p.K425K|BCO2_uc010rwt.2_Silent_p.K354K|BCO2_uc009yyn.3_Silent_p.K425K|BCO2_uc001pni.3_Silent_p.K425K	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	459					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ACCTAGAAAAGGAAGGAGGCA	0.378000														45			48		0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767765	41767765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:41767765C>T	uc001uxw.1	-	0	938	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	210							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGTCTCCTCCCGAATTGAACC	0.537000														232			49		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874293	24874293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:24874293G>A	uc001isb.2	-	25	5412	c.4925C>T	c.(4924-4926)cCc>cTc	p.P1642L	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1641	Interaction with CTNNA1.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGGAACACGGGAAACTCGCT	0.532000														43			37		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13613109	13613110	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:13613109_13613110GG>AA	uc011avc.2	+	1	1636_1637	c.1254_1255GG>AA	c.(1252-1257)gaggag>gaAAag	p.E419K	FBLN2_uc011auz.2_Missense_Mutation_p.E445K|FBLN2_uc011avb.2_Missense_Mutation_p.E419K|FBLN2_uc011ava.2_Missense_Mutation_p.E419K	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	419	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCCACGTGGAGGAGGACACAGA	0.584000														52			24		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47655579	47655579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:47655579C>T	uc003gxm.3	-	12	1927	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	CORIN_uc011bzf.2_Missense_Mutation_p.E473K|CORIN_uc011bzg.2_Missense_Mutation_p.E545K|CORIN_uc011bzh.1_Missense_Mutation_p.E575K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	612	LDL-receptor class A 5.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CCACAGTTTTCCTCATCACTG	0.408000														74			38		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558231	149558231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:149558231C>T	uc010lpn.3	+	6	2174	c.1982C>T	c.(1981-1983)cCt>cTt	p.P661L		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ACTCTGGCCCCTCTCTACAGT	0.592000														25			31		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363813	22363813	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:22363813G>A	uc002nqs.1	-	2	1024	c.706C>T	c.(706-708)Cga>Tga	p.R236*		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R236Q(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTGAGGATCGATTAAAAGCT	0.363000														107			18		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539964	133539964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:133539964C>T	uc002ttp.3	-	13	4794	c.4420G>A	c.(4420-4422)Gaa>Aaa	p.E1474K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1474							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGACCTTTTCTTCGATTGTG	0.507000														31			35		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647730	92647730	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:92647730C>T	uc002bqx.2	+	3	1168	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	SLCO3A1_uc002bqy.2_Silent_p.L323L|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.L265L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	323					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GAGGCACCCCCTGGAGCCAGA	0.617000														40			23		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51250729	51250729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:51250729C>T	uc001zyx.2	+	13	1696	c.1589C>T	c.(1588-1590)cCa>cTa	p.P530L	AP4E1_uc021skz.1_Missense_Mutation_p.P455L	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	530					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AAGGAAACGCCAGAGGAAGTT	0.343000														11			11		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3639003	3639003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:3639003G>A	uc002lyj.2	-	15	1888	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	PIP5K1C_uc010xhq.2_Missense_Mutation_p.S600F|PIP5K1C_uc010xhr.2_Missense_Mutation_p.S600F	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	600					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ACCGGCCGGGGAAGCCTCCAC	0.687000														40			35		0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70238062	70238062	+	Missense_Mutation	SNP	G	A	A	rs142745234		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:70238062G>A	uc001xll.3	+	8	2154	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	SRSF5_uc001xlo.3_Missense_Mutation_p.V235M|SRSF5_uc001xlp.3_Missense_Mutation_p.V235M	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	235	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding			large_intestine(1)|liver(1)	2						TAGGTCTCCCGTGCCTGAGAA	0.562000														161			70		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208738	23208738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:23208738G>A	uc002dlm.1	+	5	1206	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	356					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ACCTCTATAGGAATGCACCTG	0.453000														7			39		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057884	63057884	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:63057884C>T	uc009yor.3	+	0	455	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.L31L	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	83						integral to membrane	transmembrane transporter activity	p.L83M(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGACTCAAATCTGAGGCCAGA	0.498000														81			53		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129526	3129526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:3129526G>A	uc021vzx.1	-	0	191	c.191C>T	c.(190-192)tCt>tTt	p.S64F	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.S64F	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	64					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TCTCCGAGAAGAGAAGGTGCT	0.512000														40			51		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95497788	95497788	+	RNA	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:95497788C>T	uc010fhp.3	-	6		c.760G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTTCCTTTTTCATGCGAAGGT	0.413000														139			109		0	0	1	0	0
LRAT	9227	broad.mit.edu	37	4	155665896	155665896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:155665896G>A	uc003iom.1	+	0	745	c.418G>A	c.(418-420)Gag>Aag	p.E140K	DQ266889_uc003iol.3_Intron|LRAT_uc003ion.1_Missense_Mutation_p.E140K	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	140					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GCTCAACGAGGAGGTGGCGCG	0.587000														58			62		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528012	7528012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:7528012C>T	uc010sge.2	-	10	2922	c.2896G>A	c.(2896-2898)Gga>Aga	p.G966R	CD163L1_uc001qsy.3_Missense_Mutation_p.G956R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	956	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTTCTTTCTCCAATATATTTT	0.498000														36			30		0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87162404	87162404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:87162404G>A	uc003ydp.1	+	5	772	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	235					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ATTGAGCAAAGAAGACCGAGA	0.448000														56			20		0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217817	134217817	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:134217817T>C	uc003vrr.3	+	3	733	c.413T>C	c.(412-414)tTc>tCc	p.F138S		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	138					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AAAGCAACGTTCTTGGATGCC	0.458000														117			36		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7725482	7725482	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:7725482A>G	uc003gkb.4	+	18	2483	c.2483A>G	c.(2482-2484)tAc>tGc	p.Y828C	SORCS2_uc011bwi.2_Missense_Mutation_p.Y656C	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	828	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AAGGCCATGTACGTGAACCTT	0.607000														236			153		0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504274	151504274	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:151504274C>T	uc003ilw.3	+	0	1198	c.93C>T	c.(91-93)atC>atT	p.I31I	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	31					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCAAAACCATCCGAGAGGTCT	0.592000														19			30		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59308075	59308076	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:59308075_59308076GG>AA	uc001sqr.3	-	1	524_525	c.278_279CC>TT	c.(277-279)tcc>tTT	p.S93F	LRIG3_uc009zqh.3_Missense_Mutation_p.S33F|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	93						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GGTGGCTCATGGAACTTGCCTT	0.327000			T	ROS1	NSCLC									21			76		0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9974647	9974647	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:9974647G>A	uc003bua.3	+	18	1964	c.1746G>A	c.(1744-1746)agG>agA	p.R582R	CIDEC_uc003bto.3_Intron|IL17RC_uc003btz.3_Silent_p.R511R|IL17RC_uc011atp.2_Silent_p.R337R|IL17RC_uc003bud.3_Silent_p.R52R|IL17RC_uc010hct.3_Silent_p.R498R|IL17RC_uc010hcu.3_Silent_p.R481R|IL17RC_uc003bub.3_Silent_p.R496R|IL17RC_uc010hcv.3_Silent_p.R479R|IL17RC_uc003buc.3_Silent_p.R39R|IL17RC_uc011atq.2_Missense_Mutation_p.G528R|IL17RC_uc003bue.3_Silent_p.R134R|CRELD1_uc003buh.3_5'Flank|CRELD1_uc003buf.3_5'Flank|CRELD1_uc003bug.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	582						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGGCCGCCAGGGGCCGCGCGG	0.736000											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			14		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60776166	60776166	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:60776166C>T	uc001nqq.3	+	3	855	c.630C>T	c.(628-630)gcC>gcT	p.A210A	CD6_uc009yni.3_Silent_p.A210A|CD6_uc009ynj.3_Silent_p.A210A|CD6_uc001nqp.3_Silent_p.A210A|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.A210A|CD6_uc001nqt.3_Silent_p.A210A	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	210	SRCR 2.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGTCCAGGCCCTGCCCGGCT	0.692000														17			9		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631714	116631714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:116631714G>A	uc003yny.3	-	2	1189	c.611C>T	c.(610-612)tCa>tTa	p.S204L	TRPS1_uc011lhy.2_Missense_Mutation_p.S195L|TRPS1_uc003ynz.3_Missense_Mutation_p.S191L|TRPS1_uc010mcy.3_Missense_Mutation_p.S191L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	191					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACCCCCATCTGAAGGCACTTG	0.488000									Langer-Giedion syndrome					80			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8974052	8974052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:8974052G>A	uc002mkp.3	-	75	42823	c.42619C>T	c.(42619-42621)Cac>Tac	p.H14207Y	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.H1007Y|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14268	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGACAATGTGGAAATTTATC	0.502000														26			12		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166012313	166012313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:166012313G>A	uc002ucx.3	-	9	1624	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	SCN3A_uc002ucy.3_Nonsense_Mutation_p.R378*|SCN3A_uc002ucz.3_Nonsense_Mutation_p.R378*|SCN3A_uc002uda.1_Nonsense_Mutation_p.R247*|SCN3A_uc002udb.1_Nonsense_Mutation_p.R247*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	378						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R378Q(2)|p.R378*(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTCATGAGTCGAAATAGAGAC	0.413000														47			35		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595524	44595524	+	Missense_Mutation	SNP	C	G	G	rs138244178	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:44595524C>G	uc001clp.3	+	1	639	c.581C>G	c.(580-582)cCg>cGg	p.P194R	KLF17_uc009vxf.1_Missense_Mutation_p.P157R	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	194					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TTGTTGGGCCCGACTGTGCCT	0.597000														127			37		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220427190	220427190	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:220427190C>G	uc010fwk.3	-	7	3201	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q	OBSL1_uc002vmh.1_5'Flank|OBSL1_uc010zli.1_5'UTR|OBSL1_uc010fwl.2_Missense_Mutation_p.E963Q|OBSL1_uc002vmi.3_Missense_Mutation_p.E963Q	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	963	Ig-like 7.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGGAGTCCTCGAGCTGGACA	0.647000														151			29		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579076	82579076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:82579076C>T	uc003uhx.2	-	5	11117	c.10828G>A	c.(10828-10830)Gta>Ata	p.V3610I	PCLO_uc003uhv.2_Missense_Mutation_p.V3610I|PCLO_uc010lec.3_Missense_Mutation_p.V575I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3541					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCAGCTGTACTGTGGAATCT	0.488000														56			23		0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40873681	40873681	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40873681C>T	uc002onm.4	+	5	722	c.324C>T	c.(322-324)gcC>gcT	p.A108A	PLD3_uc021uus.1_Silent_p.A108A|PLD3_uc002onj.4_Silent_p.A108A|PLD3_uc002onn.3_Silent_p.A108A|PLD3_uc002ono.3_3'UTR	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	108					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)			CCAGCCAGGCCTGGCTGGGCC	0.652000														41			26		0	0	1	0	0
CCDC56	28958	broad.mit.edu	37	17	40948072	40948072	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:40948072G>A	uc010wgz.1	-	2	463	c.186C>T	c.(184-186)tcC>tcT	p.S62S	WNK4_uc002ibj.3_Intron|WNK4_uc010wgx.2_Intron|CNTD1_uc002ibm.4_5'Flank|CNTD1_uc010wha.2_5'Flank			Q9Y2R0	CCD56_HUMAN	Homo sapiens coiled-coil domain containing 56 (CCDC56), mRNA.	0						integral to membrane				liver(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0741)		GGAGGATGGAGGAGTGAGAGG	0.562000														128			96		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049484	9049484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9049484G>A	uc002mkp.3	-	4	32351	c.32147C>T	c.(32146-32148)cCt>cTt	p.P10716L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10718	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGCCCCAGGACTGGTGGC	0.478000														240			204		0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4290474	4290474	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:4290474C>T	uc002lzw.2	+	5	2330	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	289	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGAAGTTCGCGCGGACCC	0.657000														150			101		0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45924575	45924575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:45924575G>A	uc002pbs.2	-	2	328	c.182C>T	c.(181-183)gCc>gTc	p.A61V	ERCC1_uc002pbt.2_Missense_Mutation_p.A61V|ERCC1_uc002pbu.2_Intron|ERCC1_uc002pbv.3_Missense_Mutation_p.A61V	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	61					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		GGCATATTCGGCGTAGGTCTG	0.637000								Nucleotide excision repair (NER)						81			52		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30516734	30516734	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:30516734G>T	uc002dyi.4	+	19	2493	c.2317G>T	c.(2317-2319)Gag>Tag	p.E773*	ITGAL_uc002dyj.4_Nonsense_Mutation_p.E689*|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	773					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAACTGTGGGGAGGACAAGAA	0.527000														34			151		2.283e-98	2.3566e-98	1	1	0
SERPINB1	1992	broad.mit.edu	37	6	2833937	2833937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:2833937C>T	uc003mub.3	-	6	1089	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_030666	NP_109591	P30740	ILEU_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 1 (SERPINB1), mRNA.	349					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		AAATTTTCTTCGGGCATCAAC	0.448000														28			23		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458565	142458565	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142458565C>T	uc003wak.2	+	2	217	c.200_splice	c.e2+1	p.S67_splice	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Silent_p.V42V|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	67	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGCTACAAGTCGTAAGTGTGG	0.582000														69			33		0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10104169	10104169	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:10104169C>T	uc002raa.3	+	5	1072	c.901C>T	c.(901-903)Cga>Tga	p.R301*	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Nonsense_Mutation_p.R112*|GRHL1_uc010yjb.2_Nonsense_Mutation_p.R150*	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	301					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CAGCAAAGTTCGAGTAAGTTC	0.478000														58			28		0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60854354	60854354	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:60854354G>A	uc002yck.1	+	6	835	c.633G>A	c.(631-633)gtG>gtA	p.V211V	OSBPL2_uc002ycl.1_Silent_p.V199V|OSBPL2_uc011aah.1_Silent_p.V119V|OSBPL2_uc002ycm.1_Nonsense_Mutation_p.W20*	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	211					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GCAAAAGCGTGGAGGCGGAGC	0.592000														53			45		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35086398	35086398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:35086398G>A	uc003jjm.3	-	3	674	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Missense_Mutation_p.P39S|PRLR_uc003jjh.2_Missense_Mutation_p.P39S|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Missense_Mutation_p.P39S|PRLR_uc003jjl.4_Intron|PRLR_uc021xxl.1_Missense_Mutation_p.P39S|PRLR_uc010iuw.1_5'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	39	Fibronectin type-III 1.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCCTTATTGGGAGAACGACAT	0.453000														48			40		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725524	87725524	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:87725524C>T	uc003pli.3	+	1	1175	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	HTR1E_uc021zcg.1_Silent_p.L158L	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	158					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CATGCCCCCTCTGTTCTGGAG	0.562000														92			40		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87342598	87342598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:87342598C>T	uc004aoa.1	+	10	1821	c.883C>T	c.(883-885)Cca>Tca	p.P295S	NTRK2_uc004anv.1_Intron|NTRK2_uc004any.1_Missense_Mutation_p.P295S|NTRK2_uc004anz.1_Missense_Mutation_p.P295S|NTRK2_uc004aob.1_Missense_Mutation_p.P295S|NTRK2_uc011lsz.2_Missense_Mutation_p.P295S|NTRK2_uc011lta.2_Missense_Mutation_p.P295S|NTRK2_uc011ltb.1_Missense_Mutation_p.P139S	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	295	Ig-like C2-type 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TCTCGAATCTCCAACCTCAGA	0.443000										TSP Lung(25;0.17)				12			38		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526214	52526214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:52526214C>T	uc003ded.4	+	20	4365	c.4231C>T	c.(4231-4233)Cgc>Tgc	p.R1411C	NISCH_uc003dee.4_Missense_Mutation_p.R900C|NISCH_uc003deg.1_Intron	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1411					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGACGATGGCCGCCGCGTCCG	0.632000														202			54		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154456751	154456751	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:154456751C>T	uc001ffb.3	-	5	1386	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	454	SH2.									breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGTCTGATTCAGTGTGTATT	0.433000														34			36		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927895	22927895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:22927895G>A	uc001bfx.1	+	15	2957	c.2832G>A	c.(2830-2832)atG>atA	p.M944I		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	944	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATCCGCATGGGCCGGTACC	0.692000														205			68		0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4881825	4881825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4881825G>A	uc010cku.2	-	9	2220	c.1808C>T	c.(1807-1809)cCt>cTt	p.P603L	CAMTA2_uc002gag.2_Missense_Mutation_p.P579L|CAMTA2_uc002gah.2_Missense_Mutation_p.P580L|CAMTA2_uc002gai.2_Missense_Mutation_p.P582L|CAMTA2_uc010ckv.1_Missense_Mutation_p.P227L	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	580	IPT/TIG.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TAAGACACCAGGCTGGACAAG	0.577000														87			135		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39070657	39070657	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:39070657C>T	uc002oit.3	+	99	14530	c.14400C>T	c.(14398-14400)tcC>tcT	p.S4800S	RYR1_uc002oiu.3_Silent_p.S4795S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4800					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGTGATGTCCCTCTTGGGAC	0.592000														206			161		0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224716	77224716	+	Silent	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:77224716G>T	uc004ecy.1	-	0	420	c.420C>A	c.(418-420)cgC>cgA	p.R140R	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.4_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA.	140					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CTGCATACCTGCGATCCTTAC	0.527000														9			80		4.10028e-47	4.21829e-47	1	1	0
IGSF21	84966	broad.mit.edu	37	1	18702887	18702887	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:18702887C>T	uc001bau.2	+	6	1482	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	IGSF21_uc001bav.2_Nonsense_Mutation_p.Q188*	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	367	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCATGGGTTTCAGGTCAGCCT	0.577000														190			72		0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47064588	47064588	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:47064588C>T	uc003bhx.3	+	10	982	c.933C>T	c.(931-933)aaC>aaT	p.N311N	GRAMD4_uc010had.3_Silent_p.N250N	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	311					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TCACACAGAACCTTTTCGGGA	0.652000														192			56		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937974	76937974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:76937974G>A	uc004ecp.4	-	8	3006	c.2774C>T	c.(2773-2775)tCt>tTt	p.S925F	ATRX_uc004ecq.4_Missense_Mutation_p.S887F|ATRX_uc004eco.4_Missense_Mutation_p.S710F|ATRX_uc004ecr.2_Missense_Mutation_p.S857F|ATRX_uc010nlx.1_Missense_Mutation_p.S896F|ATRX_uc010nly.1_Missense_Mutation_p.S870F	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	925					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCTTTCCCAGAAAGCTTATC	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							13			68		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130485509	130485509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:130485509G>A	uc004brq.1	+	6	836	c.769G>A	c.(769-771)Gat>Aat	p.D257N	PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Missense_Mutation_p.D244N|TTC16_uc004brr.1_Missense_Mutation_p.D202N|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	257							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCGCGCCAAGATGCGGGGAT	0.637000														39			33		0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18491677	18491677	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:18491677T>A	uc002wra.2	+	1	659	c.198T>A	c.(196-198)tgT>tgA	p.C66*	SEC23B_uc010zsb.2_Nonsense_Mutation_p.C66*|SEC23B_uc002wrb.2_Nonsense_Mutation_p.C66*|SEC23B_uc002wqz.2_Nonsense_Mutation_p.C66*|SEC23B_uc002wrc.2_Nonsense_Mutation_p.C66*	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	66					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGCCAACTTGTAAAGCTGTTC	0.383000														118			93		0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	33980919	33980919	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:33980919G>A	uc002nur.4	-	5	619	c.486C>T	c.(484-486)tcC>tcT	p.S162S	PEPD_uc010xrs.2_Silent_p.S98S|PEPD_uc010xrr.2_Silent_p.S162S	NM_000285	NP_000276	P12955	PEPD_HUMAN	Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.	162					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					TGCCGTCAAAGGAGGCCTCCC	0.622000														32			17		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156351701	156351701	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156351701G>A	uc010pho.2	+	5	983	c.945G>A	c.(943-945)ggG>ggA	p.G315G	RHBG_uc010phm.1_Silent_p.G153G|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Silent_p.G246G|RHBG_uc009wrz.3_Silent_p.G283G|RHBG_uc001for.3_Silent_p.G285G	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	315			G -> R (in dbSNP:rs3748569).		transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTTGGCTGGGACTGTCTCCA	0.562000														59			71		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846284	55846284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:55846284C>T	uc001sgz.1	+	0	287	c.287C>T	c.(286-288)gCc>gTc	p.A96V		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AATGCTTGTGCCAGTCAAATA	0.388000														15			60		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530532	110530532	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:110530532C>T	uc003yne.3	+	72	11930	c.11826C>T	c.(11824-11826)ttC>ttT	p.F3942F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3942					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGTTTCTTTCCAATTATCTG	0.353000										HNSCC(38;0.096)				52			22		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61585313	61585313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:61585313G>A	uc010xev.2	+	3	439	c.349G>A	c.(349-351)Gag>Aag	p.E117K	SERPINB2_uc010xew.2_Missense_Mutation_p.E117K	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	132					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GATATATGGAGAGAAAACGTA	0.353000														33			12		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37299634	37299634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:37299634C>T	uc003jku.1	-	30	3716	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K	NUP155_uc003jkt.1_Missense_Mutation_p.E1141K|NUP155_uc010iuz.1_Missense_Mutation_p.E1136K	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	1200					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.E1200K(2)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTTGCACTCTGCAAGTTTA	0.368000														72			52		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53573412	53573412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:53573412G>A	uc004dsp.3	-	69	11302	c.10900C>T	c.(10900-10902)Ctt>Ttt	p.L3634F	HUWE1_uc004dsn.3_Missense_Mutation_p.L2442F|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3634					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTTTACAAAGGGTATAACCC	0.493000														4			19		0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219747107	219747107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:219747107G>A	uc002vjd.1	+	1	801	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	113					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGAGACTCGCAACAAGATC	0.577000														192			40		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8494734	8494734	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:8494734C>T	uc001mgi.1	-	1	1234	c.315G>A	c.(313-315)agG>agA	p.R105R	STK33_uc001mgj.1_Silent_p.R105R|STK33_uc001mgk.1_Silent_p.R105R|STK33_uc010rbn.1_Silent_p.R64R|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	105						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CATTCTCAATCCTTATGTGAG	0.403000														84			51		0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3661546	3661546	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:3661546G>T	uc001lyb.1	-	1	506	c.113C>A	c.(112-114)aCc>aAc	p.T38N	ART5_uc001lyc.1_Missense_Mutation_p.T38N|ART5_uc001lyd.3_Missense_Mutation_p.T38N|ART5_uc009yea.3_Missense_Mutation_p.T38N	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	38						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCACATAGGTATCGTCAAA	0.597000														65			42		1.52319e-26	1.55248e-26	1	1	0
CDH23	64072	broad.mit.edu	37	10	73377129	73377129	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:73377129C>T	uc001jrx.4	+	10	1503	c.1113C>T	c.(1111-1113)atC>atT	p.I371I	CDH23_uc001jrw.4_Silent_p.I371I|CDH23_uc001jry.3_Silent_p.I371I|CDH23_uc001jrz.3_Silent_p.I371I|CDH23_uc021psl.1_Silent_p.I371I|CDH23_uc009xql.3_Silent_p.I371I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	371	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACTCTTCATCCAGGTGGTGG	0.582000														56			24		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84270636	84270636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:84270636G>A	uc021zcf.1	-	25	2503	c.2473C>T	c.(2473-2475)Cct>Tct	p.P825S	SNAP91_uc011dzd.2_Missense_Mutation_p.P323S|SNAP91_uc003pka.3_Missense_Mutation_p.P823S|SNAP91_uc011dze.2_Missense_Mutation_p.P823S|SNAP91_uc003pkc.3_Missense_Mutation_p.P795S|SNAP91_uc003pkd.3_Missense_Mutation_p.P518S|SNAP91_uc003pkb.3_Missense_Mutation_p.P734S	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	825	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCAACAGGAGGAACTGAACTG	0.423000														21			19		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23808674	23808674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:23808674G>A	uc003sws.4	+	11	1544	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	STK31_uc003swt.4_Missense_Mutation_p.E470K|STK31_uc011jze.2_Missense_Mutation_p.E493K|STK31_uc010kuq.3_Missense_Mutation_p.E470K	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	493							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATTCTGATGAAATACTTAA	0.368000														34			11		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36259114	36259114	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:36259114C>G	uc010jwf.2	+	1	223	c.223C>G	c.(223-225)Ctc>Gtc	p.L75V	PNPLA1_uc010jwe.1_5'UTR|PNPLA1_uc003olw.1_5'UTR	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	75	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCTCAGAGTCCTCAACGTGGG	0.582000														30			34		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165703502	165703502	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:165703502A>G	uc003qum.4	-	6	1211	c.1175T>C	c.(1174-1176)gTt>gCt	p.V392A	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	392										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTCTTTTCAACCTTCTCAGT	0.308000														20			7		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739325	38739325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38739325C>T	uc003ciq.3	-	26	5386	c.5386G>A	c.(5386-5388)Gat>Aat	p.D1796N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1796					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGATCTTATCTCCAGGGACC	0.478000														37			21		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152322470	152322470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:152322470C>T	uc002txm.3	+	29	6597	c.6436C>T	c.(6436-6438)Caa>Taa	p.Q2146*	RIF1_uc002txn.3_Nonsense_Mutation_p.Q2146*|RIF1_uc002txl.3_Nonsense_Mutation_p.Q2146*|RIF1_uc002txo.3_Nonsense_Mutation_p.Q2146*|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2146	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGCATCTCCTCAAAAACTAAG	0.453000														46			38		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45421618	45421618	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:45421618A>C	uc002iln.3	+	6	825	c.394A>C	c.(394-396)Aag>Cag	p.K132Q	ITGB3_uc010wkr.1_Non-coding_Transcript|C17orf57_uc002ilm.3_Missense_Mutation_p.K132Q|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Missense_Mutation_p.K132Q	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	132							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						CAGCGTTCACAAGACTTCATC	0.393000														158			30		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173679	207173679	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:207173679C>G	uc002vbp.2	+	4	4677	c.4427C>G	c.(4426-4428)gCa>gGa	p.A1476G		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1476							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TACAAAGAGGCAGACCTTCAG	0.373000														7			4		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41577211	41577211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:41577211C>T	uc003xok.3	-	9	1159	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.D359N|ANK1_uc003xoj.3_Missense_Mutation_p.D359N|ANK1_uc003xol.3_Missense_Mutation_p.D359N|ANK1_uc003xom.3_Missense_Mutation_p.D392N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	359	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCCCTTTATCCAGAAGGACC	0.622000														185			221		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83195190	83195190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:83195190C>T	uc001paj.2	-	16	2263	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc021qof.1_Missense_Mutation_p.E693K|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Missense_Mutation_p.E759K|DLG2_uc010rtb.1_Missense_Mutation_p.E621K|DLG2_uc010rsx.1_Intron|DLG2_uc010rsw.1_Intron	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	654						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCACTGGTTTCCTGCTCACTC	0.408000														51			39		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103266681	103266681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:103266681G>A	uc003ykr.2	-	58	8704	c.8249C>T	c.(8248-8250)cCc>cTc	p.P2750L	UBR5_uc003yks.2_Missense_Mutation_p.P2749L|UBR5_uc003ykq.3_Missense_Mutation_p.P261L	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2750	HECT.|Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTGATTGAGGGCATAGGCTG	0.413000														44			54		0	0	1	0	0
MMD	23531	broad.mit.edu	37	17	53471726	53471726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:53471726C>T	uc002iui.3	-	6	971	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.	229					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGTAGGACTTCGGTAAAGGTA	0.463000														173			122		0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211302499	211302499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:211302499G>A	uc010zjh.2	-	6	863	c.788C>T	c.(787-789)cCa>cTa	p.P263L	LANCL1_uc002ved.3_Missense_Mutation_p.P263L|LANCL1_uc010fuq.3_Missense_Mutation_p.P263L	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	263						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		ACCTATACATGGAGGGTAATT	0.488000														70			56		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151788952	151788952	+	Silent	SNP	C	T	T	rs138956153	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:151788952C>T	uc010ipj.3	-	21	2881	c.2637G>A	c.(2635-2637)aaG>aaA	p.K879K	LRBA_uc003ilu.4_Silent_p.K879K	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	879						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CATCTGAATTCTTAGGATTAA	0.403000														64			75		0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137790600	137790600	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:137790600C>T	uc003erq.3	-	11	1863	c.1500G>A	c.(1498-1500)cgG>cgA	p.R500R	DZIP1L_uc003err.1_Silent_p.R500R	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	500						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CAGAAAACTTCCGGGCCTTCT	0.542000														30			51		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776765	164776765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:164776765G>A	uc003fei.3	-	11	1447	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	462	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCAATAATTGGTGTACTTCCA	0.368000										HNSCC(35;0.089)				16			12		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392041	117392041	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:117392041C>T	uc001prh.1	-	5	1199	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	DSCAML1_uc001pri.1_Silent_p.T203T	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	339	Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGGGGAGCCCGTCAGGGCAC	0.632000														68			47		0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38947606	38947606	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:38947606C>T	uc003xmr.3	+	18	2187	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	ADAM9_uc010lwr.3_Intron|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	703					PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TGGTCTTCTTCTTCCTAATTG	0.378000														112			46		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583692	145583692	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:145583692C>T	uc003zcc.2	+	2	704	c.540C>T	c.(538-540)acC>acT	p.T180T	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.T180T|SLC52A2_uc010mfy.2_Silent_p.T180T|SLC52A2_uc011llc.2_Silent_p.T92T|SLC52A2_uc003zcd.2_Silent_p.T180T	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	180						integral to plasma membrane	receptor activity|riboflavin transporter activity										TCAACGGCACCCCTGGCCCCC	0.672000														50			92		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102451	44102451	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:44102451G>C	uc003owr.3	+	1	194	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L	TMEM63B_uc003owq.1_Missense_Mutation_p.V44L|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	44						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CGTCCCCACCGTGCTGGCTCT	0.607000														191			8		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20848605	20848605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:20848605G>A	uc001vxe.3	-	33	4832	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	TEP1_uc010ahk.3_Missense_Mutation_p.L941F|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.L1490F|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1598					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCTCGGGGAGCTTTTGTTCC	0.572000														27			48		0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118948832	118948832	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:118948832G>A	uc003ecg.3	-	2	756	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	B4GALT4_uc003ece.1_Nonsense_Mutation_p.Q39*|B4GALT4_uc003ech.3_Nonsense_Mutation_p.Q39*|B4GALT4_uc003eci.3_Nonsense_Mutation_p.Q39*|B4GALT4_uc011biy.1_Intron	NM_212543	NP_997708	O60513	B4GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 (B4GALT4), transcript variant 1, mRNA.	39					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|metal ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGAATCTCTTGAATGGCACCC	0.453000														33			54		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154088746	154088746	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:154088746G>A	uc004fmt.3	-	24	7032	c.6861C>T	c.(6859-6861)ggC>ggT	p.G2287G	F8_uc004fms.3_Silent_p.G152G	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2287	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCACTGATGGCCATCTTGAC	0.418000														8			81		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	107016346	107016346	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:107016346G>A	uc003prh.3	+	20	5990	c.5078_splice	c.e20-1	p.G1693_splice	AIM1_uc003pri.3_Splice_Site_p.G497_splice	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1693	Ricin B-type lectin.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTTTCTTTTAGGGGGCACACA	0.393000														52			65		0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55950091	55950091	+	Silent	SNP	G	A	A	rs148211596	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:55950091G>A	uc002ivd.1	-	4	1436	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CUEDC1_uc002ive.1_Silent_p.F239F	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	239										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGTTCTGCAGGAAAAGCGCGA	0.637000														128			90		0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42037793	42037793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:42037793C>T	uc003xos.2	-	10	1398	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	PLAT_uc010lxf.1_Missense_Mutation_p.E314K|PLAT_uc010lxg.1_Missense_Mutation_p.E222K|PLAT_uc003xot.2_Missense_Mutation_p.E351K|PLAT_uc011lcm.1_Missense_Mutation_p.E308K|PLAT_uc011lcn.1_Missense_Mutation_p.E271K	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	397	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCATCGAATTCCTTATGGACA	0.498000														250			88		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36896953	36896953	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:36896953C>T	uc003cgj.3	-	11	4376	c.4128G>A	c.(4126-4128)agG>agA	p.R1376R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1376					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTTCGACAGCCTCCGGGATA	0.502000														122			79		0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231339757	231339757	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:231339757G>T	uc009xfn.1	+	6	1722	c.1680_splice	c.e6+1	p.R560_splice		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	560	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGACAGTTCCGGGTGAGGCCT	0.632000														38			54		1.931e-44	1.98525e-44	1	1	0
C17orf101	79701	broad.mit.edu	37	17	80373289	80373289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:80373289G>A	uc002ket.2	-	1	441	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Missense_Mutation_p.H97Y|HEXDC_uc002kev.4_5'Flank	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	97						integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						AACCTGCGGTGACTGTCGTAG	0.587000														302			82		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151514067	151514067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:151514067C>T	uc010ntk.1	-	2	488	c.248G>A	c.(247-249)cGa>cAa	p.R83Q		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	83					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.R83Q(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGCCCAGGTCGCAGCCGGTT	0.453000														9			40		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931122	150931122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:150931122C>T	uc003eyr.1	-	2	1461	c.983G>A	c.(982-984)gGa>gAa	p.G328E	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.G328E|P2RY14_uc021xfz.1_Missense_Mutation_p.G328E	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	328						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTGTATTTCCTCTTTTGAT	0.363000														51			41		0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27362507	27362507	+	Silent	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:27362507G>T	uc003xfu.3	+	3	462	c.381G>T	c.(379-381)ctG>ctT	p.L127L	EPHX2_uc010lut.1_Silent_p.L127L|EPHX2_uc010luv.3_Silent_p.L61L|EPHX2_uc003xfv.3_Silent_p.L74L|EPHX2_uc010luw.3_Silent_p.L61L|EPHX2_uc011lam.1_5'UTR	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	127	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	ACACCTGGCTGGACGACCGTG	0.527000														31			26		1.02151e-06	1.02955e-06	1	1	0
HEATR5B	54497	broad.mit.edu	37	2	37284583	37284583	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:37284583G>A	uc002rpp.1	-	14	2196	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	700							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAGTCAAAGTGAATTCCGCTA	0.363000														36			17		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43769853	43769853	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:43769853T>A	uc001zrs.3	-	7	1026	c.878A>T	c.(877-879)aAg>aTg	p.K293M	TP53BP1_uc010udp.2_Missense_Mutation_p.K293M|TP53BP1_uc001zrq.4_Missense_Mutation_p.K298M|TP53BP1_uc001zrr.4_Missense_Mutation_p.K298M|TP53BP1_uc010udq.1_Missense_Mutation_p.K298M	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	293					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTCTGGTGACTTCTGAATCTG	0.443000								Other conserved DNA damage response genes						97			17		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90015878	90015878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:90015878C>T	uc003kju.3	+	43	9557	c.9461C>T	c.(9460-9462)tCt>tTt	p.S3154F	GPR98_uc003kjt.3_Missense_Mutation_p.S860F|GPR98_uc003kjv.3_Missense_Mutation_p.S754F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3154	Calx-beta 22.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTACAAATATCTGCCATATTA	0.368000														102			57		0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21550456	21550456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:21550456C>T	uc001vzp.3	+	14	3334	c.3305C>T	c.(3304-3306)gCc>gTc	p.A1102V	ARHGEF40_uc001vzo.1_Missense_Mutation_p.A181V|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Missense_Mutation_p.A388V	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	1102	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GATTACGTGGCCACCTTGAGT	0.637000														34			29		0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215674232	215674232	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:215674232C>A	uc002veu.2	-	0	197	c.62G>T	c.(61-63)cGt>cTt	p.R21L	BARD1_uc021vwe.1_Missense_Mutation_p.R21L|BARD1_uc021vwf.1_5'UTR|BARD1_uc021vwg.1_Missense_Mutation_p.R21L|BARD1_uc021vwh.1_Missense_Mutation_p.R21L|BARD1_uc021vwi.1_Missense_Mutation_p.R21L|BARD1_uc021vwc.1_5'UTR|BARD1_uc021vwd.1_5'UTR|BARD1_uc010zjm.1_5'UTR|BARD1_uc021vwj.1_Missense_Mutation_p.R21L	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	21					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGCGCGGAACGAGGCTCGTT	0.692000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					12			14		0.000308642	0.000309852	1	1	0
ALK	238	broad.mit.edu	37	2	29543648	29543648	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:29543648G>A	uc002rmy.3	-	6	2467	c.1515C>T	c.(1513-1515)acC>acT	p.T505T		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	505	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATCCTTTAGGGTCCTGACCT	0.547000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					158			136		0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39659586	39659586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:39659586C>T	uc002hwu.1	-	2	751	c.688G>A	c.(688-690)Gag>Aag	p.E230K	KRT13_uc002hwv.1_Missense_Mutation_p.E230K|KRT13_uc010wfr.2_Missense_Mutation_p.E123K|KRT13_uc010cxo.3_Missense_Mutation_p.E230K|KRT13_uc021txk.1_Missense_Mutation_p.E123K	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	230	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.I229I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTCAGGCTCTCGATCTGCATC	0.582000														155			62		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080479	42080479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:42080479G>A	uc002yyq.1	-	1	714	c.262C>T	c.(262-264)Cct>Tct	p.P88S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	88	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAGCTTGAAGGAGGGAAGGGG	0.498000														55			54		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183700571	183700571	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:183700571G>A	uc003fmg.3	-	5	981	c.816C>T	c.(814-816)tcC>tcT	p.S272S	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Silent_p.S272S	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	272	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTCACCCAGGGATTTCTCTT	0.488000														45			11		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42915883	42915883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:42915883C>T	uc003cmh.3	-	0	1751	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	476					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CGCTGCGGGTCAACATGGGGT	0.562000														46			35		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367099	32367099	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:32367099G>C	uc001utt.3	+	15	1731	c.1660G>C	c.(1660-1662)Gta>Cta	p.V554L	RXFP2_uc010aba.3_Missense_Mutation_p.V530L	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	554						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTTAATAGCTGTAATTCCATT	0.388000														41			23		0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111955450	111955450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:111955450C>T	uc010tjo.2	+	19	2208	c.2156C>T	c.(2155-2157)aCc>aTc	p.T719I	ARHGEF7_uc001vrv.4_Missense_Mutation_p.T644I|ARHGEF7_uc001vrw.4_Missense_Mutation_p.T644I|ARHGEF7_uc001vrx.4_Missense_Mutation_p.T644I	NM_003899	NP_003890	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 1, mRNA.	0					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGGATGAGACCAATCTATAA	0.512000														13			10		0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135764126	135764126	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:135764126C>T	uc004fab.3	-	14	1942	c.1480_splice	c.e14-1	p.G494_splice	ARHGEF6_uc011mwd.2_Splice_Site_p.G367_splice|ARHGEF6_uc011mwe.2_Splice_Site_p.G340_splice	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	494	PH.				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGGTATTTTTCCCTATTAGAA	0.358000														28			22		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22051977	22051977	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:22051977G>A	uc003xbg.3	+	10	1583	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	BMP1_uc003xbf.3_Silent_p.V188V|BMP1_uc003xbb.3_Silent_p.V439V|BMP1_uc003xbc.3_Silent_p.V188V|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.V188V|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	439	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGGGTGATGTGAAAAAGGACT	0.582000														84			38		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73568065	73568065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:73568065G>A	uc002joh.3	+	18	2534	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	LLGL2_uc002joi.3_Missense_Mutation_p.E794K|LLGL2_uc010dgg.2_Missense_Mutation_p.E794K|LLGL2_uc002joj.3_Missense_Mutation_p.E783K|LLGL2_uc010wsd.2_Missense_Mutation_p.E421K	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	794					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGAGCCCCTCGAAGTGGCCCA	0.652000														62			32		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27320720	27320720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:27320720C>T	uc010lur.3	-	5	1849	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	CHRNA2_uc011lal.2_Missense_Mutation_p.E399K|CHRNA2_uc010lus.3_Missense_Mutation_p.E216K	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	414						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ACCACCACCTCCCTCTCCTCG	0.667000														124			47		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329126	80329126	+	Missense_Mutation	SNP	C	T	T	rs149134428		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:80329126C>T	uc003hlu.3	-	0	247	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	77					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ATATTCAGTTCGTCAAGTTTC	0.418000														104			116		0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44105077	44105077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:44105077G>A	uc003tjs.3	-	0	110	c.52C>T	c.(52-54)Cag>Tag	p.Q18*		NM_000290	NP_000281	P15259	PGAM2_HUMAN	Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.	18					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CGGTTCTCCTGGTTCCATGTG	0.627000														109			44		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051328	38051328	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:38051328G>A	uc003gtb.3	+	10	2077	c.1719G>A	c.(1717-1719)tcG>tcA	p.S573S	TBC1D1_uc011byd.2_Silent_p.S573S|TBC1D1_uc010ifd.3_Silent_p.S320S|TBC1D1_uc011byf.1_Silent_p.S444S	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	573						nucleus	Rab GTPase activator activity	p.D572N(3)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCAGTGACTCGGAGAGTCATC	0.592000														75			87		0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66782952	66782952	+	Nonstop_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:66782952A>C	uc010bhq.3	+	10	1656	c.1181A>C	c.(1180-1182)tAa>tCa	p.*394S	MAP2K1_uc010ujp.2_Nonstop_Mutation_p.*372S|SNAPC5_uc002apt.1_Nonsense_Mutation_p.L44*|SNAPC5_uc002apu.1_3'UTR	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	0					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK 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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GCTGGCGTCTAAGTGTTTGGG	0.542000														112			5		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	597478	597479	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:597478_597479CC>TT	uc002chi.3	+	3	1003_1004	c.640_641CC>TT	c.(640-642)cca>TTa	p.P214L	SOLH_uc002chh.1_Missense_Mutation_p.P214L	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	214					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				GGCCAACCCCCCAGCCACCAGC	0.748000														4			23		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144662304	144662305	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:144662304_144662305CC>TT	uc003yyq.2	-	6	2161_2162	c.1932_1933GG>AA	c.(1930-1935)tggggg>tgAAgg	p.644_645WG>*R	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Nonsense_Mutation_p.570_571WG>*R|EEF1D_uc011lki.2_Nonsense_Mutation_p.228_229WG>*R|EEF1D_uc003yyv.3_Nonsense_Mutation_p.204_205WG>*R|EEF1D_uc003yyu.3_Nonsense_Mutation_p.228_229WG>*R|EEF1D_uc011lkk.2_Nonsense_Mutation_p.228_229WG>*R|EEF1D_uc003yyt.3_Nonsense_Mutation_p.594_595WG>*R|EEF1D_uc003yyr.3_Nonsense_Mutation_p.594_595WG>*R|EEF1D_uc003yys.3_Nonsense_Mutation_p.228_229WG>*R|EEF1D_uc011lkl.2_Nonsense_Mutation_p.209_210WG>*R	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	228					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TTGGAAGCCCCCCAGACCAGCC	0.619000														50			22		0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242373707	242373707	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:242373707C>T	uc002wbi.2	+	9	1166	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	FARP2_uc010zoq.2_Silent_p.F334F|FARP2_uc010zor.2_Silent_p.F334F	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	334					Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AAGCCGTCTTCTTCAGCCGGG	0.468000														44			49		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47274573	47274574	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:47274573_47274574CC>TT	uc003bib.3	+	4	828_829	c.662_663CC>TT	c.(661-663)tcc>tTT	p.S221F	TBC1D22A_uc010haf.3_Missense_Mutation_p.S191F|TBC1D22A_uc003bie.3_Missense_Mutation_p.S143F|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.S174F	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	221						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTGAGCTGGTCCGGAATCCCTA	0.510000														41			66		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209116179	209116179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:209116179G>A	uc002vcs.3	-	2	343	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	IDH1_uc002vct.3_Missense_Mutation_p.P33S|IDH1_uc002vcu.3_Missense_Mutation_p.P33S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	33					2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.P33S(2)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TCCACGTAGGGAAAAATGAGT	0.423000			Mis		gliobastoma									59			28		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046488	17046488	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:17046488G>A	uc001azn.1	-	0	165	c.51C>T	c.(49-51)tcC>tcT	p.S17S						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GAAGCCTCAGGGAGGGGAAGT	0.617000														97			20		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170717	113170717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:113170717G>A	uc010mtz.3	-	37	7500	c.7163C>T	c.(7162-7164)tCc>tTc	p.S2388F	SVEP1_uc010mty.3_Missense_Mutation_p.S314F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2388	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACACCAAAGGAAATTAGGGG	0.458000														6			23		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525084	112525084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:112525084C>T	uc001ebu.1	-	1	745	c.265G>A	c.(265-267)Gag>Aag	p.E89K	KCND3_uc001ebv.1_Missense_Mutation_p.E89K	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	89						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CGGAACACCTCGGGGTCCCGG	0.622000														175			55		0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	284360	284360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:284360G>A	uc010qvs.2	+	5	2332	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	NLRP6_uc010qvt.2_Missense_Mutation_p.E777K	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	778						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TATGCTGAGTGAGGGCCTAGC	0.692000														69			51		0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37076662	37076662	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:37076662G>A	uc002rpn.3	-	17	2289	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	STRN_uc010ezx.3_Silent_p.F723F	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	760					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGGATGGGTGGAAAGCTACAT	0.398000														56			41		0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12447418	12447418	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:12447418G>A	uc003bwx.3	+	4	748	c.657G>A	c.(655-657)gaG>gaA	p.E219E	PPARG_uc003bwr.3_Silent_p.E191E|PPARG_uc003bws.3_Silent_p.E191E|PPARG_uc003bwu.3_Silent_p.E191E|PPARG_uc003bwv.3_Silent_p.E191E|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Silent_p.E191E|PPARG_uc003bww.1_Silent_p.E219E	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	219	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCGAGAAGGAGAAGCTGTTGG	0.498000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							78			50		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811682	140811682	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140811682C>T	uc003lkt.2	+	0	1525	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	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_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.F452F	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	454	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			CGCCGGTCTTCCCTCAGGCCT	0.592000														7			62		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49005925	49005925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:49005925G>A	uc003gyv.3	+	6	1158	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	CWH43_uc011bzl.2_Missense_Mutation_p.E299K	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	326					GPI anchor biosynthetic process	integral to membrane		p.E326K(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTATCTTCTAGAAATATTTTT	0.423000														32			22		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50416925	50416925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:50416925C>T	uc003daq.3	-	10	1128	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	CACNA2D2_uc003dap.3_Missense_Mutation_p.V364M	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	364	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CCCTTGGCCACCATGCCCTGC	0.597000														55			45		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71334792	71334793	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:71334792_71334793GT>AG	uc010dfm.3	-	44	6452_6453	c.6452_6453AC>CT	c.(6451-6453)tac>tCT	p.Y2151S	SDK2_uc002jjt.4_Missense_Mutation_p.Y1291S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	2151					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGGGGGACGGTAGAGGGTGCT	0.599000														20			20		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16068475	16068475	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:16068475C>T	uc002gpo.3	-	5	705	c.436_splice	c.e5-1	p.D146_splice	NCOR1_uc002gpn.3_Splice_Site_p.D146_splice|NCOR1_uc002gpp.1_Splice_Site_p.D37_splice|NCOR1_uc002gpr.3_Splice_Site_p.D37_splice|NCOR1_uc002gps.2_Splice_Site_p.D146_splice|NCOR1_uc010cpb.2_Splice_Site_p.D146_splice|NCOR1_uc010coz.2_Splice_Site|NCOR1_uc010cpa.2_Splice_Site_p.D146_splice|NCOR1_uc002gpu.3_Splice_Site_p.D146_splice	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	146	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.D146Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AATGCTGGATCCTTTAGAGAA	0.393000														119			17		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70546163	70546163	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:70546163G>A	uc002ezc.3	-	4	728	c.717C>T	c.(715-717)ttC>ttT	p.F239F	COG4_uc002ezd.3_Silent_p.F239F|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	235					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GGTACTCCGAGAACTTTCTTA	0.517000														5			45		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4645012	4645012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4645012G>A	uc002fyu.2	+	1	758	c.728G>A	c.(727-729)tGg>tAg	p.W243*	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Nonsense_Mutation_p.W243*|ZMYND15_uc002fyt.2_Nonsense_Mutation_p.W243*	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	243							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTGGCTCCTTGGGCCTATGCT	0.622000														65			37		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598151	28598151	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:28598151T>A	uc002kwj.4	-	8	1304	c.1149A>T	c.(1147-1149)ttA>ttT	p.L383F	DSC3_uc002kwi.4_Missense_Mutation_p.L383F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	383	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CAGTGTTAATTAAATCCTTAT	0.318000														39			11		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100333389	100333389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100333389G>A	uc003uwj.3	+	2	265	c.100G>A	c.(100-102)Gac>Aac	p.D34N	ZAN_uc003uwk.3_Missense_Mutation_p.D34N|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.	34					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)			CAGCTCTAGGGACAACTGTGA	0.498000														20			4		0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379631	204379631	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:204379631G>A	uc001hav.4	-	0	1314	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	303					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCTGTTGAAGGAATTCCAGCC	0.532000														151			153		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351246	36351246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:36351246G>A	uc002ocb.4	+	5	933	c.721G>A	c.(721-723)Gga>Aga	p.G241R	KIRREL2_uc002obz.4_Missense_Mutation_p.G241R|KIRREL2_uc002oca.4_Missense_Mutation_p.G191R|KIRREL2_uc002ocd.4_Missense_Mutation_p.G238R	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	241	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane		p.G241R(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTGCAGGAGGGAGAGAAGGT	0.607000														89			51		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886732	119886732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:119886732G>A	uc011bjf.2	-	8	1972	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	GPR156_uc011bjg.2_Missense_Mutation_p.S527L	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	531						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGGCTCCTCTGAGTTCTCCAG	0.582000														171			68		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62149380	62149380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:62149380G>A	uc002jdz.2	-	5	552	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	147					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GATGGGCAGAGACTATCTGCA	0.463000														7			11		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45765931	45765931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:45765931C>T	uc003bgc.3	-	14	2375	c.2323G>A	c.(2323-2325)Gat>Aat	p.D775N	SMC1B_uc003bgd.3_Missense_Mutation_p.D775N|SMC1B_uc003bge.1_Missense_Mutation_p.D558N	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	775					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGGAAGATATCGTCTTCTACC	0.274000														6			11		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43584211	43584211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:43584211C>T	uc001zrf.1	-	3	529	c.524G>A	c.(523-525)aGa>aAa	p.R175K		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	175					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGTGATGAATCTTTCATGACC	0.502000														90			24		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113353703	113353703	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:113353703G>A	uc003ian.4	+	10	3227	c.3000G>A	c.(2998-3000)ggG>ggA	p.G1000G	ALPK1_uc003iap.4_Silent_p.G1000G|ALPK1_uc011cfx.2_Silent_p.G922G|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Silent_p.G828G	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1000							ATP binding|protein serine/threonine kinase activity	p.T999M(1)|p.G1000R(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGAATACGGGGGTTTTTAAGC	0.488000														59			83		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135000021	135000021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:135000021C>T	uc001llz.1	+	5	1170	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	KNDC1_uc001lma.1_Missense_Mutation_p.P325L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	390					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTGGGGTGCCCGGCAGTCCA	0.697000														10			11		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91630434	91630434	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:91630434C>T	uc003ulg.3	+	7	1428	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	AKAP9_uc003ule.2_Silent_p.V413V|AKAP9_uc003ulf.3_Silent_p.V401V|AKAP9_uc003uli.3_Silent_p.V26V	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	413	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.R400K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGGGACAGTCGAAGAACTTC	0.343000			T	BRAF	papillary thyroid									26			29		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4445943	4445943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4445943G>A	uc002fxz.4	-	20	3048	c.2986C>T	c.(2986-2988)Ccc>Tcc	p.P996S	MYBBP1A_uc002fyb.4_Missense_Mutation_p.P996S|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Missense_Mutation_p.P38S	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	996					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGAACATGGGAACTGTGAGG	0.632000														70			131		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39046751	39046751	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:39046751C>T	uc003ooj.4	+	8	963	c.903C>T	c.(901-903)tcC>tcT	p.S301S	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	301					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCAGGAACTCCAACATGAACT	0.587000														256			221		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35631958	35631958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:35631958G>A	uc003xjr.2	+	15	2948	c.2620G>A	c.(2620-2622)Gac>Aac	p.D874N	UNC5D_uc003xjs.2_Missense_Mutation_p.D869N|UNC5D_uc003xju.2_Missense_Mutation_p.D450N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	874	Death.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAAAGGCAAGGACTGGCAGAT	0.468000														23			25		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411976	40411976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40411976C>T	uc002omp.4	-	6	3660	c.3652G>A	c.(3652-3654)Gag>Aag	p.E1218K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1218	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGCCGCCCTCCTGGCAGTGG	0.682000														66			44		0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205211090	205211090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:205211090C>T	uc021pia.1	+	1	1320	c.665C>T	c.(664-666)tCc>tTc	p.S222F	TMCC2_uc010prf.2_Missense_Mutation_p.S144F	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	222						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGCTCTTCCTCCACCACCGAC	0.687000														33			29		0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184689496	184689496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:184689496C>T	uc021xik.1	+	38	3464	c.3376C>T	c.(3376-3378)Ctt>Ttt	p.L1126F	VPS8_uc003fpb.1_Missense_Mutation_p.L1124F|VPS8_uc010hyd.1_Missense_Mutation_p.L1034F|VPS8_uc010hye.1_Missense_Mutation_p.L553F	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1126							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GACCATTGCTCTTTGCCAGAG	0.393000														23			9		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69718851	69718851	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:69718851C>T	uc002exm.2	+	9	2034	c.1698C>T	c.(1696-1698)tgC>tgT	p.C566C	NFAT5_uc002exj.2_Silent_p.C490C|NFAT5_uc002exk.2_Silent_p.C490C|NFAT5_uc002exl.2_Silent_p.C584C|NFAT5_uc002exn.2_Silent_p.C583C|NFAT5_uc002exh.2_Silent_p.C359C|NFAT5_uc002exi.3_Silent_p.C490C	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	566					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAAGACCTTGCTCTTTTGAAG	0.343000														14			54		0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111896274	111896274	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:111896274G>A	uc001pmo.3	+	0	737	c.78G>A	c.(76-78)caG>caA	p.Q26Q	DLAT_uc010rwr.2_Silent_p.Q26Q|DLAT_uc021qqn.1_Missense_Mutation_p.G13R	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	26					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CGGCCTTGCAGGAGGTACCCG	0.682000														73			65		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889911	51889911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:51889911G>A	uc003pah.1	-	31	4973	c.4697C>T	c.(4696-4698)tCc>tTc	p.S1566F	PKHD1_uc003pai.3_Missense_Mutation_p.S1566F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1566	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGTGTCTGGAAACATTACC	0.458000														46			41		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293331	130293331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:130293331G>A	uc010htl.3	+	6	3540	c.3509G>A	c.(3508-3510)aGg>aAg	p.R1170K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1170	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTCAATAAAAGGATCGTTCGC	0.448000														26			24		0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54231935	54231935	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:54231935C>A	uc003gzu.3	-	0	308	c.174G>T	c.(172-174)gaG>gaT	p.E58D	SCFD2_uc010igm.3_Missense_Mutation_p.E58D	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	58					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CGGGCTCGAACTCTCGCAGGT	0.652000														104			99		3.54964e-55	3.65425e-55	1	1	0
HERC2	8924	broad.mit.edu	37	15	28519529	28519529	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:28519529G>A	uc001zbj.3	-	6	814	c.708C>T	c.(706-708)ccC>ccT	p.P236P	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	236					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCGAGGCCTCGGGAAGTGCTC	0.657000														31			24		0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81582746	81582746	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:81582746G>A	uc003yby.2	-	4	883	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	217						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ACCCCAGATGGATGGTTCGGA	0.512000														61			82		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153317847	153317847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:153317847C>T	uc001fbo.3	-	3	216	c.151G>A	c.(151-153)Gat>Aat	p.D51N	PGLYRP4_uc001fbp.3_Splice_Site_p.D47_splice	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	51					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGAGACATCTGTGGGAAGG	0.587000														117			79		0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74319582	74319583	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:74319582_74319583GG>AA	uc003hgz.1	+	12	1800_1801	c.1753_1754GG>AA	c.(1753-1755)ggc>AAc	p.G585N	AFP_uc011cbg.1_Missense_Mutation_p.G359N	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	585	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGCTGCCAAGGCCAGGAACAG	0.421000									Alpha-Fetoprotein, Hereditary Persistence of					45			19		0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95234484	95234484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:95234484G>A	uc003klr.4	-	7	1335	c.985C>T	c.(985-987)Cct>Tct	p.P329S		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	329					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTCATTAAAGGATCAATAAAC	0.393000														113			98		0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193374900	193374900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:193374900C>T	uc003ftg.3	+	22	2444	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F	OPA1_uc003fth.3_Missense_Mutation_p.S701F|OPA1_uc003fti.3_Missense_Mutation_p.S719F|OPA1_uc003ftj.3_Missense_Mutation_p.S700F|OPA1_uc003ftk.3_Missense_Mutation_p.S683F|OPA1_uc003ftl.3_Missense_Mutation_p.S664F|OPA1_uc003ftm.3_Missense_Mutation_p.S682F|OPA1_uc003ftn.3_Missense_Mutation_p.S646F	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	682					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	p.F736L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GAAGAATTTTCCCGCTTTATG	0.328000														31			10		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70919548	70919548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:70919548G>A	uc021vjc.1	-	6	957	c.692C>T	c.(691-693)cCg>cTg	p.P231L	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.P231L|ADD2_uc002sgz.3_Missense_Mutation_p.P231L|ADD2_uc010fdt.2_Missense_Mutation_p.P231L|ADD2_uc002shc.2_Missense_Mutation_p.P231L|ADD2_uc010fdu.2_Missense_Mutation_p.P247L	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	231					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCTGTGGCCGGTGTGTGCAG	0.587000														56			8		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524701	161524701	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:161524701A>C	uc010jjc.3	+	3	743	c.385A>C	c.(385-387)Aac>Cac	p.N129H	GABRG2_uc003lyy.4_Missense_Mutation_p.N129H|GABRG2_uc003lyz.4_Missense_Mutation_p.N129H|GABRG2_uc011dej.2_Missense_Mutation_p.N34H	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	129					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TTTGAAATTTAACAGCACCAT	0.353000														44			48		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50950946	50950946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:50950946G>A	uc009xog.3	-	13	2055	c.2021C>T	c.(2020-2022)gCc>gTc	p.A674V	OGDHL_uc001jie.3_Missense_Mutation_p.A647V|OGDHL_uc010qgt.2_Missense_Mutation_p.A590V|OGDHL_uc010qgu.2_Missense_Mutation_p.A438V|OGDHL_uc009xoh.2_Missense_Mutation_p.A438V	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	647					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGAGCCAAAGGCCATGTACTC	0.642000														31			35		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348031	38348031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38348031G>A	uc003cib.2	+	0	587	c.514G>A	c.(514-516)Gag>Aag	p.E172K	SLC22A14_uc010hhc.1_Missense_Mutation_p.E172K|SLC22A14_uc003cia.2_Missense_Mutation_p.E172K|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	172						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCTGATCAATGAGGTATGTCT	0.498000														158			36		0	0	1	0	0
TRIM44	54765	broad.mit.edu	37	11	35747489	35747489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:35747489G>A	uc001mwi.2	+	2	1072	c.765G>A	c.(763-765)atG>atA	p.M255I		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	Homo sapiens tripartite motif containing 44 (TRIM44), mRNA.	255						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				GGGACCAAATGAAGATGTTTA	0.408000														24			17		0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29695761	29695761	+	Silent	SNP	C	T	T	rs111270799	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:29695761C>T	uc003aet.3	+	15	2179	c.1851C>T	c.(1849-1851)ggC>ggT	p.G617G	EWSR1_uc003aev.3_Silent_p.G622G|EWSR1_uc003aex.3_Silent_p.G616G|EWSR1_uc003aew.3_Silent_p.G561G|EWSR1_uc003aey.3_Silent_p.G412G|EWSR1_uc003aez.3_Silent_p.G278G	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	617	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GACGAGGTGGCCCTGGGGGGC	0.597000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									5			11		0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71528294	71528294	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:71528294G>A	uc011cse.2	-	7	645	c.609C>T	c.(607-609)tgC>tgT	p.C203C	MRPS27_uc003kca.4_Silent_p.C133C|MRPS27_uc003kbz.4_Silent_p.C189C|MRPS27_uc010iza.3_Silent_p.C133C|MRPS27_uc010iyz.1_Non-coding_Transcript	NM_015084	NP_055899	Q92552	RT27_HUMAN	Homo sapiens mitochondrial ribosomal protein S27 (MRPS27), nuclear gene encoding mitochondrial protein, mRNA.	189						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TCTTTGCCAGGCAATGAAATA	0.418000														32			24		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279071	152279071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:152279071C>T	uc001ezu.1	-	2	8327	c.8291G>A	c.(8290-8292)gGa>gAa	p.G2764E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2764	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGCGGGATCCTTGTCTTCC	0.577000									Ichthyosis					359			90		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34554741	34554741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:34554741C>T	uc001bxm.1	-	1	418	c.241G>A	c.(241-243)Ggg>Agg	p.G81R	CSMD2_uc001bxn.1_Missense_Mutation_p.G41R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	41	CUB 1.					integral to membrane|plasma membrane	protein binding	p.S81L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TATGGGAACCCTGGGCTCTCA	0.537000														66			20		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79410078	79410078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:79410078C>T	uc002kaf.2	+	3	1517	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	568							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			AAGCGCAAGTCCCTGGAGCTG	0.701000														73			43		0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154247884	154247884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:154247884C>T	uc010peo.2	+	5	864	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	HAX1_uc001fet.3_Missense_Mutation_p.R179W|HAX1_uc001fes.3_Missense_Mutation_p.R227W|HAX1_uc009wou.3_Missense_Mutation_p.R152W	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	227	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGAGCGCCGGACTGTGGT	0.498000									Kostmann syndrome					177			86		0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412543	154412543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:154412543G>A	uc011efe.2	+	4	1902	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	OPRM1_uc011efd.2_Missense_Mutation_p.R267Q|OPRM1_uc011efc.1_Missense_Mutation_p.R286Q|OPRM1_uc003qpn.2_Missense_Mutation_p.R367Q|OPRM1_uc003qpo.1_Missense_Mutation_p.R367Q|OPRM1_uc011eff.1_Missense_Mutation_p.R367Q|OPRM1_uc011efg.1_Missense_Mutation_p.R367Q|OPRM1_uc011efi.2_Missense_Mutation_p.R367Q|OPRM1_uc011efh.1_Missense_Mutation_p.R367Q|OPRM1_uc003qpq.1_Missense_Mutation_p.R367Q|OPRM1_uc003qpr.2_Missense_Mutation_p.R367Q|OPRM1_uc003qpt.1_Missense_Mutation_p.R367Q|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.R267Q|OPRM1_uc003qpu.2_Missense_Mutation_p.R267Q	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	367					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R367L(2)|p.R460L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AACTCCACTCGAATTCGTCAG	0.443000														29			34		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41820202	41820202	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:41820202G>A	uc001zod.3	-	10	1408	c.1284C>T	c.(1282-1284)gaC>gaT	p.D428D		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	428						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGCTAGCCGGTCCCCAAACT	0.542000														43			21		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203620270	203620270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:203620270C>T	uc010zhx.2	+	4	980	c.970C>T	c.(970-972)Cca>Tca	p.P324S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	324										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GGCTCCTGTTCCAAAGAGTGC	0.398000														98			55		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102239	66102239	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:66102239C>T	uc001dci.3	+	19	3428	c.3039C>T	c.(3037-3039)ttC>ttT	p.F1013F	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	1013					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCAAGTGCTTCTCTAGCAAAA	0.403000														39			14		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264888	48264888	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:48264888C>G	uc002iqm.3	-	45	3506	c.3380G>C	c.(3379-3381)gGt>gCt	p.G1127A		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1127	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCTTGTTCACCAGGAGAGCC	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							89			14		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111398779	111398779	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:111398779C>T	uc003vfy.3	-	41	4607	c.4338G>A	c.(4336-4338)ccG>ccA	p.P1446P	DOCK4_uc011kml.2_Silent_p.P282P|DOCK4_uc011kmm.2_Silent_p.P308P|DOCK4_uc003vfw.3_Silent_p.P851P|DOCK4_uc003vfx.3_Silent_p.P1401P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1401	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGATGTTGTCCGGAACACCCT	0.438000														21			18		0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090600	115090600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:115090600C>T	uc001vuv.3	+	2	1615	c.1283C>T	c.(1282-1284)cCa>cTa	p.P428L	CHAMP1_uc010tko.2_Missense_Mutation_p.P428L|CHAMP1_uc010ahb.3_Missense_Mutation_p.P428L|CHAMP1_uc021rmx.1_Missense_Mutation_p.P428L	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	428	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										CCACTATCCCCAGAGATCCGT	0.547000														77			70		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49087451	49087451	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:49087451C>T	uc004dnb.3	-	4	444	c.382_splice	c.e4-1	p.E128_splice	CACNA1F_uc010nip.3_Splice_Site_p.E128_splice	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	128					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TCCACCTGCTCCTGGGGGTGG	0.637000														1			23		0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59931274	59931274	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:59931274C>T	uc002lil.3	+	16	2618	c.2403C>T	c.(2401-2403)atC>atT	p.I801I	KIAA1468_uc002lik.1_Silent_p.I801I|KIAA1468_uc010xel.2_Silent_p.I801I|KIAA1468_uc002lim.3_Silent_p.I445I	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	801							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCACTATTATCGGAAGTCGTG	0.438000														23			26		0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010865	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:59010864_59010865GG>AA	uc002qtc.2	-	6	1771_1772	c.1661_1662CC>TT	c.(1660-1662)acc>aTT	p.T554I	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGAG	0.658000														41			31		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163495	139163495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:139163495C>T	uc003yuy.3	-	12	3394	c.3223G>A	c.(3223-3225)Gga>Aga	p.G1075R	FAM135B_uc003yux.3_Missense_Mutation_p.G976R|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G637R|FAM135B_uc003yvb.3_Missense_Mutation_p.G637R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1075										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAACAACTCCAAAGGATCCC	0.512000										HNSCC(54;0.14)				54			16		0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173939703	173939703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:173939703C>T	uc010pmt.2	-	7	1361	c.1274G>A	c.(1273-1275)aGa>aAa	p.R425K	RC3H1_uc001gju.4_Missense_Mutation_p.R425K|RC3H1_uc010pms.2_Missense_Mutation_p.R425K|RC3H1_uc001gjv.3_Missense_Mutation_p.R425K	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	425					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCATCCTCCTCTCTGCTTCAT	0.428000														135			129		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168066367	168066367	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:168066367G>A	uc010pln.2	-	3	1072	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	GPR161_uc001gfb.3_Silent_p.L28L|GPR161_uc001gfc.3_Silent_p.L160L|GPR161_uc010pll.2_Silent_p.L70L|GPR161_uc010plm.2_Silent_p.L46L|GPR161_uc009wvo.3_Silent_p.L177L|GPR161_uc001gfd.3_Silent_p.L160L|GPR161_uc001gfe.1_Silent_p.L160L	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	160					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGGGGTGGCAGGCAGCCGATG	0.572000														87			41		0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3801800	3801800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:3801800G>A	uc002fww.3	-	9	1451	c.1010C>T	c.(1009-1011)tCt>tTt	p.S337F		NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	337	Pore-forming motif (Potential).				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GCCAATTCCAGAGCCGATGGT	0.592000														64			20		0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	871159	871159	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:871159G>A	uc001ifs.1	-	11	1371	c.1330C>T	c.(1330-1332)Cga>Tga	p.R444*		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	444							RNA binding|nucleotide binding	p.R444*(4)|p.R444Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTAATTAATCGATCTGCAGTG	0.463000														21			74		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62189441	62189441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:62189441G>A	uc003dlb.3	+	11	2691	c.1972G>A	c.(1972-1974)Gga>Aga	p.G658R	PTPRG_uc003dlc.3_Missense_Mutation_p.G658R	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	658					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCAGACGGGCGGAAGGAGGGA	0.647000														12			13		0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133451023	133451023	+	Silent	SNP	G	A	A	rs140392908	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:133451023G>A	uc003kyt.3	+	1	457	c.261G>A	c.(259-261)cgG>cgA	p.R87R	TCF7_uc003kyv.3_5'Flank|TCF7_uc003kyw.3_5'Flank|TCF7_uc003kyu.2_5'Flank|TCF7_uc003kyy.3_5'Flank|TCF7_uc003kyx.3_5'Flank|TCF7_uc003kyz.3_5'Flank|TCF7_uc003kza.3_5'Flank	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	87					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCGGGCGGGAACACGCTG	0.721000														9			6		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520260	84520260	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:84520260C>T	uc004eeq.3	+	6	1802	c.916_splice	c.e6+1	p.S306_splice	ZNF711_uc004eep.3_Splice_Site_p.R306_splice|ZNF711_uc004eeo.3_Splice_Site_p.R306_splice|ZNF711_uc011mqy.1_Splice_Site	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	306					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAGATGATATCAGTAAGAAAA	0.393000														3			26		0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112022406	112022406	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:112022406C>T	uc004epr.3	-	9	2994	c.2976G>A	c.(2974-2976)gcG>gcA	p.A992A	AMOT_uc004eps.3_Silent_p.A583A|AMOT_uc011mtc.1_Silent_p.A232A	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	992					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AAGCCTGAGCCGCTGCTGGAG	0.622000														2			20		0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119575764	119575764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:119575764G>A	uc001ehn.3	-	5	881	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F	WARS2_uc010oxf.2_Missense_Mutation_p.L191F|WARS2_uc001ehm.3_3'UTR|WARS2_uc010oxg.2_Missense_Mutation_p.L228F|WARS2_uc010oxh.2_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	285					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TCCACGGAGAGCCCCGTCACC	0.627000														43			90		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023594	76023594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:76023594C>T	uc010kbe.3	-	5	2493	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	FILIP1_uc003phy.1_Missense_Mutation_p.D652N|FILIP1_uc003phz.3_Missense_Mutation_p.D553N|FILIP1_uc003pia.3_Missense_Mutation_p.D652N|FILIP1_uc003pib.1_Missense_Mutation_p.D404N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	652										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCATCAAATCCCCTTCGACC	0.418000														190			72		0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678703	130678703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:130678703G>A	uc011muw.2	+	0	656	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R219*(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCCTACATACGAATTGCTATG	0.483000														11			144		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096626	167096626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:167096626G>A	uc001geb.1	+	4	2274	c.2258G>A	c.(2257-2259)aGc>aAc	p.S753N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	753					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCTGTTGCAAGCATGAAGGCA	0.542000														109			65		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140905	143140905	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:143140905G>A	uc011ktg.2	+	0	360	c.360G>A	c.(358-360)gtG>gtA	p.V120V	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	120					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTATTGTGTGAAAATTGCTA	0.502000														84			106		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102824932	102824932	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:102824932C>G	uc001phl.3	-	3	619	c.590G>C	c.(589-591)gGa>gCa	p.G197A		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	197					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)		ATGGGCATCTCCTCCATAATT	0.423000														39			7		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727965	181727965	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:181727965C>T	uc009wxt.3	+	31	4761	c.4566C>T	c.(4564-4566)tcC>tcT	p.S1522S	CACNA1E_uc001gow.3_Silent_p.S1522S|CACNA1E_uc009wxs.3_Silent_p.S1503S|CACNA1E_uc001gox.1_Silent_p.S748S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1522					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGTGTTTTCCCTGGAATGTG	0.478000														48			40		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11400710	11400711	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:11400710_11400711GG>AA	uc001mjo.2	-	3	1117_1118	c.696_697CC>TT	c.(694-699)atccgc>atTTgc	p.R233C		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	233	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		ACCCTGGAGCGGATGAGGCCTT	0.584000														36			23		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004786	42004786	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:42004786G>A	uc011kbh.2	-	14	3976	c.3885C>T	c.(3883-3885)ttC>ttT	p.F1295F	GLI3_uc011kbg.2_Silent_p.F1236F	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1295					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCGGCAGGCCGAAATTCAGCT	0.632000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					47			53		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75938336	75938336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:75938336G>A	uc003hih.2	+	1	998	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	249					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GATCATGCAGGAAGTAGAACA	0.463000														54			14		0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157818074	157818074	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:157818074T>A	uc003fbs.3	-	3	793	c.654A>T	c.(652-654)aaA>aaT	p.K218N	SHOX2_uc003fbr.3_Missense_Mutation_p.K194N|SHOX2_uc010hvw.3_Missense_Mutation_p.K194N	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	194					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTTTTCTACATTTAGCTCTTC	0.294000														68			26		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43237099	43237099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43237099C>T	uc002oue.3	-	2	678	c.546G>A	c.(544-546)atG>atA	p.M182I	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	182	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCTGACCATTCATCCACCACA	0.512000														204			163		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10215381	10215381	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:10215381A>G	uc002gmk.1	-	31	4468	c.4378T>C	c.(4378-4380)Tgg>Cgg	p.W1460R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1460					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTTGCTTCCACTCTGCAAGG	0.507000														40			19		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593744	11593744	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:11593744G>T	uc002gne.3	+	19	4673	c.4605G>T	c.(4603-4605)caG>caT	p.Q1535H	DNAH9_uc010coo.3_Missense_Mutation_p.Q829H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1535	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCGGGCACAGCTACCCCAGG	0.488000														30			17		2.39187e-15	2.42022e-15	1	1	0
OR6K6	128371	broad.mit.edu	37	1	158725283	158725283	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:158725283G>A	uc001fsw.1	+	0	678	c.678G>A	c.(676-678)gtG>gtA	p.V226V		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGTCATTGTGGATGCCATCC	0.483000														48			31		0	0	1	0	0
LCAT	3931	broad.mit.edu	37	16	67974200	67974200	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:67974200G>A	uc002euy.1	-	5	941	c.930C>T	c.(928-930)caC>caT	p.H310H		NM_000229	NP_000220	P04180	LCAT_HUMAN	Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.	310					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CTTCCTCAAAGTGCAGGTCTG	0.572000														13			80		0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135534100	135534100	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:135534100G>A	uc004cbq.1	-	5	1013	c.861C>T	c.(859-861)atC>atT	p.I287I	DDX31_uc010mzu.1_Silent_p.I287I|DDX31_uc004cbr.1_Silent_p.I287I|DDX31_uc004cbs.2_Silent_p.I287I	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	287	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGACCACAGGGATGCAATAGG	0.373000														10			50		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49447822	49447822	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:49447822G>A	uc001rta.4	-	4	612	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	204					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						TCATGGATAGGAAGGAACCGC	0.582000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				4			36		0	0	1	0	0
RBKS	64080	broad.mit.edu	37	2	28113153	28113153	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:28113153C>T	uc002rlo.1	-	0	71	c.60G>A	c.(58-60)gtG>gtA	p.V20V	BRE_uc002rlp.1_5'Flank|BRE_uc002rlq.3_5'Flank|BRE_uc002rlr.3_5'Flank|BRE_uc002rls.3_5'Flank|BRE_uc002rlt.3_5'Flank|BRE_uc002rlu.3_5'Flank|RBKS_uc010ezi.1_5'UTR|RBKS_uc010ymg.2_Silent_p.V20V|RBKS_uc010ymh.2_Non-coding_Transcript	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	Homo sapiens ribokinase (RBKS), mRNA.	20					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCCACCACTACCACCG	0.667000														69			54		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25442804	25442804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:25442804C>T	uc001upr.3	+	30	4269	c.4228C>T	c.(4228-4230)Cca>Tca	p.P1410S	RNF17_uc010tde.2_Missense_Mutation_p.P1406S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P1349S|RNF17_uc010aac.3_Missense_Mutation_p.P602S|RNF17_uc010aad.3_Missense_Mutation_p.P420S	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1410					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTGCCTTCCCCAGGAGAACT	0.373000														118			80		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142639585	142639585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142639585C>T	uc003wcb.3	-	17	2183	c.1973G>A	c.(1972-1974)gGg>gAg	p.G658E		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	658					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GACAGTCTCCCCATGGTGCCG	0.597000														19			9		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34022609	34022609	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:34022609G>A	uc002yqh.2	-	22	3039	c.3039C>T	c.(3037-3039)atC>atT	p.I1013I	SYNJ1_uc011ads.1_Silent_p.I969I|SYNJ1_uc002yqf.2_Silent_p.I974I|SYNJ1_uc002yqg.2_Silent_p.I969I|SYNJ1_uc002yqi.2_Silent_p.I1013I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	974	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCAAATTTTTGATCCAGTCTG	0.348000														126			42		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4927260	4927261	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:4927260_4927261AG>GA	uc002gan.2	+	22	3483_3484	c.3126_3127AG>GA	c.(3124-3129)ggagcg>ggGAcg	p.A1043T		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	1043	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GATCCCGGGGAGCGGGTTCTGC	0.688000														53			29		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30885747	30885747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:30885747C>T	uc003cep.2	-	7	788	c.741G>A	c.(739-741)atG>atA	p.M247I	GADL1_uc003ceq.1_Missense_Mutation_p.M247I	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	247					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CCTCAGGTATCATTTTACCTC	0.438000														84			64		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363477	22363477	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:22363477G>A	uc002nqs.1	-	2	1360	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTGAGGATCGATTAAAAGCT	0.413000														87			4		0	0	1	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696573	112696573	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:112696573T>C	uc010qrh.1	-	0	441	c.419A>G	c.(418-420)cAc>cGc	p.H140R	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.H140R(2)									GTGAGCCAGGTGCCCCAGATA	0.537000														11			6		0	0	1	0	0
CNPY1	285888	broad.mit.edu	37	7	155301711	155301711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:155301711C>T	uc003wmc.1	-	1	167	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K		NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	Homo sapiens canopy 1 homolog (zebrafish) (CNPY1), mRNA.	8										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACAGGGTCTTCCTCAAGCTTG	0.428000														46			51		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156476796	156476796	+	Silent	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:156476796T>A	uc010lqn.3	-	17	1787	c.1572A>T	c.(1570-1572)gtA>gtT	p.V524V	LMBR1_uc003wmv.4_Silent_p.V277V|LMBR1_uc003wmw.4_Silent_p.V483V|LMBR1_uc003wmx.4_Silent_p.V331V|LMBR1_uc011kvx.2_Silent_p.V408V	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	483						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GATGCCCATTTACAGAAGGCT	0.433000														81			128		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179689405	179689405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:179689405C>T	uc003fki.1	-	1	200	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Missense_Mutation_p.E24K|PEX5L_uc010hxd.1_Intron|PEX5L_uc011bqg.1_Intron|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	24					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			acaattatttcgaggtcttca	0.313000														14			10		0	0	1	0	0
DUS4L	11062	broad.mit.edu	37	7	107217950	107217950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:107217950C>T	uc003veh.3	+	7	1232	c.899C>T	c.(898-900)gCt>gTt	p.A300V	DUS4L_uc011klw.2_Non-coding_Transcript|DUS4L_uc011klx.2_Missense_Mutation_p.A179V|DUS4L_uc022ajw.1_Missense_Mutation_p.A179V|DUS4L_uc010ljl.3_Missense_Mutation_p.A210V|BCAP29_uc003vej.2_5'Flank|BCAP29_uc011kly.1_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.	300					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						GTATTTAATGCTCTGTCAAGC	0.353000														71			31		0	0	1	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38102879	38102879	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:38102879A>C	uc002ogq.3	+	4	1065	c.698A>C	c.(697-699)cAt>cCt	p.H233P	LOC100507433_uc002ogu.3_Missense_Mutation_p.H233P|LOC100507433_uc010efq.3_Missense_Mutation_p.H201P	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		CTTACTCTGCATCAGAGATTT	0.363000														35			17		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24896233	24896233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:24896233C>T	uc003aaf.3	+	1	1558	c.263C>T	c.(262-264)cCt>cTt	p.P88L	UPB1_uc003aae.3_Intron	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	88	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GCAAATGCCCCTGTGGCAGAA	0.577000														60			30		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940221	144940221	+	Silent	SNP	G	A	A	rs71520550		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:144940221G>A	uc003zaa.1	-	0	7214	c.7201C>T	c.(7201-7203)Ctg>Ttg	p.L2401L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2401						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)			GCCCTCTGCAGAAGCTGCAGG	0.592000														117			38		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116941601	116941601	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:116941601C>T	uc001ege.3	+	16	2682	c.2343C>T	c.(2341-2343)acC>acT	p.T781T	ATP1A1_uc010owv.1_Silent_p.T750T|ATP1A1_uc010oww.2_Silent_p.T781T|ATP1A1_uc010owx.2_Silent_p.T750T|ATP1A1OS_uc009whb.2_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	781					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)	ATACCTTAACCAGTAACATTC	0.413000														128			39		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183491520	183491520	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:183491520C>A	uc003fly.2	+	16	2501	c.2306C>A	c.(2305-2307)tCa>tAa	p.S769*	YEATS2_uc003flz.3_5'Flank	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	769					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAGAACCCTTCAGGAAAAGGA	0.463000														48			12		0.000219431	0.000220435	1	1	0
CDC42EP1	11135	broad.mit.edu	37	22	37964254	37964254	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:37964254C>T	uc003asz.4	+	2	1006	c.603C>T	c.(601-603)gaC>gaT	p.D201D		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	201					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					TGGACCTCGACCTTGGGCCCT	0.657000														81			104		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33800122	33800122	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:33800122C>T	uc002kzq.4	+	8	1925	c.1902C>T	c.(1900-1902)ctC>ctT	p.L634L		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	634					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding	p.R633L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AACCCCGGCTCTGCCTGATCC	0.532000														69			17		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73070984	73070984	+	RNA	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:73070984C>T	uc004ebm.1	-	0		c.1605G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ATGCAGCAATCCAGCACTGTC	0.512000														22			319		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179654825	179654825	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179654825C>T	uc021vsy.1	-	11	2043	c.1818G>A	c.(1816-1818)agG>agA	p.R606R	TTN_uc021vsz.1_Silent_p.R560R|TTN_uc021vta.1_Silent_p.R560R|TTN_uc021vtb.1_Silent_p.R560R|TTN_uc002unb.2_Silent_p.R606R|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	606							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTGTTTTCCTAGTTTCCT	0.313000														29			21		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61748751	61748751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:61748751C>T	uc003xue.3	+	15	4390	c.3898C>T	c.(3898-3900)Cca>Tca	p.P1300S	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1300	Helicase C-terminal.				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)			CAAGCTGCTGCCAAAACTGAA	0.502000														24			14		0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16455387	16455387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:16455387G>A	uc021trd.1	-	5	2687	c.2069C>T	c.(2068-2070)tCa>tTa	p.S690L	ZNF287_uc002gqi.2_Missense_Mutation_p.S690L	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	683					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTGATTAAGTGATGAGGAATA	0.363000														44			16		0	0	1	0	0
AK092965	0	broad.mit.edu	37	17	40468730	40468730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:40468730G>A	uc010cyf.1	-	0	140	c.116C>T	c.(115-117)aCc>aTc	p.T39I	STAT3_uc002hzk.1_Intron|STAT3_uc002hzl.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron|STAT3_uc021txs.1_5'Flank					Homo sapiens cDNA FLJ35646 fis, clone SPLEN2012743.																		CCAGCTCTCGGTGTGTACATG	0.468000														17			5		0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212554	100212554	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100212554G>A	uc003uvq.3	+	4	778	c.576G>A	c.(574-576)gtG>gtA	p.V192V	MOSPD3_uc003uvr.3_Silent_p.V192V|MOSPD3_uc003uvs.3_Silent_p.V192V|MOSPD3_uc003uvt.3_Silent_p.V182V	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	192						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTGTGTCTGTGGCCTTCCTGC	0.612000														124			179		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81219192	81219192	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:81219192G>A	uc002fgh.1	-	10	1902	c.1902C>T	c.(1900-1902)acC>acT	p.T634T	PKD1L2_uc002fgj.3_Silent_p.T634T	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	634	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAGGCGCAGGGTGACAGCAG	0.637000														4			55		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565289	58565289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:58565289G>A	uc002qrc.1	+	5	1344	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	366					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCAGGGATGGAGCCCAGGGC	0.662000														28			23		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015685	41015685	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:41015685G>A	uc003gvn.3	-	5	1380	c.750C>T	c.(748-750)atC>atT	p.I250I	APBB2_uc003gvl.3_Silent_p.I250I|APBB2_uc003gvm.3_Silent_p.I250I|APBB2_uc011byt.1_Silent_p.I233I	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	250					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.I250I(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCAGGTTCTGGATCCGGTGCA	0.587000														266			328		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847728	22847728	+	Silent	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:22847728A>G	uc002nqw.3	+	3	1501	c.1257A>G	c.(1255-1257)aaA>aaG	p.K419K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CTGGAGAGAAACCCTACAAAT	0.373000														110			3		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119735494	119735494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:119735494G>A	uc002tln.1	+	7	881	c.749G>A	c.(748-750)gGa>gAa	p.G250E	MARCO_uc010yyf.1_Missense_Mutation_p.G172E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	250	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGAGAAAGGAGACCTGGGT	0.597000														11			5		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739366	38739366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38739366C>T	uc003ciq.3	-	26	5345	c.5345G>A	c.(5344-5346)cGa>cAa	p.R1782Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1782					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGTATATTTCGATTGGGTTT	0.473000														56			33		0	0	1	0	0
MRPL45P2	653479	broad.mit.edu	37	17	45560407	45560407	+	RNA	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:45560407G>A	uc002ilp.2	-	3		c.585C>T			MRPL45P2_uc002ilq.3_Non-coding_Transcript					Homo sapiens mitochondrial ribosomal protein L45 pseudogene 2 (MRPL45P2), non-coding RNA.																		GCTTTTTCAGGGAAGTCCTTT	0.343000														53			33		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892178	16892178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:16892178G>A	uc009vos.1	-	26	3902	c.3014C>T	c.(3013-3015)tCc>tTc	p.S1005F	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1005	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGCATAAAAGGAACTTCCATA	0.453000														915			19		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14839148	14839148	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:14839148C>T	uc001rcd.3	-	2	479	c.342G>A	c.(340-342)cgG>cgA	p.R114R	GUCY2C_uc009zhz.2_Silent_p.R114R	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	114			R -> Q (in dbSNP:rs56275235).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CACAGCCCATCCGTTGTGCAT	0.438000														33			21		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49052332	49052332	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49052332G>T	uc003cvj.2	+	5	3205	c.3067G>T	c.(3067-3069)Gag>Tag	p.E1023*	WDR6_uc011bby.1_Nonsense_Mutation_p.E471*|WDR6_uc010hkn.2_Nonsense_Mutation_p.E967*|WDR6_uc011bbz.1_Nonsense_Mutation_p.E942*	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	993					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCCCACCCGTGAGGGCCACCA	0.597000														155			130		3.00498e-84	3.09977e-84	1	1	0
HRNR	388697	broad.mit.edu	37	1	152185671	152185671	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:152185671A>G	uc001ezt.1	-	2	8510	c.8434T>C	c.(8434-8436)Tat>Cat	p.Y2812H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2812					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTTGCAATAAGAATACCCA	0.483000														175			6		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54101512	54101512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:54101512C>T	uc002rxp.2	-	42	5120	c.5064G>A	c.(5062-5064)tgG>tgA	p.W1688*	PSME4_uc010yop.1_Nonsense_Mutation_p.W1574*|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Nonsense_Mutation_p.W1063*|PSME4_uc010fbv.1_Nonsense_Mutation_p.W832*|PSME4_uc010fbt.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1688					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTATAACCAGCCACCTGATAT	0.368000														59			46		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735466	55735466	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55735466G>A	uc010rit.2	-	0	474	c.474C>T	c.(472-474)ccC>ccT	p.P158P		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L157F(1)|p.P158L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCGCAAAAGGGCAAAAGGA	0.393000														57			10		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900343	123900343	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:123900343G>C	uc001pzp.1	+	0	14	c.14G>C	c.(13-15)aGc>aCc	p.S5T		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCAACGCCAGCCTACTGACA	0.527000														208			5		0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103563995	103563995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:103563995G>A	uc003ykt.2	+	0	148	c.40G>A	c.(40-42)Gac>Aac	p.D14N		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	14					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGTCAGAAGGGACATAAAGAA	0.473000														76			23		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846798	123846798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:123846798C>T	uc001lfv.3	+	3	5143	c.4783C>T	c.(4783-4785)Cct>Tct	p.P1595S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P1595S|TACC2_uc010qtv.2_Missense_Mutation_p.P1595S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1595						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGACAGAATTCCTTCTGGAAA	0.582000														27			39		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196965187	196965187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:196965187G>A	uc001gts.4	+	5	954	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	276	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCTGAACTCGAGTACGGTTA	0.348000														80			48		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058095	9058095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9058095G>A	uc002mkp.3	-	2	29555	c.29351C>T	c.(29350-29352)cCa>cTa	p.P9784L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9786	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCAAATTTGGAGATGAACT	0.478000														38			39		0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197881	204197881	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:204197881T>C	uc001hau.3	-	19	3177	c.2860A>G	c.(2860-2862)Atc>Gtc	p.I954V		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	954										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGTGTCTTGATCCTCTCCACC	0.547000														71			36		0	0	1	0	0
STX19	415117	broad.mit.edu	37	3	93734101	93734101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:93734101G>A	uc003drh.1	-	1	270	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	ARL13B_uc003drc.3_Intron|ARL13B_uc010hop.3_Intron|ARL13B_uc003drf.3_Intron|ARL13B_uc003drg.3_Intron|ARL13B_uc003drd.3_Intron|ARL13B_uc003dre.3_Intron|STX19_uc021xbj.1_Missense_Mutation_p.L5F	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	Homo sapiens syntaxin 19 (STX19), mRNA.	5					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						AGTTCTTGAAGTCGGTCTTTC	0.383000														43			33		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6424307	6424307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:6424307C>T	uc001qnr.3	+	3	579	c.431C>T	c.(430-432)tCc>tTc	p.S144F	PLEKHG6_uc001qns.3_Missense_Mutation_p.S144F|PLEKHG6_uc010sew.2_Missense_Mutation_p.S144F|PLEKHG6_uc010sex.2_Missense_Mutation_p.S112F	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	144					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATCGAGAAGTCCTGGAGGGAG	0.607000														48			41		0	0	1	0	0
YPEL3	83719	broad.mit.edu	37	16	30106190	30106190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:30106190C>T	uc002dwl.3	-	2	1022	c.304G>A	c.(304-306)Gag>Aag	p.E102K	BOLA2_uc010bzb.1_Intron|TBX6_uc010veh.2_5'Flank|TBX6_uc002dwk.1_5'Flank|YPEL3_uc002dwm.3_Missense_Mutation_p.E64K|YPEL3_uc002dwn.1_Missense_Mutation_p.E102K|AK097453_uc002dwo.2_5'Flank	NM_031477	NP_001138996	P61236	YPEL3_HUMAN	Homo sapiens yippee-like 3 (Drosophila) (YPEL3), transcript variant 1, mRNA.	64						nucleolus				endometrium(1)|lung(2)	3						AGCACCCGCTCCTCGGCTGGC	0.637000														15			100		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676348	20676348	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:20676348C>T	uc001mqd.3	+	15	2601	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P	SLC6A5_uc009yic.3_Silent_p.P541P	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	776					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P776P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGATCGACCCCTTGGGAACCT	0.557000														166			136		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95733109	95733109	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:95733109C>T	uc003kls.2	-	11	1892	c.1653G>A	c.(1651-1653)tgG>tgA	p.W551*	PCSK1_uc010jbi.2_Nonsense_Mutation_p.W241*|PCSK1_uc021ybq.1_Nonsense_Mutation_p.W504*	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	551					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACATGAAGTCCCAATTCTTAA	0.393000														34			32		0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44384217	44384217	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:44384217C>T	uc002oxs.4	-	0	72	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ACAAATCCCTCTGATCCGAGT	0.383000														142			27		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771076	37771076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:37771076C>T	uc003asq.4	-	2	1285	c.499G>A	c.(499-501)Gac>Aac	p.D167N	ELFN2_uc021wph.1_Missense_Mutation_p.D167N	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	167						cell surface|integral to membrane		p.L166V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTGGCACCGTCCAGGCGGCTG	0.647000														65			101		0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114322124	114322124	+	Silent	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:114322124C>A	uc010tkf.2	+	0	528	c.423C>A	c.(421-423)atC>atA	p.I141I		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	141	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTGTGGAGATCCAGGACGGGC	0.627000														11			8		5.16669e-11	5.21761e-11	1	1	0
GABRA3	2556	broad.mit.edu	37	X	151336913	151336913	+	Silent	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:151336913G>T	uc010ntk.1	-	9	1506	c.1266C>A	c.(1264-1266)ccC>ccA	p.P422P		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	422					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGAGGCACTGGGAGCAGCGC	0.542000														167			13		3.41278e-10	3.44415e-10	1	1	0
ROM1	6094	broad.mit.edu	37	11	62380861	62380861	+	Silent	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62380861C>A	uc001ntv.3	+	0	649	c.108C>A	c.(106-108)ctC>ctA	p.L36L	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA.	36					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GCGTCATCCTCCTCTGTAGTG	0.687000														17			14		1.64113e-05	1.6508e-05	1	1	0
KIF9	64147	broad.mit.edu	37	3	47284690	47284690	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:47284690C>T	uc010hjp.3	-	16	2164	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	KIF9_uc003cqx.3_Silent_p.K520K|KIF9_uc003cqy.3_Intron|KIF9_uc011bat.1_Intron|FLJ39534_uc003cqw.2_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	520					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AATCCAAGTCCTTCCCATTCA	0.542000														37			32		0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104160128	104160129	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:104160128_104160129GG>AA	uc001kvb.3	+	15	1943_1944	c.1678_1679GG>AA	c.(1678-1680)gga>AAa	p.G560K	NFKB2_uc001kva.3_Missense_Mutation_p.G560K|NFKB2_uc001kvd.3_Missense_Mutation_p.G560K|NFKB2_uc009xxc.3_Missense_Mutation_p.G560K	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	560					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GGATCGGCATGGAGACTCAGCC	0.653000			T	IGH@	B-NHL									79			36		0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99958081	99958081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:99958081G>A	uc003ppx.2	-	1	549	c.16C>T	c.(16-18)Cca>Tca	p.P6S	USP45_uc003ppw.2_5'Flank|USP45_uc010kcq.2_Missense_Mutation_p.P6S|USP45_uc003pqa.3_Missense_Mutation_p.P6S	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	6					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GCTTTAGTTGGATCTTTCACC	0.308000														100			36		0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230807279	230807279	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:230807279T>A	uc001htw.3	+	7	943	c.792T>A	c.(790-792)ttT>ttA	p.F264L	COG2_uc001htx.3_Missense_Mutation_p.F264L|COG2_uc010pwc.2_Missense_Mutation_p.F137L	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	264					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TAGAGCAGTTTGTTGAATCTC	0.358000														36			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202658	140202658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140202658C>T	uc003lhl.2	+	0	1298	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S433L|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S433L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	448	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.637000														36			195		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111137338	111137338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:111137338G>A	uc001vqx.3	+	32	3278	c.2989G>A	c.(2989-2991)Ggg>Agg	p.G997R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	997	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)			AGGAGATGAAGGGCCTATGGG	0.617000														42			5		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987384	22987384	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:22987384C>T	uc001bgd.3	+	2	399	c.267C>T	c.(265-267)gtC>gtT	p.V89V		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	89	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAAAAGTCGGCCCCAAGG	0.617000														15			17		0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73765672	73765672	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:73765672C>A	uc001jsn.3	+	1	512	c.72C>A	c.(70-72)taC>taA	p.Y24*	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	24					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GAAGCAAATACGCCCTTTTCT	0.488000														85			38		4.64027e-19	4.71076e-19	1	1	0
DIP2C	22982	broad.mit.edu	37	10	436266	436266	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:436266T>C	uc001ifp.3	-	11	1522	c.1432A>G	c.(1432-1434)Aaa>Gaa	p.K478E	DIP2C_uc009xhj.1_Missense_Mutation_p.K174E	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	478						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGGGGCGGTTTGGAGAGATGT	0.473000														35			59		0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42488319	42488319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:42488319C>T	uc002rsi.3	+	3	659	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	EML4_uc002rsh.4_Missense_Mutation_p.H133Y|EML4_uc010fap.3_Intron	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	133					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.H133D(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						agaggaaTCTCATTCTAATGA	0.368000			T	ALK	NSCLC									41			33		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74684209	74684209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:74684209G>A	uc001jte.1	+	6	1392	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	392	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ATTCACTCTGGAGATCTTCAA	0.512000														78			30		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45288156	45288156	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:45288156G>A	uc010olf.2	-	21	3555	c.3543C>T	c.(3541-3543)ccC>ccT	p.P1181P	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Silent_p.P879P	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1181					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGACCAAGGGGGCTCATCAG	0.627000									Basal Cell Nevus syndrome					42			71		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596334	6596334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:6596334G>A	uc003gjf.1	+	6	968	c.932G>A	c.(931-933)aGc>aAc	p.S311N	MAN2B2_uc003gje.1_Missense_Mutation_p.S311N|MAN2B2_uc011bwf.1_Intron	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	311					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CACATCAACAGCCATGCTGCC	0.602000														92			91		0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107780385	107780385	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:107780385C>T	uc003prt.2	-	0	395	c.105G>A	c.(103-105)gtG>gtA	p.V35V	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Silent_p.V35V|PDSS2_uc003pru.3_Silent_p.V35V|PDSS2_uc003prv.3_Silent_p.V35V	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 2 (PDSS2), mRNA.	35					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GCCAAGAGCCCACCGAGGAGA	0.632000											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			93		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196953106	196953106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:196953106C>T	uc001gts.4	+	2	397	c.269C>T	c.(268-270)cCt>cTt	p.P90L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	90	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGTTCCTTTCCTTTTGTGAAA	0.308000														29			15		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319147	21319147	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:21319147C>T	uc021tss.1	+	2	863	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	KCNJ18_uc002gyv.1_Nonsense_Mutation_p.Q165*|KCNJ18_uc021tst.1_Nonsense_Mutation_p.Q165*	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	165						integral to membrane	inward rectifier potassium channel activity										GGTGGTGGCCCAGTCCATCGT	0.622000														133			16		0	0	1	0	0
LOC653712	653712	broad.mit.edu	37	3	128580685	128580685	+	RNA	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:128580685G>A	uc021xdm.1	-	4		c.770C>T								Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) pseudogene (LOC653712), non-coding RNA.																		TGCTGGCTTTGATGTTGAGGT	0.572000														19			36		0	0	1	0	0
HSH2D	84941	broad.mit.edu	37	19	16268289	16268289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:16268289G>A	uc002ndp.4	+	8	1274	c.743G>A	c.(742-744)gGa>gAa	p.G248E	HSH2D_uc002ndr.3_Silent_p.R191R|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	248						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCTGGGACCGGAAAAGGCAGC	0.597000														142			46		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34129111	34129111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:34129111C>T	uc001zhi.3	+	87	11643	c.11573C>T	c.(11572-11574)tCc>tTc	p.S3858F	RYR3_uc010bar.3_Missense_Mutation_p.S3853F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3858					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCTAGGATTCCAGTCAGATC	0.507000														27			10		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8141772	8141772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:8141772C>T	uc002gkq.4	-	2	432	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	125					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CACTCTTGTTCCAAGTCTGCC	0.542000														84			114		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151451863	151451863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:151451863C>T	uc003ezc.3	+	0	160	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	14						extracellular region|integral to membrane	carboxylesterase activity	p.L14M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCTTTGTGTTCTTTTTGTCTC	0.388000														11			19		0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81791162	81791162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:81791162C>T	uc010ijp.3	+	4	449	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	C4orf22_uc003hmf.3_Missense_Mutation_p.R117C	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	117								p.R117C(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GATCTTTATTCGTGACAGAAA	0.358000														46			30		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102668786	102668786	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:102668786C>T	uc001phi.2	-	0	181	c.38G>A	c.(37-39)tGg>tAg	p.W13*	LOC100288077_uc001phh.1_Non-coding_Transcript|MMP1_uc010ruv.1_Intron	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	13					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CACCACACCCCAGAACAGCAG	0.498000														35			23		0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125434442	125434442	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:125434442C>T	uc001lhh.3	+	1	830	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	259					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCTATGTGATCACCAGGTGAG	0.567000														11			17		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872770	55872770	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55872770G>A	uc010riy.2	+	0	252	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAACCTTAGCGAACTTACTGA	0.438000										HNSCC(53;0.14)				242			193		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325976	57325976	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:57325976T>G	uc002qnu.2	-	6	4185	c.3834A>C	c.(3832-3834)gaA>gaC	p.E1278D	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1249D|PEG3_uc002qnv.2_Missense_Mutation_p.E1278D|PEG3_uc002qnw.2_Missense_Mutation_p.E1154D|PEG3_uc002qnx.2_Missense_Mutation_p.E1152D|PEG3_uc010etr.2_Missense_Mutation_p.E1278D	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1278					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGAGTCTCTCTTCGGTCTGAC	0.468000														43			27		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45518006	45518006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:45518006C>T	uc003cop.1	+	9	1090	c.905C>T	c.(904-906)aCc>aTc	p.T302I	LARS2_uc010hit.1_Missense_Mutation_p.T259I	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	302					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TATACGGCCACCCCTGAAGCC	0.562000														121			79		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109367830	109367830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:109367830C>T	uc002tem.4	+	9	1510	c.1384C>T	c.(1384-1386)Cat>Tat	p.H462Y		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	462					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACAGCTTTTCCATCATTTGCC	0.368000														144			81		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179395360	179395360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179395360C>T	uc021vsy.1	-	306	98503	c.98278G>A	c.(98278-98280)Gaa>Aaa	p.E32760K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E26455K|TTN_uc021vta.1_Missense_Mutation_p.E26388K|TTN_uc021vtb.1_Missense_Mutation_p.E26263K|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33687	Ig-like 145.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCCATTTTCCTTCAGTTTC	0.388000														31			33		0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31843357	31843357	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:31843357C>T	uc010aaz.3	+	7	713	c.603C>T	c.(601-603)acC>acT	p.T201T	B3GALTL_uc001utn.4_Non-coding_Transcript	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	201					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CTAGGCTTACCAAGAGACTAA	0.299000														42			40		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949641	198949641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:198949641C>T	uc010fsp.3	+	1	1798	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	PLCL1_uc002uuv.4_Missense_Mutation_p.S388F	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	467	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACCCATGTTTCCTTTCGAAGT	0.408000														30			8		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915030	48915030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:48915030G>A	uc002rwu.4	-	10	1976	c.1906C>T	c.(1906-1908)Ctt>Ttt	p.L636F	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	636					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CTCAGCAAAAGAAAGAAATCT	0.373000														143			37		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167852752	167852752	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:167852752G>A	uc001ger.3	-	8	1241	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	ADCY10_uc010plj.2_Nonsense_Mutation_p.Q162*|ADCY10_uc009wvk.3_Nonsense_Mutation_p.Q223*|ADCY10_uc009wvl.3_Nonsense_Mutation_p.Q314*|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	315	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding	p.I314I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAGGCATCCTGGATGGCTGGG	0.453000														96			71		0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49388759	49388759	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:49388759G>T	uc002pkz.2	-	8	1158	c.1007C>A	c.(1006-1008)tCc>tAc	p.S336Y		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	336					visual perception	cytoplasm|extracellular region		p.S336S(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGGATCCAGGGAGATGAGGTA	0.517000														133			103		6.53543e-73	6.73706e-73	1	1	0
C12orf40	283461	broad.mit.edu	37	12	40114658	40114658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:40114658G>A	uc001rmc.3	+	12	1731	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	522										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAAAACCAAGGAAAAAATGAA	0.294000														6			21		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137722	40137722	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:40137722G>A	uc021qgf.1	-	0	121	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	LRRC4C_uc001mxc.1_Silent_p.L37L|LRRC4C_uc001mxd.1_Silent_p.L37L|LRRC4C_uc001mxa.1_Silent_p.L41L|LRRC4C_uc001mxb.1_Silent_p.L37L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	41					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCCGCACCAGACCAGCCACC	0.537000														13			15		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221496	55221496	+	RNA	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:55221496C>T	uc002qgs.1	+	0		c.1896C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GCCGGCAGCCCCAGGCTGGGC	0.617000														44			35		0	0	1	0	0
EPT1	85465	broad.mit.edu	37	2	26607985	26607985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:26607985G>A	uc021veu.1	+	7	1037	c.890G>A	c.(889-891)gGa>gAa	p.G297E	EPT1_uc010eyl.1_Non-coding_Transcript	NM_033505		Q9C0D9	EPT1_HUMAN	Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.	297					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										TTTATGGTTGGAACAGCTTTT	0.308000														3			11		0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185270669	185270669	+	Silent	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:185270669A>G	uc001grl.3	-	8	1415	c.792T>C	c.(790-792)caT>caC	p.H264H	IVNS1ABP_uc001gri.3_5'UTR|IVNS1ABP_uc001grj.3_5'UTR|IVNS1ABP_uc009wyj.3_Silent_p.H46H|IVNS1ABP_uc009wyk.3_Non-coding_Transcript|IVNS1ABP_uc001grm.3_5'UTR	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	264	Sufficient for AHR interaction and signaling.				RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTATCTGCTTATGGCCATTCT	0.423000														78			17		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137622308	137622308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:137622308C>T	uc004cfe.3	+	6	1533	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	384	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCGACACCTCCAACTCCTCC	0.607000														13			60		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123963952	123963952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:123963952G>A	uc022bag.1	+	0	202	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	ZHX2_uc003ypk.1_Missense_Mutation_p.E68K	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	68						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			ATCTATGGGGGAAAGCCAGTC	0.493000														24			35		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241813462	241813462	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:241813462C>T	uc002waa.4	+	5	784	c.663C>T	c.(661-663)tcC>tcT	p.S221S	AGXT_uc002wab.4_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	221					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CGCTCATCTCCTTCAGTGACA	0.652000														81			74		0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797110	20797110	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:20797110C>T	uc001und.4	-	2	897	c.510G>A	c.(508-510)ggG>ggA	p.G170G	GJB6_uc001umz.4_Silent_p.G170G|GJB6_uc001unb.4_Silent_p.G170G|GJB6_uc001unc.4_Silent_p.G170G|GJB6_uc001una.4_Silent_p.G170G|GJB6_uc021rhb.1_Silent_p.G170G	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	170					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		AGGGGTCAATCCCACATTTCA	0.443000														58			33		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958994	54958994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:54958994G>A	uc003dhl.3	-	1	390	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	86						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGATTTGAAAGGGAATTGTTG	0.443000														26			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592888	179592888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179592888C>T	uc021vsy.1	-	63	16156	c.15931G>A	c.(15931-15933)Gtg>Atg	p.V5311M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1972M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6238	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATTTGACACTTTGCATGTG	0.378000														11			12		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139175232	139175232	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:139175232A>G	uc003qif.2	+	9	1464	c.1139A>G	c.(1138-1140)tAt>tGt	p.Y380C	ECT2L_uc021zfx.1_Missense_Mutation_p.Y380C|ECT2L_uc011edq.1_Missense_Mutation_p.Y311C	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	380					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTAGGAAGCTATGTGGCCACT	0.433000			"""N, Splice, Mis"""		ETP ALL									210			82		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851992	160851992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:160851992C>T	uc001fxc.3	-	3	276	c.160G>A	c.(160-162)Ggc>Agc	p.G54S		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	54	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAATACAGGCCATCTGTAGAG	0.562000														61			47		0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31940123G>A	uc003nyv.3	+	1	393	c.265G>A	c.(265-267)Gac>Aac	p.D89N	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.D46N|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.D89N|STK19_uc011dox.1_Missense_Mutation_p.D46N|STK19_uc003nyw.3_Missense_Mutation_p.D89N|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(6)|p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000														177			51		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083035	9083035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9083035G>A	uc002mkp.3	-	0	8984	c.8780C>T	c.(8779-8781)tCc>tTc	p.S2927F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2928	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACAGTGAGGAAGATGCTGT	0.453000														27			25		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411785	43411785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43411785C>T	uc002ovj.1	-	3	1027	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E150K|PSG4_uc002ovg.1_Missense_Mutation_p.E310K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	311	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TCCCGTATTTCACATTGATAG	0.507000														125			107		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48713792	48713792	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:48713792C>T	uc001zwx.2	-	61	8057	c.7662G>A	c.(7660-7662)cgG>cgA	p.R2554R	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2554	EGF-like 44; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGAGAATCCCCGCTGGCATT	0.527000														23			16		0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95552020	95552020	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:95552020C>T	uc001pfp.2	+	5	889	c.651C>T	c.(649-651)ctC>ctT	p.L217L	CEP57_uc001pfo.2_Silent_p.L217L|CEP57_uc009ywn.2_Silent_p.L65L|CEP57_uc010ruh.2_Silent_p.L208L|CEP57_uc001pfq.2_Silent_p.L217L|CEP57_uc001pfr.2_Silent_p.L65L	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	217	centrosome localization domain (CLD) (By similarity).				G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGCAAAACTCCATGAAGAAG	0.353000									Mosaic Variegated Aneuploidy Syndrome					40			25		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170828642	170828642	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:170828642C>T	uc003fhh.2	-	18	2490	c.2145G>A	c.(2143-2145)gaG>gaA	p.E715E	TNIK_uc003fhi.2_Silent_p.E660E|TNIK_uc003fhj.2_Silent_p.E686E|TNIK_uc003fhk.2_Silent_p.E715E|TNIK_uc003fhl.2_Silent_p.E631E|TNIK_uc003fhm.2_Silent_p.E660E|TNIK_uc003fhn.2_Silent_p.E686E|TNIK_uc003fho.2_Silent_p.E631E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	715	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCAAGATGGGCTCAGTTCTCC	0.572000														20			4		0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24682669	24682669	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24682669C>A	uc010tob.1	-	0	689	c.55G>T	c.(55-57)Gga>Tga	p.G19*	TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_Nonsense_Mutation_p.G36*|TM9SF1_uc001wnj.3_Nonsense_Mutation_p.G36*|NEDD8-MDP1_uc001wnk.2_3'UTR|NEDD8-MDP1_uc001wnl.2_3'UTR|NEDD8-MDP1_uc021rrl.1_3'UTR|NEDD8-MDP1_uc001wnm.2_3'UTR|NEDD8-MDP1_uc021rrm.1_3'UTR	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CTCCCGCCTCCGCCCCTCAGC	0.687000														85			3		1	1	1	1	0
SALL4	57167	broad.mit.edu	37	20	50407577	50407577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:50407577G>A	uc002xwh.4	-	1	1546	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	482					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAGCCCTACAGAGGTGGTTAC	0.557000														155			124		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39826491	39826491	+	Missense_Mutation	SNP	C	T	T	rs138693822	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:39826491C>T	uc021olw.1	+	11	7591	c.7591C>T	c.(7591-7593)Ctc>Ttc	p.L2531F	MACF1_uc021ols.1_Missense_Mutation_p.L2029F|MACF1_uc001cdc.2_Missense_Mutation_p.L2029F|MACF1_uc021olt.1_Missense_Mutation_p.L2029F|MACF1_uc001cda.1_Missense_Mutation_p.L1937F|MACF1_uc001cdb.1_Missense_Mutation_p.L1116F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4096					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)			CTTCCAAAGCCTCTCCTATAG	0.423000														49			10		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66258746	66258746	+	Silent	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:66258746G>T	uc001oig.1	+	6	752	c.690G>T	c.(688-690)gtG>gtT	p.V230V	DPP3_uc001oif.1_Silent_p.V230V|DPP3_uc010rpe.1_Silent_p.V219V	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	230					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACTCTGAGGTGACTTCCAAGC	0.557000											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			106		1.6696e-61	1.71996e-61	1	1	0
EPHA7	2045	broad.mit.edu	37	6	94120355	94120355	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:94120355C>T	uc003poe.3	-	2	937	c.696G>A	c.(694-696)ggG>ggA	p.G232G	EPHA7_uc003pof.3_Silent_p.G232G|EPHA7_uc011eac.2_Silent_p.G232G|EPHA7_uc003pog.4_Silent_p.G232G	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	232	Cys-rich.		G -> R (in a metastatic melanoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.G232R(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGACACATGTCCCTCGAACCT	0.463000														39			18		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357319	38357319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:38357319G>A	uc010abx.3	-	1	387	c.152C>T	c.(151-153)tCc>tTc	p.S51F	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.S51F|TRPC4_uc001uws.3_Missense_Mutation_p.S51F|TRPC4_uc010tey.2_Missense_Mutation_p.S51F|TRPC4_uc010abw.3_Missense_Mutation_p.S51F|TRPC4_uc010aby.3_Missense_Mutation_p.S51F	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	51					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCTCTAGGGATTTCTTGAC	0.388000														85			56		0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	66999061	66999061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:66999061C>T	uc001ojw.3	+	11	1973	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.S64F	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGGTTGGAGTCTGGGAATGGG	0.478000														18			11		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93773739	93773740	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:93773739_93773740CC>TT	uc001khr.3	+	31	4635_4636	c.4537_4538CC>TT	c.(4537-4539)cca>TTa	p.P1513L		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1513					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCAGGATCTTCCACCTAAAATT	0.366000														106			30		0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72186208	72186208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:72186208C>T	uc002llm.2	+	10	1494	c.1235C>T	c.(1234-1236)aCc>aTc	p.T412I	CNDP2_uc002lln.2_Missense_Mutation_p.T328I	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	412						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCAGACTTGACCAGGGAAGGC	0.557000														148			49		0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83991322	83991323	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:83991322_83991323CC>TT	uc002fha.3	+	2	295_296	c.295_296CC>TT	c.(295-297)ccc>TTc	p.P99F	OSGIN1_uc002fhb.3_Missense_Mutation_p.P16F|OSGIN1_uc002fhc.3_Missense_Mutation_p.P16F	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	99					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CAGCTCAGAGCCCCTCCCGGTC	0.693000														2			18		0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42857277	42857277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:42857277G>A	uc003xpr.3	+	16	1890	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K		NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA.	550					Golgi localization|cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	FHF complex|cis-Golgi network|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGCTTGAAGAACATCTGTA	0.333000			T	RET	papillary thyroid									53			16		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181762858	181762858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:181762858C>T	uc009wxt.3	+	44	6151	c.5956C>T	c.(5956-5958)Cct>Tct	p.P1986S	CACNA1E_uc001gow.3_Intron|CACNA1E_uc009wxs.3_Intron	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1986					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATCTACCTTCCTTCGGACAC	0.507000														21			13		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431695	135431695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:135431695G>A	uc004ezu.1	+	5	6121	c.5830G>A	c.(5830-5832)Gga>Aga	p.G1944R	GPR112_uc010nsb.1_Missense_Mutation_p.G1739R|GPR112_uc010nsc.1_Missense_Mutation_p.G1711R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1944					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCTATGTCAGGAATTCTTCC	0.423000														4			44		0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302456	6302456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:6302456C>T	uc003wqi.3	+	7	1289	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	MCPH1_uc003wqh.3_Missense_Mutation_p.L405F|MCPH1_uc011kwl.2_Missense_Mutation_p.L357F	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	405						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCTGGAGGCTCTTAGCTGTGG	0.512000														31			52		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897926	36897927	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:36897926_36897927AC>CT	uc003cgj.3	-	11	3402_3403	c.3154_3155GT>AG	c.(3154-3156)gtt>AGt	p.V1052S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1052					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.V502I(2)|p.V1052I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCCCAGTAAACGTGGAATTTC	0.530000														11			9		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122422657	122422657	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:122422657C>T	uc003efq.4	+	6	3209	c.3150C>T	c.(3148-3150)ctC>ctT	p.L1050L	PARP14_uc021xdc.1_Silent_p.L914L|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Silent_p.L767L|PARP14_uc003efs.1_Silent_p.L767L	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1050	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTAAGTCCCTCTTGGAAAAAG	0.478000														27			19		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462012	50462012	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:50462012G>A	uc010ybh.2	-	6	1342	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	SIGLEC11_uc010ybi.2_Silent_p.D417D	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	417	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGACCCCGGGGTCTGAGGGCT	0.677000														143			122		0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173776424	173776424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:173776424G>A	uc001gjg.4	-	3	1004	c.401C>T	c.(400-402)cCg>cTg	p.P134L	CENPL_uc001gje.4_Missense_Mutation_p.P134L|CENPL_uc001gjf.4_Missense_Mutation_p.P134L	NM_001127181	NP_001120653	Q8N0S6	CENPL_HUMAN	Homo sapiens centromere protein L (CENPL), transcript variant 1, mRNA.	134					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		p.P134P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAATGCTTCCGGGTCCCTTTG	0.363000														32			16		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21551913	21551913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:21551913C>T	uc001bek.2	-	16	1945	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R	ECE1_uc001bem.2_Missense_Mutation_p.G608R|ECE1_uc001bej.2_Missense_Mutation_p.G612R|ECE1_uc001bei.2_Missense_Mutation_p.G621R|ECE1_uc010odl.1_Missense_Mutation_p.G624R	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	624					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGAGGTTCCCGTCCTTGTCA	0.612000														66			19		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777424	123777424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:123777424G>A	uc010saa.2	+	0	286	c.286G>A	c.(286-288)Gga>Aga	p.G96R		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCCTATTCTGGATGCATGAT	0.428000														121			99		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063559	9063559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9063559G>A	uc002mkp.3	-	2	24091	c.23887C>T	c.(23887-23889)Ccc>Tcc	p.P7963S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7965	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7963P(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						TCCAGAAGGGGAGGGCTCATC	0.453000														23			23		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453400	21453400	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:21453400G>A	uc001rer.3	-	6	1043	c.792C>T	c.(790-792)ttC>ttT	p.F264F	SLCO1A2_uc010siq.2_Silent_p.F132F|SLCO1A2_uc001res.3_Silent_p.F264F|SLCO1A2_uc010sio.2_Silent_p.F132F|SLCO1A2_uc010sip.2_Silent_p.F132F|SLCO1A2_uc001ret.3_Silent_p.F262F|SLCO1A2_uc001reu.2_Silent_p.F244F	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	264					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TGGGCAAAAAGAAAAAAGGAA	0.413000														15			8		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373853	138373853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:138373853G>A	uc002tva.1	+	16	3442	c.3442G>A	c.(3442-3444)Gaa>Aaa	p.E1148K	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCCTGAATGAAAATTGCTT	0.453000														108			74		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106512077	106512077	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:106512077G>A	uc021ser.1	-	2239		c.39985_splice	c.e2239+1							Parts of antibodies, mostly variable regions.																		ATCTCACACTGGACACCTGCA	0.493000														12			36		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138423	126138423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:126138423G>A	uc001uhe.1	+	8	2412	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D314N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	802						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGCAGCAATGATATTGAGGG	0.473000														27			40		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73541499	73541499	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:73541499A>T	uc002avm.4	+	9	1897	c.1705A>T	c.(1705-1707)Att>Ttt	p.I569F	NEO1_uc010ukx.2_Missense_Mutation_p.I569F|NEO1_uc010uky.2_Missense_Mutation_p.I569F|NEO1_uc002avn.4_Missense_Mutation_p.I589F|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	569	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CAATGGGGAAATTCAGAATTA	0.438000														62			42		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122538687	122538687	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:122538687C>T	uc004etq.4	+	9	1714	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	GRIA3_uc004etr.4_Silent_p.I474I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.I458I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	474					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AATTGTCCATCGTTGGTGACG	0.418000														10			117		0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	34960667	34960667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:34960667G>A	uc002ysk.3	-	0	601	c.281C>T	c.(280-282)cCc>cTc	p.P94L	DONSON_uc002ysn.1_Intron|DONSON_uc002ysi.1_5'Flank|DONSON_uc002ysj.3_5'Flank|DONSON_uc002ysm.3_Missense_Mutation_p.P94L	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	Homo sapiens downstream neighbor of SON (DONSON), mRNA.	94					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CGGCCCGTCGGGGGGCTCCGC	0.766000														6			7		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90381983	90381983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:90381983G>A	uc003pnn.1	-	81	13846	c.13730C>T	c.(13729-13731)gCc>gTc	p.A4577V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4577					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.S4576A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCGGAGATGGCAGAAATTAT	0.468000														41			65		0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379139	25379139	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:25379139C>T	uc003gro.3	+	1	219	c.90C>T	c.(88-90)ccC>ccT	p.P30P		NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	30					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TCTGGTCGCCCAAGCGGGATC	0.637000														37			17		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121430231	121430231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:121430231G>A	uc001pxx.3	+	20	3043	c.2914G>A	c.(2914-2916)Gaa>Aaa	p.E972K		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	972					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTTTAGAATGAAATCTACTG	0.468000														30			30		0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78885442	78885442	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:78885442A>T	uc002bdy.3	+	5	1454	c.1254A>T	c.(1252-1254)gaA>gaT	p.E418D	CHRNA3_uc002beb.3_3'UTR|CHRNA3_uc002bea.3_Non-coding_Transcript|CHRNA3_uc010blg.2_Non-coding_Transcript	NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	418					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						AGGTTGTTGAAGATTGGAAAT	0.318000														76			56		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117644	11117644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:11117644C>T	uc003jfa.1	-	12	2340	c.2195G>A	c.(2194-2196)aGg>aAg	p.R732K	CTNND2_uc010itt.2_Missense_Mutation_p.R641K|CTNND2_uc011cmy.1_Missense_Mutation_p.R395K|CTNND2_uc011cmz.1_Missense_Mutation_p.R299K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.R299K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	732					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCTCTCATCCTTCTGCGGGC	0.532000														85			56		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14291101	14291101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:14291101G>A	uc003jff.3	+	4	823	c.817G>A	c.(817-819)Gag>Aag	p.E273K	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.E224K|TRIO_uc003jfh.1_5'Flank	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	273					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGCCCCCATCGAGGACCTGGA	0.507000														56			42		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70889118	70889118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:70889118G>A	uc002ezr.3	-	72	12504	c.12353C>T	c.(12352-12354)tCc>tTc	p.S4118F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4119								p.S4070F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTCCTGGAAGGAAAAATCGAA	0.527000														11			48		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79945341	79945341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:79945341G>A	uc004edt.3	-	32	3996	c.3733C>T	c.(3733-3735)Cag>Tag	p.Q1245*	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.Q1074*|BRWD3_uc004edq.3_Nonsense_Mutation_p.Q841*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.Q841*|BRWD3_uc004edr.3_Nonsense_Mutation_p.Q915*|BRWD3_uc004eds.3_Nonsense_Mutation_p.Q841*|BRWD3_uc004edo.3_Nonsense_Mutation_p.Q841*|BRWD3_uc004edu.3_Nonsense_Mutation_p.Q915*|BRWD3_uc004edv.3_Nonsense_Mutation_p.Q841*|BRWD3_uc004edw.3_Nonsense_Mutation_p.Q841*|BRWD3_uc004edx.3_Nonsense_Mutation_p.Q841*|BRWD3_uc004edy.3_Nonsense_Mutation_p.Q841*|BRWD3_uc004edz.3_Nonsense_Mutation_p.Q915*|BRWD3_uc004eea.3_Nonsense_Mutation_p.Q915*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.Q841*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1245										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTACAGCTCTGATCCCTAAGA	0.284000														0			11		0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140058343	140058344	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:140058343_140058344GG>AA	uc004clk.3	+	17	2906_2907	c.2576_2577GG>AA	c.(2575-2577)cgg>cAA	p.R859Q	GRIN1_uc004cli.1_Missense_Mutation_p.R534Q|GRIN1_uc004clj.1_Missense_Mutation_p.R856Q|GRIN1_uc004cln.3_Missense_Mutation_p.R880Q|GRIN1_uc004clo.3_Missense_Mutation_p.R880Q|GRIN1_uc004clm.3_Missense_Mutation_p.R859Q|GRIN1_uc004cll.3_Missense_Mutation_p.R859Q	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	859					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AACGTGTGGCGGAAGAACCTGC	0.658000														7			39		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25471998	25471999	+	Silent	DNP	GG	AC	AC			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:25471998_25471999GG>AC	uc002wux.1	-	10	1547_1548	c.1473_1474CC>GT	c.(1471-1476)accctg>acGTtg	p.491_492TL>TL	NINL_uc010gdn.1_Silent_p.491_492TL>TL|NINL_uc010gdo.1_Silent_p.274_275TL>TL|NINL_uc010ztf.1_Silent_p.507_508TL>TL	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	491					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTCAGGGCCAGGGTCAGCTTCT	0.673000														67			48		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77425666	77425666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:77425666G>A	uc021sqy.1	-	6	4334	c.3758C>T	c.(3757-3759)tCc>tTc	p.S1253F		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1253					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GCTGGAGAGGGATTCCATGCT	0.537000														65			52		0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043512	30043513	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:30043512_30043513GG>AA	uc003npe.3	-	0	116_117	c.54_55CC>TT	c.(52-57)atccca>atTTca	p.P19S	RNF39_uc003npd.3_Missense_Mutation_p.P19S	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA.	19						cytoplasm	zinc ion binding										CCCTCTCCTGGGATTGCCTCTC	0.584000														100			36		0	0	1	0	0
GALK2	2585	broad.mit.edu	37	15	49531560	49531560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:49531560C>T	uc001zxj.1	+	4	598	c.500C>T	c.(499-501)tCc>tTc	p.S167F	GALK2_uc001zxi.1_Missense_Mutation_p.S156F|GALK2_uc010ufb.1_Missense_Mutation_p.S143F|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Missense_Mutation_p.S143F	NM_002044	NP_002035	Q01415	GALK2_HUMAN	Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.	167					galactose metabolic process	cytoplasm	ATP binding|N-acetylgalactosamine kinase activity|galactokinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		AGGAATCTATCCAAGGTAACT	0.448000														34			31		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036443	32036443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:32036443G>A	uc003nzl.2	-	16	6146	c.5944C>T	c.(5944-5946)Ccc>Tcc	p.P1982S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2064	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGGCTCGGGGGTTGCGGTG	0.632000														113			73		0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95290162	95290162	+	Silent	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:95290162T>C	uc001dqv.4	+	2	356	c.249T>C	c.(247-249)ccT>ccC	p.P83P	SLC44A3_uc001dqx.4_Silent_p.P83P|SLC44A3_uc010otq.2_Silent_p.P47P|SLC44A3_uc010otr.2_Silent_p.P47P|SLC44A3_uc001dqw.4_Silent_p.P35P|SLC44A3_uc010ots.2_Silent_p.P35P|SLC44A3_uc009wds.3_5'UTR|SLC44A3_uc010ott.2_Silent_p.P35P|SLC44A3_uc010otu.1_5'Flank	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	83						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AAGGGGCCCCTCTTTCAGGGC	0.488000														72			135		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754809	140754809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140754809C>T	uc003ljy.2	+	0	1159	c.1159C>T	c.(1159-1161)Ccg>Tcg	p.P387S	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_uc011dau.2_Missense_Mutation_p.P387S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	390	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P387A(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)			CTGTTCCATCCCGAGAAGTCT	0.443000														8			69		0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012161	151012161	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:151012161G>A	uc003eyt.2	-	2	1234	c.873C>T	c.(871-873)atC>atT	p.I291I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	291						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTAATATAGGATTTTTTGTG	0.348000														53			25		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48808426	48808426	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:48808426G>A	uc001zwx.2	-	10	1676	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	427	Pro-rich.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGGTCGAGGGACCGGAATTT	0.473000														158			142		0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102769132	102769132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:102769132G>A	uc011klj.1	-	1	390	c.311C>T	c.(310-312)tCc>tTc	p.S104F	NAPEPLD_uc003vbd.2_Missense_Mutation_p.S31F|NAPEPLD_uc003vbc.2_Missense_Mutation_p.S31F|NAPEPLD_uc003vbe.2_Non-coding_Transcript|NAPEPLD_uc003vbf.3_Missense_Mutation_p.S31F	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	31					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACTTGCTCCGGAATTCCGTGC	0.388000														16			33		0	0	1	0	0
RABL5	64792	broad.mit.edu	37	7	100958495	100958495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100958495C>T	uc003uyl.3	-	4	581	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	RABL5_uc011kkk.2_Missense_Mutation_p.E83K|RABL5_uc011kkl.2_Missense_Mutation_p.E83K|RABL5_uc003uym.3_Missense_Mutation_p.E130K|RABL5_uc010lhw.3_Non-coding_Transcript	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN	Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.	160							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					TTTATGAATTCCATCCGGATC	0.448000											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			28		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9787362	9787362	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:9787362C>T	uc003bse.3	+	10	3555	c.3156C>T	c.(3154-3156)tcC>tcT	p.S1052S	BRPF1_uc003bsf.3_Silent_p.S1058S|BRPF1_uc003bsg.3_Silent_p.S1051S|BRPF1_uc011ati.2_Silent_p.S957S	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	1052	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGGCCTACTCCGTGGGCACTG	0.647000														63			59		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863263	154863263	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:154863263C>T	uc003wlu.1	+	0	718	c.654C>T	c.(652-654)ttC>ttT	p.F218F	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	218						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGGTGCTCTTCGTGTACTGGA	0.592000														30			50		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688274	60688275	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:60688274_60688275GG>AA	uc002sae.1	-	3	2000_2001	c.1772_1773CC>TT	c.(1771-1773)gcc>gTT	p.A591V	BCL11A_uc002sab.3_Missense_Mutation_p.A591V|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.A260V|BCL11A_uc010ypj.2_Missense_Mutation_p.A557V|BCL11A_uc002sad.1_Missense_Mutation_p.A439V|BCL11A_uc002saf.1_Missense_Mutation_p.A557V	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	591					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCGACTCGCCGGCCACCGAGTC	0.678000			T	IGH@	B-CLL									68			46		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26286818	26286818	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:26286818C>T	uc003abz.1	+	25	4660	c.4410C>T	c.(4408-4410)gcC>gcT	p.A1470A	MYO18B_uc003aca.1_Silent_p.A1351A|MYO18B_uc010guy.1_Silent_p.A1352A|MYO18B_uc010guz.1_Silent_p.A1351A|MYO18B_uc011aka.1_Silent_p.A624A|MYO18B_uc011akb.1_Silent_p.A983A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1470	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCTACAGGCCTTCCGGGAGG	0.612000														39			14		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20702391	20702391	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:20702391C>T	uc002dhm.1	-	0	188	c.120G>A	c.(118-120)tgG>tgA	p.W40*	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Nonsense_Mutation_p.W40*	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	40					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding	p.W40*(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CATAGTCATTCCATCTTGGGG	0.498000														15			101		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870395	4870395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:4870395G>A	uc010qyo.2	-	0	44	c.44C>T	c.(43-45)tCa>tTa	p.S15L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGGCCATTGAAGTGCTGCT	0.498000														103			68		0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031558	38031558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38031558C>T	uc002hte.3	+	6	913	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	ZPBP2_uc002htf.3_Missense_Mutation_p.H232Y	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	254					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TATTTTCTACCATAACTTTAA	0.383000														25			26		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27278210	27278210	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:27278210C>T	uc003xfn.2	+	8	1228	c.420C>T	c.(418-420)ttC>ttT	p.F140F	PTK2B_uc022ate.1_Silent_p.F140F|PTK2B_uc003xfp.2_Silent_p.F140F|PTK2B_uc003xfq.2_Silent_p.F140F	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	140	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CAGAAGACTTCATGGAGAGCC	0.478000														130			56		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2847860	2847860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:2847860G>A	uc002kln.3	+	1	347	c.188G>A	c.(187-189)gGa>gAa	p.G63E		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	63	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTGCTGGAGGGAAGTGAGAGT	0.617000														66			34		0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70760624	70760624	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:70760624T>A	uc001svx.3	+	0	563	c.110T>A	c.(109-111)tTc>tAc	p.F37Y		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	37					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATCTTCGGCTTCTGCTGGCTG	0.612000														406			41		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5391461	5391461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:5391461G>A	uc003soi.4	-	16	5808	c.5459C>T	c.(5458-5460)tCg>tTg	p.S1820L	TNRC18_uc003soj.3_Missense_Mutation_p.S202L	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1820							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TTGGTCAAACGATTCCTCCGA	0.577000														24			11		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137653787	137653787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:137653787C>T	uc004cfe.3	+	18	2334	c.1952C>T	c.(1951-1953)tCc>tTc	p.S651F		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	651	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTGGTCCTTCCGGCCCACCA	0.577000														84			42		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673030	186673030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:186673030G>A	uc002upl.3	+	16	19264	c.19264G>A	c.(19264-19266)Gaa>Aaa	p.E6422K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAAGTCTAAGGAAAAGTCTTC	0.353000														16			10		0	0	1	0	0
LUC7L2	51631	broad.mit.edu	37	7	139106912	139106912	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:139106912C>T	uc011kqt.2	+	10	1437	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	LUC7L2_uc011kqs.2_Silent_p.S332S|LUC7L2_uc003vuy.3_Silent_p.S334S|LUC7L2_uc003vux.3_Silent_p.S335S|LUC7L2_uc003vva.3_Silent_p.S282S|LOC100129148_uc022ams.1_Intron	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	335							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					TTTTCAGATCCTCAAAAGAAA	0.363000														31			26		0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225692710	225692710	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:225692710G>A	uc001hpc.1	-	11	2037	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	ENAH_uc021pju.1_Intron|ENAH_uc001hpd.1_Intron|ENAH_uc001hpb.1_Silent_p.S147S	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	528	EVH2.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ATGAATCATAGGACCTGTTGT	0.368000														37			36		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31896607	31896607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:31896607G>A	uc003nyf.3	+	2	619	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.D119N|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.D90N|CFB_uc011dor.2_Intron	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	133	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGAGTGTGAGGATGGCTTCAT	0.577000														125			100		0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88934497	88934497	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:88934497C>A	uc001xwv.4	-	18	3840	c.3509G>T	c.(3508-3510)aGc>aTc	p.S1170I	PTPN21_uc010twc.2_Missense_Mutation_p.S966I	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	1170						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAGCCTGGAGCTTTTCAGGAA	0.483000														142			4		1	1	1	1	0
PGK2	5232	broad.mit.edu	37	6	49754297	49754297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:49754297C>T	uc003ozu.3	-	0	757	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	202					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACTGGGTTTTCCAAGGCTTTA	0.448000														88			27		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140409855	140409855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:140409855G>A	uc003eto.2	+	3	2112	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	636	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGAGATGGAATTCTATGA	0.418000														89			28		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970084	118970084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:118970084G>A	uc003ksm.2	+	2	851	c.641G>A	c.(640-642)aGa>aAa	p.R214K	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.R214K|FAM170A_uc003kso.3_Missense_Mutation_p.R167K	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	214						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GACACACCCAGAGCCAAGACT	0.597000														13			82		0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266138	65266138	+	RNA	SNP	A	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:65266138A>T	uc010roh.2	+	0		c.906A>T								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		TCACACTTTAATCTTCCTTCA	0.458000														96			46		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863050	154863050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:154863050G>A	uc003wlu.1	+	0	505	c.441G>A	c.(439-441)atG>atA	p.M147I	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	147						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGCGCCACATGGAATACACGC	0.622000														113			45		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170397	39170397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:39170397G>A	uc003cjc.2	+	13	2068	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K	TTC21A_uc011ayx.1_Missense_Mutation_p.E583K|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	631							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGAACTGGTGGAGGCCCTCCG	0.577000														57			52		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790485	133790485	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:133790485G>A	uc001qgx.4	-	17	3366	c.3135C>T	c.(3133-3135)ttC>ttT	p.F1045F		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1045	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCCCGAAGGGGAATTCTGGCC	0.662000														106			91		0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115943	15115943	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:15115943G>A	uc003bzm.1	-	13	2315	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	ZFYVE20_uc010hek.1_Silent_p.T567T	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	567	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AAGCAAGGTGGGTGCGAGGCT	0.577000														43			32		0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65804671	65804671	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:65804671T>C	uc002aov.3	-	1	1847	c.269A>G	c.(268-270)gAt>gGt	p.D90G	DPP8_uc002aow.3_Missense_Mutation_p.D90G|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Missense_Mutation_p.D74G|DPP8_uc002aox.3_Missense_Mutation_p.D74G|DPP8_uc002aoy.3_Missense_Mutation_p.D90G|DPP8_uc002aoz.3_Missense_Mutation_p.D74G|DPP8_uc010bhj.3_Missense_Mutation_p.D90G	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	90					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCATCTGGATCATTCCTCTT	0.403000														92			25		0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461038	12461038	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:12461038G>C	uc002mtr.1	-	5	1972	c.1361C>G	c.(1360-1362)aCt>aGt	p.T454S	ZNF442_uc010xmk.1_Missense_Mutation_p.T385S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCAGTGTGAGTTGTTTCATG	0.388000														68			19		0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607648	55607648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:55607648G>A	uc002qix.3	-	6	1023	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F	PPP1R12C_uc010yfs.2_Missense_Mutation_p.S262F|PPP1R12C_uc002qiy.3_Missense_Mutation_p.S336F|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	336						cytoplasm		p.S336Y(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TTTGCTGCTAGAGGGCGCTTG	0.652000														189			139		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52556609	52556610	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:52556609_52556610GG>AA	uc003dej.3	+	60	6723_6724	c.6649_6650GG>AA	c.(6649-6651)ggc>AAc	p.G2217N	STAB1_uc003dek.1_Missense_Mutation_p.G232N|STAB1_uc003del.3_Missense_Mutation_p.G104N	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2217	Link.				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)		GGCCACCAGCGGCCCTTATGGT	0.599000														115			105		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745329	135745329	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:135745329C>T	uc002tue.1	-	6	1144	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.K258K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Silent_p.K99K|YSK4_uc002tui.4_Silent_p.K388K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	371							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		AACTCTCATTCTTTCTTGATG	0.383000														34			25		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961642	73961642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:73961642C>T	uc004eby.3	-	2	3367	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	917					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGGGAGGCTCCAAATTCACT	0.458000														3			19		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21715933	21715933	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:21715933G>A	uc001rfb.3	-	6	1236	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	327					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.F327F(2)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCCAGCAATGAAAAGGAACA	0.368000														47			29		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089263	10089263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:10089263G>A	uc002mmq.1	-	40	3091	c.3005C>T	c.(3004-3006)cCc>cTc	p.P1002L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1002	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGCCCCCACGGGCCCTGGGGG	0.542000														30			17		0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125448076	125448076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:125448076C>T	uc009zbl.3	+	5	606	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	EI24_uc001qca.3_Missense_Mutation_p.L122F|EI24_uc001qcb.3_Missense_Mutation_p.L122F|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Missense_Mutation_p.L108F|EI24_uc010sbf.2_Non-coding_Transcript	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	122					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GGAATTCTTCCTCACGTCAAT	0.458000														88			80		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211675	50211675	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:50211675G>A	uc003cyj.3	+	4	546	c.348G>A	c.(346-348)ggG>ggA	p.G116G	SEMA3F_uc003cyk.3_Silent_p.G116G	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	116	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCGAGTGTGGGAACTTCGTCA	0.637000														77			61		0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172644339	172644339	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:172644339G>A	uc002uhh.2	-	15	1793	c.1704C>T	c.(1702-1704)ctC>ctT	p.L568L	SLC25A12_uc010fqh.2_Silent_p.L461L	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	568					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CTTCTTCCCGGAGAATCTTCC	0.582000														67			39		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8609072	8609072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:8609072G>A	uc003glm.3	+	6	1321	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.D372N|CPZ_uc003gln.3_Missense_Mutation_p.D246N	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	383					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCATGGGGGCGACCTGGTGGT	0.607000											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		90			86		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410025	159410025	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:159410025C>T	uc010piv.2	+	0	514	c.477C>T	c.(475-477)gcC>gcT	p.A159A	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	159					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCCTGGGGGCCTGCAGCATTG	0.502000														128			71		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181765849	181765849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:181765849G>A	uc009wxt.3	+	46	6449	c.6254G>A	c.(6253-6255)cGa>cAa	p.R2085Q	CACNA1E_uc001gow.3_Missense_Mutation_p.R2042Q|CACNA1E_uc009wxs.3_Missense_Mutation_p.R2023Q	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2085					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGCGGGGACGATCAAAAGAG	0.557000														35			30		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471315	121471316	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:121471315_121471316CC>TT	uc001tzj.1	-	1	435_436	c.429_430GG>AA	c.(427-432)aggggg>agAAgg	p.G144R	OASL_uc001tzk.1_Missense_Mutation_p.G144R	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	144					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCGCAGTCCCCCTGGTCTGGA	0.624000														83			18		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477219	128477219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:128477219G>A	uc002tpg.2	-	15	2579	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	794					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCAGGACCCTGGTTCTCCCGG	0.607000														36			22		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71952944	71952944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:71952944G>A	uc002atb.1	+	6	1307	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	THSD4_uc002atd.1_Missense_Mutation_p.G84S|THSD4_uc010ukg.1_Missense_Mutation_p.G50S|THSD4_uc002ate.2_Missense_Mutation_p.G50S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	410						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGACAACACGGGCTGTCAGGT	0.532000														146			136		0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56390306	56390306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:56390306G>A	uc002lhm.1	+	9	1303	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	MALT1_uc002lhn.1_Missense_Mutation_p.G338R	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	349	Caspase-like.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	p.L348L(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCTTTTGATAGGAAATATGAA	0.388000			T	BIRC3	MALT									22			12		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949515	38949515	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38949515C>T	uc021wvy.1	-	9	1597	c.1398G>A	c.(1396-1398)agG>agA	p.R466R		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	466					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGAAGGACTTCCTTTTCTTAT	0.403000														47			27		0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	189038424	189038424	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:189038424T>C	uc003frv.2	+	10	1870	c.643T>C	c.(643-645)Ttc>Ctc	p.F215L	TPRG1_uc003frw.2_Missense_Mutation_p.F215L	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	215										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GTTGTCTGGGTTCATGTCTAA	0.408000														22			3		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825826	52825827	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52825826_52825827CC>GT	uc010ydl.2	+	4	1393_1394	c.1323_1324CC>GT	c.(1321-1326)ggcctt>ggGTtt	p.L442F	ZNF480_uc002pyv.3_Missense_Mutation_p.L365F|ZNF480_uc010ydm.2_Missense_Mutation_p.L399F|ZNF480_uc010epn.3_Missense_Mutation_p.L273F|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AGTATTCAGGCCTTTCAGCCCA	0.391000														105			62		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85612913	85612913	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:85612913G>A	uc003hpd.3	-	59	9483	c.9075C>T	c.(9073-9075)atC>atT	p.I3025I	WDFY3_uc003hpe.1_Silent_p.I636I	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3025						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)		CTGTACATACGATTTGTCCTA	0.373000														30			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067908	9067908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9067908G>A	uc002mkp.3	-	2	19742	c.19538C>T	c.(19537-19539)tCc>tTc	p.S6513F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6515	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACAGAAGGGAAGAGGAAGA	0.473000														13			16		0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130106988	130106988	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:130106988C>T	uc001qga.3	-	5	1662	c.1268_splice	c.e5-1	p.G423_splice	ZBTB44_uc001qgb.4_Splice_Site_p.G423_splice|ZBTB44_uc001qfx.3_Splice_Site|ZBTB44_uc001qfz.3_Splice_Site_p.G423_splice	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TGGTTTAATTCCTGTAAATAA	0.363000														55			40		0	0	1	0	0
CDK2AP2	10263	broad.mit.edu	37	11	67274939	67274939	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:67274939G>A	uc001oma.3	-	2	759	c.210C>T	c.(208-210)tcC>tcT	p.S70S	PITPNM1_uc001oly.3_5'Flank|PITPNM1_uc001olz.3_5'Flank|CDK2AP2_uc009yry.3_Non-coding_Transcript	NM_005851	NP_005842	O75956	CDKA2_HUMAN	Homo sapiens cyclin-dependent kinase 2 associated protein 2 (CDK2AP2), mRNA.	70										lung(1)	1						AGGTGCTCTGGGAGCCCTGGG	0.612000														103			85		0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97363851	97363851	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:97363851G>A	uc010fia.3	+	38	4395	c.4395G>A	c.(4393-4395)caG>caA	p.Q1465Q	FER1L5_uc002sws.4_Silent_p.Q183Q|FER1L5_uc010fib.1_Non-coding_Transcript|FER1L5_uc010yus.2_Silent_p.Q182Q	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1465						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						AACTCTACCAGGAGCAGCCCA	0.602000														24			12		0	0	1	0	0
BC067347	0	broad.mit.edu	37	17	20744577	20744577	+	RNA	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:20744577G>A	uc010crb.2	+	0		c.237G>A								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		TGCACCTGACGGAGCATACCG	0.701000														84			21		0	0	1	0	0
SEC13	6396	broad.mit.edu	37	3	10346764	10346764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:10346764C>T	uc003bvn.3	-	6	783	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	SEC13_uc003bvl.3_Missense_Mutation_p.A153T|SEC13_uc003bvm.3_Missense_Mutation_p.A207T|SEC13_uc003bvp.3_Missense_Mutation_p.A224T|SEC13_uc003bvo.3_Missense_Mutation_p.A267T|SEC13_uc003bvr.1_Missense_Mutation_p.A207T	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	221					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding	p.A221T(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						ATGGAGGGGGCCCAGGCCACA	0.607000														73			62		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267485	107267485	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:107267485C>T	uc011lvm.2	+	0	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATACTGCCTTCATTTCCATCC	0.338000														5			35		0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31211796	31211796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:31211796C>T	uc001bsc.2	-	4	592	c.501G>A	c.(499-501)atG>atA	p.M167I		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	167					transport	integral to plasma membrane|lysosomal membrane		p.S166F(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGTGGTTCATGGACTTGA	0.552000														19			17		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75812356	75812356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:75812356G>A	uc021zbv.1	-	54	8407	c.8372C>T	c.(8371-8373)cCa>cTa	p.P2791L	COL12A1_uc021zbw.1_Missense_Mutation_p.P1627L|COL12A1_uc003phs.3_Missense_Mutation_p.P2791L|COL12A1_uc003pht.3_Missense_Mutation_p.P1627L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2791	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.P2790T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGAGGGCCTGGAGGACCCTG	0.478000														23			30		0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37913579	37913579	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:37913579G>T	uc004ddx.3	+	1	589	c.233G>T	c.(232-234)gGa>gTa	p.G78V	SYTL5_uc004ddu.3_Missense_Mutation_p.G78V|SYTL5_uc004ddv.3_Missense_Mutation_p.G78V	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	78	RabBD.				intracellular protein transport	membrane	Rab GTPase binding|metal ion binding	p.R77R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTTGACCGGGGAGACCCTTGT	0.517000														5			55		4.64241e-40	4.76327e-40	1	1	0
MCHR2	84539	broad.mit.edu	37	6	100403968	100403968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:100403968G>A	uc003pqh.1	-	1	371	c.56C>T	c.(55-57)tCc>tTc	p.S19F	MCHR2_uc003pqi.1_Missense_Mutation_p.S19F	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	19						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTATTCCAGGATTTGTTTAA	0.423000														64			55		0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053943	49053943	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49053943G>A	uc003cvk.1	-	8	1084	c.1064_splice	c.e8-1	p.D355_splice	DALRD3_uc003cvl.1_Splice_Site_p.D355_splice|DALRD3_uc003cvm.1_Splice_Site_p.D188_splice|DALRD3_uc010hko.1_Splice_Site_p.D188_splice|DALRD3_uc011bca.1_Splice_Site_p.D355_splice	NM_001009996	NP_060584	Q5D0E6	DALD3_HUMAN	Homo sapiens DALR anticodon binding domain containing 3 (DALRD3), transcript variant 1, mRNA.	355					arginyl-tRNA aminoacylation	cytoplasm	ATP binding|arginine-tRNA ligase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCAGGCTGGGTCTGAGGGAG	0.562000														53			42		0	0	1	0	0
LURAP1	541468	broad.mit.edu	37	1	46685580	46685580	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:46685580C>T	uc010oma.2	+	1	501	c.408C>T	c.(406-408)acC>acT	p.T136T	POMGNT1_uc001cpg.3_5'UTR|POMGNT1_uc001cpf.3_5'UTR	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	Homo sapiens chromosome 1 open reading frame 190 (C1orf190), mRNA.	136					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine production	cytoplasm											CCAGCACCACCGACCGGCTGG	0.642000														86			22		0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48385556	48385556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:48385556C>T	uc002efi.1	+	14	2491	c.2402C>T	c.(2401-2403)cCt>cTt	p.P801L	MIR548AE2_uc021thr.1_Intron|LONP2_uc002efj.1_Missense_Mutation_p.P757L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	801					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTCATTATTCCTCGGAGAAAT	0.448000														9			30		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39777066	39777066	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:39777066G>A	uc002hxh.2	-	5	1147	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	342	Coil 2.|Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TCAGCCCCTGGATCTGGGACA	0.607000														160			47		0	0	1	0	0
MSL1	339287	broad.mit.edu	37	17	38285607	38285607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38285607C>T	uc002hub.3	+	2	518	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	MSL1_uc002hua.4_Missense_Mutation_p.P105S|MSL1_uc002huc.2_Missense_Mutation_p.P105S|MSL1_uc021txa.1_Non-coding_Transcript|MSL1_uc002hud.3_5'Flank	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	Homo sapiens male-specific lethal 1 homolog (Drosophila) (MSL1), mRNA.	368	Pro-rich.				histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TAAAGAGGAACCCTGTGGTTC	0.428000														54			27		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681841	69681841	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:69681841G>A	uc003hee.3	+	0	129	c.104G>A	c.(103-105)tGg>tAg	p.W35*	UGT2B10_uc011cam.2_Nonsense_Mutation_p.W35*	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	35					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACAGCCTTTGGATGAATATG	0.443000														40			34		0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116988073	116988073	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:116988073A>C	uc003pxf.2	-	1	543	c.283T>G	c.(283-285)Tgt>Ggt	p.C95G	ZUFSP_uc010kef.2_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	95						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTAGATGCACAACCTGAAAGA	0.333000														64			22		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39088946	39088946	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:39088946G>A	uc002rrf.3	-	4	705	c.606C>T	c.(604-606)gtC>gtT	p.V202V	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Silent_p.V202V	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	202	UBA.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACATCCTCAGGACCGCTTGAC	0.433000														46			25		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237580362	237580362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:237580362G>A	uc001hyl.1	+	10	907	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	263	MIR 3.				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)			TGTTCATTATGAAGGTGGCGC	0.398000														33			12		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644818	207644818	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:207644818G>A	uc001hfw.3	+	8	1663	c.1544G>A	c.(1543-1545)tGg>tAg	p.W515*	CR2_uc001hfv.3_Nonsense_Mutation_p.W515*|CR2_uc009xch.3_Nonsense_Mutation_p.W515*|CR2_uc009xci.1_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	515	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ACAATTCCTTGGTTTATGGAG	0.388000														70			103		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891355	89891355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:89891355C>T	uc001pdf.4	+	6	948	c.839C>T	c.(838-840)cCc>cTc	p.P280L	NAALAD2_uc009yvx.3_Missense_Mutation_p.P280L|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.P280L|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	280	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGGGAATCCCCCGAATACCT	0.313000														124			83		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038628	75038628	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:75038628C>T	uc001dgg.3	-	13	2985	c.2766G>A	c.(2764-2766)ctG>ctA	p.L922L		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	922	Glu-rich.							p.A921D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCCTCTCTCAGGGCTGCTA	0.537000														157			47		0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835110	27835110	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:27835110C>T	uc003njx.3	-	0	250	c.198G>A	c.(196-198)aaG>aaA	p.K66K		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	66	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTAAGGCCTTCTTAAGGGCTG	0.587000														146			93		0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62339039	62339039	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62339039G>A	uc001ntm.1	-	3	497	c.351C>T	c.(349-351)acC>acT	p.T117T	EEF1G_uc010rlw.1_Silent_p.T167T	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	117	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGATGCCCAAGGTGGGGAACA	0.572000														12			5		0	0	1	0	0
ACOT6	641372	broad.mit.edu	37	14	74086379	74086379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:74086379C>T	uc001xop.3	+	1	791	c.460C>T	c.(460-462)Cct>Tct	p.P154S		NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN	Homo sapiens acyl-CoA thioesterase 6 (ACOT6), mRNA.	154						cytosol	carboxylesterase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ACCTTATTTTCCTCCTTCTAG	0.483000														24			30		0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8020163	8020163	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:8020163T>G	uc002gka.3	-	1	782	c.751A>C	c.(751-753)Agt>Cgt	p.S251R	ALOXE3_uc010cnr.3_Missense_Mutation_p.S95R|ALOXE3_uc010vuo.2_Missense_Mutation_p.S227R|ALOXE3_uc010vup.2_Non-coding_Transcript|TRNA_Lys_uc021tpo.1_5'Flank|TRNA_Gln_uc021tpp.1_5'Flank	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	95	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TGGGATACACTACCATCCGGT	0.567000														159			37		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85971952	85971952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:85971952C>T	uc001kcv.3	+	14	1676	c.1571C>T	c.(1570-1572)tCc>tTc	p.S524F	CDHR1_uc001kcw.3_Missense_Mutation_p.S524F|CDHR1_uc009xst.3_Missense_Mutation_p.S228F|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	524	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATCCACCCATCCACTGGGCTT	0.537000														111			34		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569061	49569061	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49569061C>T	uc021wxz.1	+	2	1586	c.1117C>T	c.(1117-1119)Cga>Tga	p.R373*	DAG1_uc021wya.1_Nonsense_Mutation_p.R373*|DAG1_uc021wyb.1_Nonsense_Mutation_p.R373*|DAG1_uc021wyc.1_Nonsense_Mutation_p.R373*|DAG1_uc021wyd.1_Nonsense_Mutation_p.R373*|DAG1_uc021wye.1_Nonsense_Mutation_p.R373*|DAG1_uc021wyf.1_Nonsense_Mutation_p.R373*|DAG1_uc021wyg.1_Nonsense_Mutation_p.R373*|DAG1_uc021wyh.1_Nonsense_Mutation_p.R373*|DAG1_uc021wyi.1_Nonsense_Mutation_p.R373*|DAG1_uc021wyj.1_Nonsense_Mutation_p.R373*|DAG1_uc021wyk.1_Nonsense_Mutation_p.R373*|DAG1_uc003cxc.4_Nonsense_Mutation_p.R373*	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	373	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATCCGGACTCGAGGCGCCAT	0.597000														136			111		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245848919	245848919	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:245848919G>A	uc001ibf.1	+	11	3074	c.2634G>A	c.(2632-2634)aaG>aaA	p.K878K	KIF26B_uc001ibg.1_Silent_p.K496K|KIF26B_uc001ibh.1_Silent_p.K120K	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	878					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTCTGACAAGGAGCTCACCG	0.667000														26			25		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18740248	18740248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:18740248C>T	uc009yht.2	-	7	914	c.724G>A	c.(724-726)Gac>Aac	p.D242N	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	242	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GTCTCTTTGTCTTCCAGGGGC	0.473000														163			128		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417841	57417841	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:57417841G>A	uc001cyp.3	-	4	613	c.546C>T	c.(544-546)ttC>ttT	p.F182F	C8B_uc010oon.2_Silent_p.F120F|C8B_uc010ooo.2_Silent_p.F130F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	182	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTGTTTGTGAACAAATTTA	0.443000														88			151		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28196959	28196959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:28196959G>A	uc001zbh.4	-	17	2032	c.1922C>T	c.(1921-1923)tCg>tTg	p.S641L	OCA2_uc010ayv.3_Missense_Mutation_p.S617L	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	641					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding	p.S641W(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGGACAAACGAATTGAGGAA	0.443000									Oculocutaneous Albinism					57			37		0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3381966	3381966	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:3381966T>G	uc010xhi.2	+	1	357	c.287T>G	c.(286-288)aTc>aGc	p.I96S	NFIC_uc002lxo.3_Missense_Mutation_p.I87S|NFIC_uc010xhh.2_Missense_Mutation_p.I87S|NFIC_uc010xhj.2_Missense_Mutation_p.I96S|NFIC_uc002lxp.3_Missense_Mutation_p.I96S	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	96					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GTGCTGAGCATCACCGGCAAG	0.682000														150			112		0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191334	149191334	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:149191334G>A	uc010lpi.2	-	1	556	c.285C>T	c.(283-285)atC>atT	p.I95I	ZNF746_uc003wfw.2_Silent_p.I95I	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	95					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCAGCCGCAGGATCCAGAAGT	0.677000														187			64		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003998	57003999	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:57003998_57003999CC>TT	uc001njo.3	-	0	929_930	c.480_481GG>AA	c.(478-483)ctggcc>ctAAcc	p.A161T	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	161						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ACAGGCATGGCCAGGAGGGCGG	0.634000														56			25		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006377	16006377	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:16006377G>A	uc002nbs.1	-	2	332	c.282C>T	c.(280-282)ccC>ccT	p.P94P	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	94					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGGGGAGATGGGTCCCATCC	0.597000														260			200		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43699348C>T	uc002ovy.3	-	3	889	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.E170K	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000														208			185		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21785991	21785991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:21785991G>A	uc001wag.3	+	9	1288	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E72K|RPGRIP1_uc001wai.3_Missense_Mutation_p.E72K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	430					response to stimulus|visual perception	cilium		p.R430*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGTTTTACTTGAGCTGTCCAG	0.502000														16			7		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527136	23527136	+	Missense_Mutation	SNP	C	T	T	rs113723046		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:23527136C>T	uc003jgo.3	+	10	2121	c.1939C>T	c.(1939-1941)Cgg>Tgg	p.R647W		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	647					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCTTTAGCCGGCAGTCAGT	0.622000										HNSCC(3;0.000094)				42			5		0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225266165	225266165	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:225266165A>T	uc002vnx.3	-	0	547	c.321T>A	c.(319-321)tgT>tgA	p.C107*	FAM124B_uc002vnw.3_Nonsense_Mutation_p.C107*	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	107							protein binding	p.L106L(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AAAAGTAGGGACACAGCCTTC	0.592000														32			26		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414446	105414446	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:105414446T>C	uc010axc.1	-	6	7462	c.7342A>G	c.(7342-7344)Agc>Ggc	p.S2448G	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S2348G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2448						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCCACGCTGGGCTGAGAC	0.632000														244			12		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36100427	36100427	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:36100427C>T	uc003zyv.3	+	10	1271	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	RECK_uc003zyw.3_Silent_p.I267I|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	395						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGCCATTTATCAATATACCTG	0.403000														10			25		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1046245	1046245	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:1046245C>A	uc002lqw.4	+	12	1693	c.1462C>A	c.(1462-1464)Cca>Aca	p.P488T	ABCA7_uc010dsb.1_Missense_Mutation_p.P350T	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	488					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCCTGGCCCAGCCGCGGA	0.657000														315			74		9.25274e-37	9.46205e-37	1	1	0
OR2M4	26245	broad.mit.edu	37	1	248402931	248402931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:248402931G>A	uc010pzh.2	+	0	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGGGAAAGTCGTCGCAAGGCC	0.483000														27			22		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97053792	97053792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:97053792G>A	uc003pos.2	+	4	765	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	FHL5_uc003pot.2_Missense_Mutation_p.E117K	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	117	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCGCAAAATGGAATTTAAGGG	0.363000														17			34		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738948	138738948	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:138738948A>C	uc003esy.1	-	0	821	c.556T>G	c.(556-558)Ttc>Gtc	p.F186V		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	186										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGGGGATGAACATACTTCTA	0.632000														114			3		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287704	46287704	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:46287704C>T	uc001van.1	+	2	624	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	SPERT_uc001vao.2_Silent_p.L146L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	182						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GAACAAGGCCCTGCGCGAGGA	0.627000														98			80		0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62416967	62416967	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62416967C>A	uc001nud.3	-	1	638	c.585G>T	c.(583-585)caG>caT	p.Q195H	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	195					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCGAGAGGCACTGCACATAGA	0.542000														103			96		2.25818e-43	2.32007e-43	1	1	0
TBX2	6909	broad.mit.edu	37	17	59485716	59485716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:59485716C>T	uc010wox.2	+	6	2269	c.1988C>T	c.(1987-1989)gCt>gTt	p.A663V	TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Missense_Mutation_p.A509V	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	663					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CCCGAGCTGGCTCTCCGCAAA	0.677000														10			7		0	0	1	0	0
UBE2H	7328	broad.mit.edu	37	7	129497352	129497352	+	Splice_Site	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:129497352A>C	uc003vpf.2	-	5	703	c.298_splice	c.e5+1	p.D100_splice	UBE2H_uc022aln.1_Splice_Site_p.D30_splice|UBE2H_uc003vpg.2_Intron	NM_003344	NP_001189427	P62256	UBE2H_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2H (UBE2H), transcript variant 1, mRNA.	100					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CAAACTCACCATAGAGAGCTG	0.338000														73			33		0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86509800	86509800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:86509800G>A	uc011kha.2	-	21	3262	c.3077C>T	c.(3076-3078)tCc>tTc	p.S1026F	KIAA1324L_uc003uie.3_Missense_Mutation_p.S859F|KIAA1324L_uc011kgz.2_Missense_Mutation_p.S912F|KIAA1324L_uc003uif.2_Missense_Mutation_p.S778F	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	1026						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATATTTGGGGATCTTGAGGT	0.348000														29			10		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38927433	38927434	+	Nonsense_Mutation	DNP	CT	TA	TA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38927433_38927434CT>TA	uc002hvf.3	-	1	542_543	c.496_497AG>TA	c.(496-498)aga>TAa	p.R166*		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	166	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGCGGTCAGTCTGGCATTGTCA	0.312000														52			16		0	0	1	0	0
MAFG	4097	broad.mit.edu	37	17	79880485	79880485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:79880485G>A	uc002kcm.3	-	2	730	c.485C>T	c.(484-486)tCg>tTg	p.S162L	MAFG_uc002kcn.3_Missense_Mutation_p.S162L	NM_032711	NP_116100	O15525	MAFG_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) (MAFG), transcript variant 2, mRNA.	162					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCGTCCCTACGATCGGGCATC	0.652000														19			17		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73567295	73567295	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:73567295C>T	uc001jrx.4	+	56	8712	c.8322C>T	c.(8320-8322)ttC>ttT	p.F2774F	CDH23_uc001jsg.4_Silent_p.F537F|CDH23_uc001jsh.4_Silent_p.F537F|CDH23_uc001jsi.4_Silent_p.F537F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2777	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGAAGAACTTCCATCTGCAGC	0.622000														30			44		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255178	51255178	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:51255178G>A	uc021vhh.1	-	0	1155	c.234C>T	c.(232-234)ttC>ttT	p.F78F	NRXN1_uc021vhg.1_Silent_p.F78F|NRXN1_uc021vhi.1_Silent_p.F78F|NRXN1_uc021vhj.1_Silent_p.F78F|NRXN1_uc021vhk.1_Silent_p.F78F	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	78	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCAGCTCCAGGAAGTCGCAGA	0.652000														18			15		0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39086356	39086356	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:39086356C>T	uc002oix.1	-	27	2301	c.2193G>A	c.(2191-2193)ctG>ctA	p.L731L	MAP4K1_uc002oiy.1_Silent_p.L731L	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	731	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGGGGTCACCAGCTTCACAG	0.572000														27			24		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38811551	38811551	+	Silent	SNP	C	T	T	rs143250519	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:38811551C>T	uc001zke.4	-	3	526	c.348G>A	c.(346-348)aaG>aaA	p.K116K	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_5'UTR|RASGRP1_uc010bbg.3_5'UTR|RASGRP1_uc001zkd.4_Silent_p.K116K	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	116	N-terminal Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CTGGTGAATTCTTTGCCAAAG	0.388000														73			48		0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78180377	78180377	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:78180377G>A	uc001dht.3	-	19	2577	c.2230C>T	c.(2230-2232)Cga>Tga	p.R744*	USP33_uc001dhs.3_Nonsense_Mutation_p.R465*|USP33_uc001dhu.3_Nonsense_Mutation_p.R713*|USP33_uc001dhv.3_Nonsense_Mutation_p.R549*|USP33_uc001dhw.3_Nonsense_Mutation_p.R736*	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	744	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGCCACTGTCGAGAAATATAA	0.373000														27			49		0	0	1	0	0
CHP1	11261	broad.mit.edu	37	15	41555046	41555047	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:41555046_41555047CC>TT	uc001znl.3	+	3	458_459	c.314_315CC>TT	c.(313-315)ccc>cTT	p.P105L	CHP1_uc021sjk.1_Non-coding_Transcript|CHP1_uc021sjl.1_Non-coding_Transcript	NM_007236	NP_009167	Q99653	CHP1_HUMAN	Homo sapiens calcium binding protein P22 (CHP), mRNA.	105					potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										GTGAATGGACCCGAACCACTCA	0.416000														100			59		0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427751	27427751	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:27427751G>A	uc010eyv.1	-	8	1105	c.783C>T	c.(781-783)ttC>ttT	p.F261F	SLC5A6_uc002rjd.3_Silent_p.F261F	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	261					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGACACCCCCGAAGGCCAAGG	0.582000														93			51		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085622	92085622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:92085622C>T	uc001pdj.4	+	0	361	c.344C>T	c.(343-345)gCc>gTc	p.A115V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	115	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCAATTCTGCCATATTAAAT	0.378000										TCGA Ovarian(4;0.039)				18			13		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206230980	206230981	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:206230980_206230981CC>TT	uc001hds.2	+	1	1271_1272	c.1113_1114CC>TT	c.(1111-1116)agcctc>agTTtc	p.L372F		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	372					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGACGGCAGCCTCTCGAGCCG	0.698000														3			5		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9836604	9836604	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:9836604C>T	uc003gmc.3	-	10	1381	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	SLC2A9_uc003gmd.3_Silent_p.E411E	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	440					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.F440S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GCTGGAAGAACTCACCAGTCA	0.532000														73			53		0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	734758	734758	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:734758G>A	uc002ciz.1	-	8	3109	c.2349C>T	c.(2347-2349)tgC>tgT	p.C783C	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	913										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				AGAGGTGGCCGCAGCCTGCGG	0.692000														19			3		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9580154	9580154	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:9580154C>T	uc010cod.3	+	4	925	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	USP43_uc002gma.4_5'UTR|USP43_uc010vva.2_Silent_p.L309L|USP43_uc010coe.3_Silent_p.L106L	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	309					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGTGGCAGCCCTGAGGAAGAT	0.562000														18			34		0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37425444	37425444	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:37425444C>T	uc011amu.2	+	2	1019	c.843C>T	c.(841-843)gcC>gcT	p.A281A	MPST_uc003aqi.1_3'UTR|MPST_uc003aqm.3_Silent_p.A261A|MPST_uc003aql.3_Silent_p.A261A|MPST_uc003aqj.3_Silent_p.A261A	NM_021126	NP_001123989	P25325	THTM_HUMAN	Homo sapiens mercaptopyruvate sulfurtransferase (MPST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CACTAGGGGCCTACCTCTGCG	0.637000														20			24		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205280897	205280897	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:205280897G>A	uc001hce.3	-	1	415	c.288C>T	c.(286-288)caC>caT	p.H96H		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	96	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCTCCGTATGTGCATCAGAT	0.488000														147			10		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182408	57182408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:57182408C>T	uc003hbk.2	+	7	3131	c.2740C>T	c.(2740-2742)Cct>Tct	p.P914S	KIAA1211_uc010iha.2_Missense_Mutation_p.P907S|KIAA1211_uc011bzz.1_Missense_Mutation_p.P824S|KIAA1211_uc003hbm.1_Missense_Mutation_p.P800S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	914								p.A913S(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAAGCAAGCCCCTTCCACCCG	0.687000														27			33		0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23899059	23899059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:23899059C>T	uc004dax.3	-	1	258	c.20G>A	c.(19-21)aGg>aAg	p.R7K	APOO_uc004day.4_Non-coding_Transcript	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.	7					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						CCCCACGGACCTCTGAATTAC	0.478000														6			36		0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396734	43396734	+	Silent	SNP	G	A	A	rs147319894		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:43396734G>A	uc001cik.2	-	2	783	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	86					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	AGCGGTTAACGAAAAGGCCCA	0.622000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			12		0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109042520	109042520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:109042520G>A	uc009zva.3	-	9	1374	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	CORO1C_uc001tnj.3_Missense_Mutation_p.S389F|CORO1C_uc010sxf.2_Missense_Mutation_p.S352F	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	389					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.D442N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GTGCTTCAAGGAGATGAGGAT	0.527000														4			33		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71255502	71255502	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:71255502C>T	uc011cas.2	+	2	258	c.177C>T	c.(175-177)atC>atT	p.I59I	SMR3A_uc003hfh.3_Silent_p.I59I	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	63	Pro-rich.					extracellular region		p.Y58Y(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CAGGGAGAATCCCACCTCCTC	0.597000														111			56		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	237028857	237028857	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:237028857C>T	uc002vvs.3	+	16	2734	c.2136C>T	c.(2134-2136)atC>atT	p.I712I	AGAP1_uc002vvt.3_Silent_p.I659I	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	712	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACGGTGGATCCGTGCCAAGT	0.667000														54			66		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423659	88423659	+	Splice_Site	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:88423659C>A	uc002bme.2	-	19	2482	c.2176_splice	c.e19-1	p.V726_splice	NTRK3_uc002bmh.2_Splice_Site_p.V704_splice|NTRK3_uc002bmf.2_Splice_Site_p.V712_splice|NTRK3_uc021sua.1_Splice_Site_p.V704_splice	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	726	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTCCTCCCACCTAAAAGGGG	0.502000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				30			17		2.32416e-17	2.35635e-17	1	1	0
GSTK1	373156	broad.mit.edu	37	7	142961652	142961653	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:142961652_142961653CC>TT	uc003wci.3	+	2	251_252	c.166_167CC>TT	c.(166-168)cca>TTa	p.P56L	GSTK1_uc011ksy.2_Intron|GSTK1_uc003wcj.3_Missense_Mutation_p.P56L|GSTK1_uc011ksz.2_Missense_Mutation_p.P56L	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	Homo sapiens glutathione S-transferase kappa 1 (GSTK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	56						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AAACAAGCCTCCAGGTCTGCTT	0.530000														213			69		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463960	179463960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179463960C>T	uc021vsy.1	-	238	49081	c.48856G>A	c.(48856-48858)Gaa>Aaa	p.E16286K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9981K|TTN_uc021vta.1_Missense_Mutation_p.E9914K|TTN_uc021vtb.1_Missense_Mutation_p.E9789K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17213	Fibronectin type-III 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATACATATTCATGGCCTTCT	0.428000														103			77		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46331304	46331304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:46331304G>A	uc002xto.3	-	3	856	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SULF2_uc002xtr.3_Missense_Mutation_p.R176W|SULF2_uc002xtq.3_Missense_Mutation_p.R176W|SULF2_uc010ghv.1_Missense_Mutation_p.R176W	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	176					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.R176Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACCCCGTTCCGACACAGCGTG	0.542000														44			55		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71395348	71395348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:71395348C>T	uc010dfm.3	-	21	3052	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	SDK2_uc002jjt.4_Missense_Mutation_p.D177N|SDK2_uc010dfn.2_Missense_Mutation_p.D697N	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1018	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.Y1017Y(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTTTTCCCATCGTAGCCTGGC	0.652000														37			25		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995794	143995794	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:143995794G>A	uc003yxk.1	-	4	843	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	280					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GAGGGCGGTTGAAGGCCAGTT	0.547000									Familial Hyperaldosteronism type I					33			14		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76462806	76462806	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:76462806G>A	uc010dhp.2	-	55	8996	c.8871C>T	c.(8869-8871)ttC>ttT	p.F2957F	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCACTCGTGGAACCAGTCGA	0.627000														50			42		0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20471157	20471157	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:20471157C>T	uc009vpp.1	+	3	497	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	90					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		ATCACACCATCGAGAACAACA	0.597000														34			10		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				122			188		1.03563e-105	1.07045e-105	1	1	0
OR2B11	127623	broad.mit.edu	37	1	247614683	247614683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247614683G>A	uc010pyx.2	-	0	602	c.602C>T	c.(601-603)aCc>aTc	p.T201I		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCCAGTATGGTGTCATTCAC	0.572000														43			26		0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226030159	226030159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:226030159G>A	uc001hpk.3	+	6	1104	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	EPHX1_uc001hpl.3_Missense_Mutation_p.D342N	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	342					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ATACCTGGAGGATGGAGGCCT	0.572000														93			36		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108455394	108455394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:108455394G>A	uc010ywk.2	+	3	461	c.379G>A	c.(379-381)Gga>Aga	p.G127R	RGPD4_uc002tdu.3_5'UTR	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	127					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACTTTTCCCAGGAAGTCCTGC	0.318000														126			105		0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96506961	96506961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:96506961G>A	uc003kmz.3	-	5	838	c.728C>T	c.(727-729)aCc>aTc	p.T243I	RIOK2_uc003kna.3_Missense_Mutation_p.T243I	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	243							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATCAATCATGGTGATATGGTC	0.318000														46			26		0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9075271	9075271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:9075271C>T	uc001qvd.3	+	5	655	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	PHC1_uc001qvc.1_Missense_Mutation_p.R122W|PHC1_uc010sgn.1_Missense_Mutation_p.R167W|PHC1_uc001qve.3_Missense_Mutation_p.R167W	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	167				LGR -> PGS (in Ref. 1; AAC51169).	multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AACCCTGGGTCGGAATGTGCC	0.557000														12			4		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45279034	45279034	+	Missense_Mutation	SNP	C	T	T	rs115427466	by1000genomes	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:45279034C>T	uc003bfn.3	-	12	1679	c.1528G>A	c.(1528-1530)Ggg>Agg	p.G510R	PHF21B_uc011aqk.2_Missense_Mutation_p.G456R|PHF21B_uc003bfm.3_Missense_Mutation_p.G306R|PHF21B_uc011aql.2_Missense_Mutation_p.G468R	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	510							zinc ion binding	p.G510W(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GTCCAGGGCCCGGCCAGCAGT	0.667000														205			104		0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475779	238475779	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:238475779C>T	uc010znl.2	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_015893	NP_056977	P81277	PRRP_HUMAN	Homo sapiens prolactin releasing hormone (PRLH), mRNA.	75						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		TGACCTGCTTCCCCCTGGAAG	0.672000														74			69		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855666	2855666	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:2855666G>A	uc022aqr.1	-	53	8634	c.8244C>T	c.(8242-8244)ttC>ttT	p.F2748F	CSMD1_uc011kwj.2_Silent_p.F2078F|CSMD1_uc010lrg.3_Silent_p.F759F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2749	Sushi 19.					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)		TGCCATTAGTGAATCCGTGGG	0.507000														111			59		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156771	22156771	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:22156771G>A	uc021urr.1	-	3	1214	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.S354F(1)|p.S354L(1)|p.S354S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTAGTAAGGATTGAGAACT	0.393000														43			18		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433232	40433232	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40433232T>G	uc002omp.4	-	1	1045	c.1037A>C	c.(1036-1038)tAt>tCt	p.Y346S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	346	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTTGACCACATAGGCTGGGCA	0.582000														60			31		0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52231614	52231614	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:52231614A>G	uc001cst.3	+	11	1136	c.953A>G	c.(952-954)gAa>gGa	p.E318G	OSBPL9_uc001css.3_Missense_Mutation_p.E305G|OSBPL9_uc009vza.3_Missense_Mutation_p.E283G|OSBPL9_uc001csu.3_Missense_Mutation_p.E310G|OSBPL9_uc001csv.3_Missense_Mutation_p.E135G|OSBPL9_uc001csw.3_Missense_Mutation_p.E287G|OSBPL9_uc001csy.3_Missense_Mutation_p.E122G|OSBPL9_uc001csz.3_Missense_Mutation_p.E122G|OSBPL9_uc001cta.3_Missense_Mutation_p.E190G|OSBPL9_uc001ctb.3_Missense_Mutation_p.E85G	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA.	300					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GATGCTGATGAATTCCATCAA	0.378000														71			23		0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7894035	7894035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:7894035C>T	uc001qtg.1	-	2	391	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	CLEC4C_uc001qth.1_Missense_Mutation_p.E73K|CLEC4C_uc001qti.1_Missense_Mutation_p.E42K	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	73					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TCCTTTCCTTCCATGACGCAG	0.413000														108			85		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35790527	35790527	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:35790527G>A	uc002nyy.2	+	4	684	c.486G>A	c.(484-486)ccG>ccA	p.P162P	MAG_uc002nyx.2_Silent_p.P162P|MAG_uc010eds.2_Silent_p.P137P|MAG_uc002nyz.2_Silent_p.P162P	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	162	Ig-like C2-type 1.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCATGGTGCCGGACAACTGCC	0.701000														37			21		0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36079603	36079603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:36079603G>A	uc010gmt.1	+	2	1454	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	CLIC6_uc002yuf.1_Missense_Mutation_p.G467E	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	485						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GAGAGTATCGGAAATTGCCCG	0.443000														44			47		0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50285961	50285961	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:50285961C>T	uc002ppn.3	+	3	664	c.453C>T	c.(451-453)atC>atT	p.I151I	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.3_Silent_p.I151I	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	151					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCGCTGACATCCCCCGCATCC	0.672000														22			26		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889190	38889190	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:38889190G>A	uc021wvy.1	-	25	4570	c.4371C>T	c.(4369-4371)ttC>ttT	p.F1457F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1457					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCGTCGGAGGGAAAGGAATGT	0.493000														26			20		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640164	156640165	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:156640164_156640165GG>AA	uc001fpq.3	-	3	3948_3949	c.3815_3816CC>TT	c.(3814-3816)ccc>cTT	p.P1272L	NES_uc021pbh.1_Missense_Mutation_p.P190L	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1272	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.P1272P(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGGCCCTCGGGGATCTCCCC	0.644000														86			39		0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000351	46000351	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:46000351G>A	uc002zfl.1	-	0	131	c.105C>T	c.(103-105)ccC>ccT	p.P35P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	35	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGGTCAGGCAGGGGGCGGTGC	0.692000														137			78		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67151177	67151177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:67151177G>A	uc010dfa.1	-	30	4556	c.3677C>T	c.(3676-3678)tCc>tTc	p.S1226F	ABCA10_uc010wqs.1_Missense_Mutation_p.S218F|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1226	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.S1226S(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AACACAAAAGGAAACATTTCT	0.289000														19			10		0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	695156	695156	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:695156C>T	uc002frw.3	+	3	1216	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	370					RNA processing		RNA binding|RNA methyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		TGCAGCTGGCCGAGAGCACTG	0.617000														107			51		0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206776555	206776555	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:206776555C>T	uc001heh.2	-	5	743	c.534G>A	c.(532-534)cgG>cgA	p.R178R	EIF2D_uc009xbw.2_Intron	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	178					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTTCCAGACCGCCTGGAAA	0.542000														48			47		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152826342	152826342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:152826342G>A	uc021zhb.1	-	6	995	c.772C>T	c.(772-774)Cct>Tct	p.P258S	SYNE1_uc003qot.4_Missense_Mutation_p.P265S|SYNE1_uc003qou.4_Missense_Mutation_p.P258S|SYNE1_uc010kjb.1_Missense_Mutation_p.P258S|SYNE1_uc003qpa.1_Missense_Mutation_p.P258S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	258	Actin-binding.|CH 2.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTACCTTCAGGATCTAGCAGT	0.428000										HNSCC(10;0.0054)				38			22		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72860302	72860302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:72860302C>T	uc010wrl.2	-	8	1186	c.1099G>A	c.(1099-1101)Gca>Aca	p.A367T	FDXR_uc010wri.2_Missense_Mutation_p.A272T|FDXR_uc010wrj.2_Missense_Mutation_p.A322T|FDXR_uc002jlw.3_Missense_Mutation_p.A81T|FDXR_uc002jlx.3_Missense_Mutation_p.A330T|FDXR_uc002jly.3_Missense_Mutation_p.A324T|FDXR_uc010wrk.2_Missense_Mutation_p.A355T|FDXR_uc010wrm.2_Missense_Mutation_p.A284T|FDXR_uc002jlz.3_Missense_Mutation_p.A316T|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	324					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CGGACACCTGCTGCCCGCCGC	0.667000														48			43		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599564	136599564	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:136599564T>C	uc003qgx.1	-	3	708	c.455A>G	c.(454-456)aAa>aGa	p.K152R	BCLAF1_uc003qgy.1_Missense_Mutation_p.K150R|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.K150R|BCLAF1_uc003qgw.1_Missense_Mutation_p.K152R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	152					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACAGGAGATTTGCTATATGG	0.438000														70			37		0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542540	21542541	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:21542540_21542541TC>GT	uc001vzp.3	+	2	680_681	c.651_652TC>GT	c.(649-654)cttcct>ctGTct	p.P218S	ARHGEF40_uc001vzn.1_Missense_Mutation_p.P218S|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	218					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCCCTCCACTTCCTGAGGAGGC	0.614000														30			15		0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631024	67631024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:67631024C>T	uc002sdz.1	+	4	1349	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	404						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGAACTCTTTCCTTCTAAAAC	0.353000														54			40		0	0	1	0	0
ODF3L2	284451	broad.mit.edu	37	19	474703	474703	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:474703G>A	uc002lor.3	-	0	281	c.45C>T	c.(43-45)gcC>gcT	p.A15A	ODF3L2_uc010drp.3_Silent_p.A15A	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.	15										large_intestine(1)|lung(2)	3						GGCCAAGGGGGGCTGTGGCCA	0.711000														13			13		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183479380	183479380	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:183479380G>T	uc003fly.2	+	13	1937	c.1742G>T	c.(1741-1743)gGa>gTa	p.G581V		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	581					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTATAACAGGAGGACTTGGA	0.438000														65			76		8.6838e-40	8.898e-40	1	1	0
OR4S2	219431	broad.mit.edu	37	11	55418502	55418502	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55418502C>T	uc001nhs.1	+	0	123	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGGAAATCTCCTCATCATGC	0.393000														66			51		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899048	205899048	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:205899048G>C	uc001hdp.3	-	5	803	c.689C>G	c.(688-690)tCc>tGc	p.S230C	SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Missense_Mutation_p.S230C	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	230						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCCTGTGTAGGAGGGGATGGT	0.567000														55			47		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154185346	154185346	+	Silent	SNP	C	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:154185346C>G	uc004fmt.3	-	10	1809	c.1638G>C	c.(1636-1638)cgG>cgC	p.R546R		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	546	F5/8 type A 2.|Plastocyanin-like 3.		R -> W (in HEMA; mild; dbSNP:rs28937277).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.P545P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGTCAGGCACCGAGGATCTG	0.413000														12			98		0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361825	51361825	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:51361825T>C	uc021uyi.1	+	3	645	c.604T>C	c.(604-606)Tgg>Cgg	p.W202R	KLK3_uc002pts.1_Missense_Mutation_p.W202R|KLK3_uc002ptr.1_Missense_Mutation_p.W159R|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	202	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.R201R(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGCTGGACGCTGGACAGGGGG	0.522000														112			95		0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14077499	14077499	+	Silent	SNP	G	A	A	rs145518949		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:14077499G>A	uc002mxv.3	-	12	2069	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G		NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	599					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGGCCCGACGCCCTCAGGCA	0.672000														184			5		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183563	197183563	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:197183563C>A	uc002utm.1	-	8	2234	c.2051G>T	c.(2050-2052)tGt>tTt	p.C684F	HECW2_uc002utl.1_Missense_Mutation_p.C328F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	684					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.C684S(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCTGCTGCACAGGCTCCGTC	0.602000														45			35		5.71845e-15	5.78241e-15	1	1	0
MICAL3	57553	broad.mit.edu	37	22	18300618	18300618	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:18300618G>A	uc002zng.4	-	25	5162	c.4809C>T	c.(4807-4809)tcC>tcT	p.S1603S	MICAL3_uc011agl.2_Silent_p.S1519S|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1603						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.S1603S(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCTCTTCACGGACTTCTCCC	0.692000														57			3		0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26428952	26428952	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:26428952T>A	uc011dkl.1	+	4	864	c.834T>A	c.(832-834)caT>caA	p.H278Q	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		TTTAGCAGCATCTCATGACAT	0.428000														294			60		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140097	56140097	+	Splice_Site	SNP	T	A	A	rs140553751		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:56140097T>A	uc002xyn.4	+	9	1482	c.1319_splice	c.e9-1	p.G440_splice	PCK1_uc010zzm.2_Splice_Site_p.G123_splice	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	440					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGCTAAAGGTGTCCCTCTAG	0.468000														140			15		0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823716	47823716	+	Missense_Mutation	SNP	C	T	T	rs146163744		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:47823716C>T	uc002pgj.1	+	1	731	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	228					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.R228R(2)|p.R228W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CATCCTGCTCCGGACGTGGAG	0.612000														137			116		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632510	179632510	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179632510G>A	uc021vsy.1	-	39	9672	c.9447C>T	c.(9445-9447)atC>atT	p.I3149I	TTN_uc021vsz.1_Silent_p.I3103I|TTN_uc021vta.1_Silent_p.I3103I|TTN_uc021vtb.1_Silent_p.I3103I|TTN_uc002unb.2_Silent_p.I3149I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3149							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATACTTCGGATGCGAACAT	0.403000														112			88		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856098	54856098	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:54856098C>T	uc002rxu.3	+	13	2076	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	SPTBN1_uc002rxv.1_Silent_p.I609I|SPTBN1_uc002rxx.3_Silent_p.I596I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	609					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCCAGGTGATCCGAGACCGCG	0.607000														135			115		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160953628	160953628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:160953628C>T	uc003qtl.3	-	38	6016	c.5896G>A	c.(5896-5898)Gaa>Aaa	p.E1966K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4474	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGCACACTTCATTCTCAATA	0.423000														37			16		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302799	163302799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:163302799G>A	uc002uch.2	-	6	1512	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	KCNH7_uc002uci.3_Missense_Mutation_p.S421F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	428					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GAAGGCTGCAGAGTAGGGAGT	0.428000														31			23		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644410	18644410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:18644410G>A	uc001rdt.3	+	18	2704	c.2588G>A	c.(2587-2589)aGa>aAa	p.R863K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R904K|PIK3C2G_uc010sic.2_Missense_Mutation_p.R682K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	863					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAATTGGCAGACTAGAAGAG	0.333000														56			38		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94032105	94032105	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:94032105G>A	uc011cdt.2	+	4	993	c.735_splice	c.e4+1	p.E245_splice	GRID2_uc010ikx.3_Splice_Site_p.E245_splice|GRID2_uc011cdu.2_Splice_Site_p.E150_splice|GRID2_uc011cdv.1_Splice_Site	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	245					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CATTACTGAGGTAAGTGAAAA	0.413000														30			33		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70350930	70350930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:70350930G>A	uc003hek.4	-	4	1353	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	UGT2B4_uc011cap.2_Missense_Mutation_p.P300S|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	436					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACTCACAAAGGATCATTAATT	0.378000														66			52		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914959	46914959	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:46914959T>C	uc002pep.3	-	0	1961	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	370						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AGCTGGGGCCTCTGCCCTCTG	0.607000														374			5		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16045048	16045048	+	Silent	SNP	C	T	T	rs140733161		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:16045048C>T	uc002nbu.2	-	1	207	c.171G>A	c.(169-171)caG>caA	p.Q57Q	CYP4F11_uc010eab.1_Silent_p.Q57Q|CYP4F11_uc002nbt.2_Silent_p.Q57Q	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	57					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAAACCAGTTCTGTTTCGGGG	0.612000														76			53		0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41265055	41265055	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:41265055G>C	uc003azh.3	+	1	218	c.117G>C	c.(115-117)agG>agC	p.R39S	XPNPEP3_uc011aox.2_Missense_Mutation_p.R39S|XPNPEP3_uc003azi.3_5'UTR|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	39					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TCCCAGAAAGGAGGATTCCAA	0.458000														82			99		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138644168	138644168	+	Missense_Mutation	SNP	G	A	A	rs137852267		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:138644168G>A	uc004fas.1	+	7	1353	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	F9_uc004fat.1_Missense_Mutation_p.G404R	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	442	Peptidase S1.		G -> E (in HEMB).|G -> R (in HEMB; severe; Angers).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGGCAAATATGGAATATATAC	0.398000														6			44		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816721	90816721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:90816721C>T	uc003hst.3	+	0	670	c.599C>T	c.(598-600)tCa>tTa	p.S200L	MMRN1_uc010iku.3_Missense_Mutation_p.S166L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	200					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TACCAAAAATCAAATTTCGAA	0.448000														17			16		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10443985	10443985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:10443985C>T	uc010coi.3	-	10	1062	c.934G>A	c.(934-936)Gat>Aat	p.D312N	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.D312N|MYH2_uc010coj.3_Missense_Mutation_p.D312N	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	312	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATGGGTAATCATATGGGTTC	0.373000														34			38		0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12865573	12865573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:12865573C>T	uc002mux.3	+	2	455	c.455C>T	c.(454-456)cCc>cTc	p.P152L		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	152					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						AAGCGCTTCCCCACCATAGAC	0.687000														10			8		0	0	1	0	0
SORD	6652	broad.mit.edu	37	15	45357500	45357500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:45357500G>A	uc001zul.4	+	4	637	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	SORD_uc010uel.2_Non-coding_Transcript|SORD_uc010bdz.3_Missense_Mutation_p.A74T	NM_003104	NP_003095	Q00796	DHSO_HUMAN	Homo sapiens sorbitol dehydrogenase (SORD), transcript variant 1, mRNA.	153					L-xylitol catabolic process|fructose biosynthetic process|glucose metabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TGAGGAAGGCGCCCTGATCGA	0.488000														194			50		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846528	228846528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:228846528C>T	uc002vpq.2	-	11	5055	c.5008G>A	c.(5008-5010)Gat>Aat	p.D1670N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D1641N|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1670						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGAAGATATCACCCACTTTC	0.478000														40			35		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304559	53304559	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:53304559A>G	uc002qad.3	-	3	696	c.539T>C	c.(538-540)aTt>aCt	p.I180T	ZNF28_uc002qac.3_Missense_Mutation_p.I126T|ZNF28_uc010eqe.3_Missense_Mutation_p.I126T|ZNF28_uc021uza.1_Missense_Mutation_p.I127T	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K179fs*4(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCTACAACAAATTCTTTGGGA	0.368000														170			48		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745809	32745809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:32745809C>T	uc001bux.3	+	11	1463	c.1325C>T	c.(1324-1326)cCa>cTa	p.P442L	LCK_uc001buy.3_Missense_Mutation_p.P442L|LCK_uc001buz.3_Missense_Mutation_p.P472L|LCK_uc010ohc.1_Missense_Mutation_p.P486L|LCK_uc001bva.3_Missense_Mutation_p.P449L	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	442	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ATCCCTTACCCAGGTTAGAGC	0.498000			T	TRB@	T-ALL									95			17		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40366207	40366208	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:40366207_40366208CC>TT	uc002omp.4	-	29	14034_14035	c.14026_14027GG>AA	c.(14026-14028)ggc>AAc	p.G4676N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4676	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCAGCGGGCCGTCGGTGGCG	0.703000														95			34		0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67432187	67432187	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:67432187G>A	uc010vjm.2	-	7	1159	c.855C>T	c.(853-855)caC>caT	p.H285H		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	285						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GTGGTGGGCGGTGCTGCACGA	0.622000														143			76		0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475857	74475857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:74475857G>A	uc002jrq.2	-	3	611	c.317C>T	c.(316-318)cCt>cTt	p.P106L	RHBDF2_uc021udh.1_Missense_Mutation_p.P77L|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.P77L|RHBDF2_uc002jrs.1_Missense_Mutation_p.P77L	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	106					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCGGAAGCCAGGGCGCTTCTC	0.647000														34			27		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921760	130921760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:130921760C>T	uc001uil.2	-	9	1898	c.1682G>A	c.(1681-1683)gGc>gAc	p.G561D	RIMBP2_uc001uim.3_Missense_Mutation_p.G469D	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	561	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACGGTCACGCCCTTGGCCTC	0.687000														2			11		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746477	158746477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:158746477G>A	uc010pir.2	-	0	949	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GAAAGTCAAAGATGAGCAAGA	0.378000														81			58		0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910146	108910146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:108910146G>A	uc002tdy.3	+	1	476	c.23G>A	c.(22-24)gGg>gAg	p.G8E	SULT1C2_uc010ywp.1_5'UTR|SULT1C2_uc010ywq.2_Missense_Mutation_p.G8E|SULT1C2_uc002tdx.3_Missense_Mutation_p.G8E	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	8					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCAGACCTGGGGAAACAGATA	0.483000														50			38		0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152095957	152095957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:152095957G>A	uc010ipl.1	-	6	1649	c.559C>T	c.(559-561)Cca>Tca	p.P187S	SH3D19_uc003imc.2_Missense_Mutation_p.P187S|SH3D19_uc003ime.2_Missense_Mutation_p.P187S|SH3D19_uc010ipm.2_Missense_Mutation_p.P187S	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	187	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGGTTGGCTGGGGGCCCTTCT	0.572000														408			194		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506959	74506959	+	Silent	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:74506959A>G	uc001dfy.4	-	6	1848	c.1656T>C	c.(1654-1656)gtT>gtC	p.V552V	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	552										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTTTTTGCTTAACAATCAGGC	0.313000														23			6		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62949984	62949984	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:62949984C>T	uc002alb.4	+	5	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	225	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGATGACATCCTGAATGGCT	0.498000														72			47		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570124	136570124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:136570124C>T	uc002tuu.1	-	6	2121	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	704	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCAATGGTATCATAGCTAGGG	0.552000														71			66		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37032697	37032697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:37032697G>A	uc002rpl.3	+	13	1581	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	VIT_uc002rpm.3_Missense_Mutation_p.E412K|VIT_uc010ezv.3_Missense_Mutation_p.E390K|VIT_uc010ezw.3_Missense_Mutation_p.E391K	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	412	VWFA 1.					proteinaceous extracellular matrix		p.E426*(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAAAGTGGAGGAGGCTTCAAG	0.498000														129			53		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643672	94643672	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:94643672C>T	uc001dqj.4	-	20	2901	c.2532G>A	c.(2530-2532)gtG>gtA	p.V844V	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.V410V	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	844	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTCCAAATATCACCCCCAAGT	0.423000														46			72		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40589724	40589724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:40589724G>A	uc001zld.3	-	12	1622	c.1321C>T	c.(1321-1323)Cca>Tca	p.P441S	PLCB2_uc010bbo.3_Missense_Mutation_p.P441S|PLCB2_uc010ucm.2_Missense_Mutation_p.P441S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	441	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCACTCACTGGGAACTTTTCC	0.597000														63			65		0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7320368	7320368	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:7320368G>A	uc003wrl.3	-	1	242	c.75C>T	c.(73-75)gcC>gcT	p.A25A	SPAG11B_uc003wrg.1_Silent_p.A25A|SPAG11B_uc003wrh.1_Silent_p.A25A|SPAG11B_uc003wrk.3_Silent_p.A25A|SPAG11B_uc003wrm.3_Silent_p.A25A	NM_058201	NP_478108	Q08648	SG11B_HUMAN	Homo sapiens sperm associated antigen 11B (SPAG11B), transcript variant D, mRNA.	25					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCACATGTCTGGCTTGAGACG	0.587000														144			41		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202484	39202484	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:39202484G>A	uc003jls.3	-	0	646	c.579C>T	c.(577-579)ttC>ttT	p.F193F	FYB_uc003jlt.3_Silent_p.F193F|FYB_uc003jlu.3_Silent_p.F193F|FYB_uc011cpl.2_Silent_p.F203F	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	193					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CGGGTTTGGGGAAGAGGGGCT	0.493000														42			33		0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75830736	75830736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:75830736C>T	uc001jwd.3	+	3	488	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	VCL_uc009xrr.3_5'UTR|VCL_uc010qky.1_Missense_Mutation_p.R39C|VCL_uc001jwe.3_Missense_Mutation_p.R132C|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	132	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TTTTCAGGTCCGTAAAATTAT	0.368000														23			14		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103038452	103038452	+	Missense_Mutation	SNP	C	T	T	rs144199565		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:103038452C>T	uc003vbz.3	-	8	1160	c.898G>A	c.(898-900)Gga>Aga	p.G300R	SLC26A5_uc003vbt.2_Missense_Mutation_p.G300R|SLC26A5_uc003vbu.2_Missense_Mutation_p.G300R|SLC26A5_uc003vbv.2_Missense_Mutation_p.G300R|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.G300R	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	300					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.G300*(4)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATGCCAGTTCCCATTACGACC	0.363000														53			71		0	0	1	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	138774	138774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrGL000213.1:138774C>T	uc011mfl.1	-	0	562	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	172			E -> Q.			plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TACCTCTTTTCCTTGTCCCTC	0.582000														11			18		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238303650	238303650	+	Missense_Mutation	SNP	G	A	A	rs144651558		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:238303650G>A	uc002vwl.2	-	2	574	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.R97C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	97	Nonhelical region.|VWFA 1.				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)		TGTTTAGTACGATACGTATTT	0.388000														67			55		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96495102	96495102	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:96495102G>A	uc001kjv.4	+	8	1700	c.1374G>A	c.(1372-1374)ctG>ctA	p.L458L	CYP2C19_uc001kjw.4_Silent_p.L399L|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	458					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACTTTAACCTGAAATCTCAGG	0.468000														66			63		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36625327	36625328	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:36625327_36625328CC>TT	uc002xhl.3	-	6	3030_3031	c.2821_2822GG>AA	c.(2821-2823)ggt>AAt	p.G941N	TTI1_uc002xhm.3_Missense_Mutation_p.G941N	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	941							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAGAAAGTCACCACACTTGCTT	0.540000														126			75		0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684907	80684907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:80684907C>T	uc002kfu.3	+	5	840	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	FN3KRP_uc010wvr.2_Missense_Mutation_p.H214Y	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	Homo sapiens fructosamine 3 kinase related protein (FN3KRP), mRNA.	264							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTCCGCCTACCACGGCAAAAT	0.507000														58			69		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121458807	121458807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:121458807G>A	uc001pxx.3	+	27	4022	c.3893G>A	c.(3892-3894)gGa>gAa	p.G1298E	SORL1_uc010rzp.1_Missense_Mutation_p.G144E|SORL1_uc010rzq.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1298	LDL-receptor class A 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.G1298R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTCTGTGACGGAATCATCCAG	0.572000														111			34		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:55861593G>A	uc010rix.2	+	0	810	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(30)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453000														73			4		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9489684	9489684	+	Silent	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:9489684C>A	uc003brt.3	+	14	2532	c.2097C>A	c.(2095-2097)acC>acA	p.T699T	SETD5_uc003brs.1_Silent_p.T680T|SETD5_uc003bru.3_Silent_p.T601T|SETD5_uc003brv.3_Silent_p.T588T|SETD5_uc010hck.3_Silent_p.T181T|SETD5_uc003brx.3_Silent_p.T368T	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	699								p.S699*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACCCCAAAACCAAAAAGGTAA	0.433000														11			10		1.3612e-06	1.37102e-06	1	1	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217100	53217100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:53217100C>T	uc001vgx.1	+	6	1546	c.473C>T	c.(472-474)tCc>tTc	p.S158F	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.S158F|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.S158F|HNRNPA1L2_uc021rjy.1_Missense_Mutation_p.S158F	NM_001011724	NP_001011725	Q32P51	RA1L2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A1-like 2 (HNRNPA1L2), transcript variant 1, mRNA.	158	Globular B domain.|RRM 2.				RNA splicing|mRNA processing|mRNA transport	cytoplasm|spliceosomal complex	RNA binding|nucleotide binding			cervix(1)|large_intestine(1)|lung(5)	7						GACCATGACTCCGTGGATAAG	0.433000														66			40		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314540	54314540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:54314540G>A	uc002qcj.4	-	2	593	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.P125S|NLRP12_uc002qci.4_Missense_Mutation_p.P125S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.P125S	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	125					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.P125R(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTTTCCTGGGGATCTAGGGGA	0.532000														133			103		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10299903	10299903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:10299903C>T	uc002gmm.2	-	31	4590	c.4495G>A	c.(4495-4497)Gaa>Aaa	p.E1499K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1499					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTAGCGTTTCGAGTTGATCC	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					15			7		0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137484037	137484037	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:137484037C>T	uc003erm.2	+	0	904	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	137					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CGCCCTACTCCCTGCTGGACC	0.721000														15			8		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28919905	28919905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:28919905G>A	uc002kwp.3	+	10	1816	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	535					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCCGGAAACGGAGCCAAAGAT	0.413000														51			58		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2537724	2537724	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:2537724C>T	uc001ajy.2	-	7	927	c.713G>A	c.(712-714)tGg>tAg	p.W238*	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	238					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.R237W(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GTCGTCGTTCCAGATGAAGAG	0.647000														41			69		0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147175	52147175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52147175C>T	uc002pxf.4	-	4	989	c.869G>A	c.(868-870)gGa>gAa	p.G290E		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	290	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGGCTTTTCCCTCCCGGAA	0.597000														65			45		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53684914	53684914	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:53684914A>G	uc003dgv.4	+	3	755	c.592A>G	c.(592-594)Aat>Gat	p.N198D	CACNA1D_uc003dgu.4_Missense_Mutation_p.N198D|CACNA1D_uc003dgy.4_Missense_Mutation_p.N198D	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	198					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAATGGATGGAATTTACTGGA	0.378000														70			43		0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96101487	96101487	+	Silent	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:96101487T>A	uc001kjq.1	-	13	1675	c.1587A>T	c.(1585-1587)atA>atT	p.I529I		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	529						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATTCCACATTTATAAGGTGAG	0.274000														38			16		0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27209606	27209606	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:27209606G>A	uc002hdc.3	-	4	573	c.450C>T	c.(448-450)ctC>ctT	p.L150L		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	150					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGGTGAAGCTGAGGATCTCAA	0.577000														98			109		0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85590219	85590219	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:85590219G>A	uc010ysn.2	+	4	472	c.130_splice	c.e4-1	p.I44_splice	ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spf.4_Splice_Site_p.I44_splice|ELMOD3_uc002spg.4_Splice_Site_p.I44_splice|ELMOD3_uc002sph.4_Splice_Site_p.I44_splice|ELMOD3_uc010yso.2_Splice_Site|ELMOD3_uc010ysp.2_Splice_Site	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	Homo sapiens ELMO/CED-12 domain containing 3 (ELMOD3), transcript variant 1, mRNA.	44					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TGCCTCTACAGATCTCAGAGT	0.507000														25			17		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1371150	1371150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:1371150G>A	uc002fsp.3	-	28	3171	c.2951C>T	c.(2950-2952)gCg>gTg	p.A984V	MYO1C_uc002fsn.3_Missense_Mutation_p.A965V|MYO1C_uc002fso.3_Missense_Mutation_p.A949V|MYO1C_uc010vqj.1_Missense_Mutation_p.A949V	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	984					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTATTGTCCGCACGCTGTAC	0.582000														67			3		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424116	125424116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:125424116G>A	uc022bmz.1	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ACAGTGATAGGAAACCTGCTT	0.493000														3			41		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551095	248551095	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:248551095C>T	uc001iei.1	+	0	186	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCCTCCTCAGCCACC	0.488000														36			16		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469293	10469293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:10469293G>A	uc003wtc.3	-	3	2544	c.2315C>T	c.(2314-2316)tCg>tTg	p.S772L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	772					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGGCCGGCGAGCATGTCCT	0.662000														154			43		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580490	120580490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:120580490G>A	uc001txo.3	-	43	5663	c.5650C>T	c.(5650-5652)Cgg>Tgg	p.R1884W		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1884					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCAACACCCGGTTCCGCCGC	0.622000														48			55		0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150922936	150922936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:150922936C>T	uc001evu.2	+	12	1773	c.1583C>T	c.(1582-1584)tCa>tTa	p.S528L	SETDB1_uc009wmf.2_Missense_Mutation_p.S529L|SETDB1_uc001evv.2_Missense_Mutation_p.S528L|SETDB1_uc009wmg.2_Missense_Mutation_p.S528L	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATTTGCAGATCACCTTTAGGC	0.547000														100			72		0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27308664	27308664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:27308664C>T	uc002hdp.2	-	1	643	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.R150Q|SEZ6_uc002hdq.1_Missense_Mutation_p.R25Q|SEZ6_uc010crz.1_Missense_Mutation_p.R150Q	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	150	Pro-rich.					integral to membrane|plasma membrane		p.L149F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGCTGTGATTCGAAGCATAGG	0.642000														8			22		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949594	45949594	+	Silent	SNP	G	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:45949594G>T	uc001nbv.1	+	11	1839	c.1728G>T	c.(1726-1728)ctG>ctT	p.L576L	GYLTL1B_uc001nbw.1_Silent_p.L545L|GYLTL1B_uc001nbx.1_Silent_p.L576L	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	576					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGGCCTTGCTGGATGCGGGCA	0.632000														73			43		1.11015e-26	1.13225e-26	1	1	0
CMA1	1215	broad.mit.edu	37	14	24974803	24974803	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24974803C>T	uc001wpp.1	-	4	693	c.663G>A	c.(661-663)cgG>cgA	p.R221R	CMA1_uc010alx.1_Silent_p.R110R	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	221	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TTGCATCCGACCGTCCATAGG	0.602000														33			39		0	0	1	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959248	183959248	+	RNA	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:183959248G>A	uc003ivi.4	+	0		c.431G>A								Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA.																		AAATGAAACGGGATGACCCCA	0.428000														9			10		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52596091	52596091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:52596091C>T	uc002lfs.3	-	7	795	c.623G>A	c.(622-624)aGa>aAa	p.R208K	CCDC68_uc002lft.3_Missense_Mutation_p.R208K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	208										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGACAGTTTTCTTTCTAGTAG	0.363000														20			6		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609155	32609155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:32609155G>A	uc003obr.3	+	1	204	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Missense_Mutation_p.E51K|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	51	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTACACCCATGAATTTGATGG	0.532000														57			71		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640206	176640206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:176640206G>A	uc001gkz.3	+	3	3256	c.2092G>A	c.(2092-2094)Ggt>Agt	p.G698S	PAPPA2_uc001gky.1_Missense_Mutation_p.G698S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	698	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGACCTTGCAGGTGCTGCCAC	0.507000														59			39		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476829	57476829	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:57476829C>A	uc009vzx.1	-	12	1881	c.1561G>T	c.(1561-1563)Gag>Tag	p.E521*	DAB1_uc001cyt.1_Nonsense_Mutation_p.E519*|DAB1_uc001cyq.1_Nonsense_Mutation_p.E519*|DAB1_uc001cyr.1_Nonsense_Mutation_p.E435*|DAB1_uc009vzw.1_Nonsense_Mutation_p.E503*|DAB1_uc001cys.1_Nonsense_Mutation_p.E521*	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	554					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTCTTGCTCTTCGCTTTTG	0.413000														49			66		1.37693e-34	1.40714e-34	1	1	0
C3orf15	89876	broad.mit.edu	37	3	119469924	119469924	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:119469924C>T	uc003ede.4	+	16	2361	c.2284C>T	c.(2284-2286)Caa>Taa	p.Q762*	C3orf15_uc010hqz.3_Nonsense_Mutation_p.Q700*|C3orf15_uc011bjd.2_Nonsense_Mutation_p.Q636*|C3orf15_uc011bje.2_Nonsense_Mutation_p.Q742*|C3orf15_uc003edg.4_Non-coding_Transcript|C3orf15_uc003edh.4_Non-coding_Transcript	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	598						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GAAAGAAACTCAAAATGAGAA	0.413000														25			32		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23624993	23624993	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:23624993G>A	uc003swk.2	-	0	1154	c.504C>T	c.(502-504)atC>atT	p.I168I						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TAGGACCCAAGATCCTTTCCA	0.488000														49			27		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43414809	43414809	+	Missense_Mutation	SNP	A	G	G	rs140437421	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:43414809A>G	uc002ovj.1	-	2	728	c.629T>C	c.(628-630)aTt>aCt	p.I210T	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.I210T	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	211	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGTCCTGCAATATACTTTGT	0.493000														309			58		0	0	1	0	0
AK057473	0	broad.mit.edu	37	17	20805693	20805693	+	RNA	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:20805693T>C	uc002gyg.1	+	3		c.877T>C			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		GGCGCCGGCTTCACCCTCGGC	0.557000														43			6		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253509	65253509	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:65253509C>T	uc001xht.3	-	14	3225	c.3174G>A	c.(3172-3174)ggG>ggA	p.G1058G	SPTB_uc001xhr.3_Silent_p.G1058G|SPTB_uc001xhs.3_Silent_p.G1058G|SPTB_uc001xhu.3_Silent_p.G1058G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1058					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGCTGACTTCCCCCAGCAAGT	0.602000														45			56		0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524113	73524113	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:73524113G>A	uc004ebs.4	+	0	89	c.12G>A	c.(10-12)aaG>aaA	p.K4K		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	4							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TGAGCAGTAAGGATTTCTTCG	0.612000														1			10		0	0	1	0	0
COMMD9	29099	broad.mit.edu	37	11	36302279	36302279	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:36302279G>A	uc001mwn.4	-	1	197	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	COMMD9_uc009ykj.3_Intron|COMMD9_uc010rfb.1_Nonsense_Mutation_p.Q54*	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	Homo sapiens COMM domain containing 9 (COMMD9), transcript variant 1, mRNA.	54										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GCCTCCTCCTGGGTCACAGAC	0.463000														78			58		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314082	48314082	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:48314082A>G	uc003toq.2	+	16	4843	c.4819A>G	c.(4819-4821)Agc>Ggc	p.S1607G	ABCA13_uc010kyr.2_Missense_Mutation_p.S1110G|ABCA13_uc022acp.1_Missense_Mutation_p.S106G	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1607					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCTTGCCTTCAGCTTATCTCA	0.348000														123			26		0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74963887	74963888	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:74963887_74963888GG>AA	uc002ayn.3	-	5	880_881	c.392_393CC>TT	c.(391-393)tcc>tTT	p.S131F	EDC3_uc002ayo.3_Missense_Mutation_p.S131F|EDC3_uc002aym.3_Missense_Mutation_p.S131F	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	131					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTGCTGCGGGGAAACGGCAAC	0.520000														96			79		0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518896	129518896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:129518896G>A	uc011muv.2	-	0	616	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.	176						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGCATGGCTGGGAAGAAGCCA	0.527000														4			55		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811773	25811773	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:25811773C>T	uc003nfh.4	-	10	1147	c.1031_splice	c.e10-1	p.G344_splice	SLC17A1_uc011djy.2_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.G344_splice|SLC17A1_uc010jqc.1_Splice_Site_p.G288_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	344					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAGGAGAAATCCTGGGGAGTG	0.473000														45			35		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153035694	153035694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:153035694C>T	uc010nuk.2	+	8	2117	c.1846C>T	c.(1846-1848)Cca>Tca	p.P616S	PLXNB3_uc011mzb.1_Missense_Mutation_p.P129S|PLXNB3_uc011mzc.2_Missense_Mutation_p.P275S|PLXNB3_uc004fii.2_Missense_Mutation_p.P593S|PLXNB3_uc011mzd.1_Missense_Mutation_p.P232S	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	593					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTAACCCTCCAGGCACAGG	0.637000														6			66		0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416246	57416246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:57416246G>A	uc002eli.3	+	2	563	c.496G>A	c.(496-498)Ggg>Agg	p.G166R		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	166	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGGTTCCTCAGGGACCAGGCT	0.672000														9			39		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058260	56058260	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:56058260G>A	uc010rje.2	-	0	279	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGCAGCCCATGAAGGAAATAT	0.403000														180			170		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141535834	141535834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:141535834G>A	uc011bnd.2	+	3	1688	c.1604G>A	c.(1603-1605)aGa>aAa	p.R535K		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	535					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GACCCCAACAGACCTACGGGT	0.463000														194			72		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422232	47422233	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:47422232_47422233TG>AT	uc010ekv.3	+	0	300_301	c.300_301TG>AT	c.(298-303)attgat>atATat	p.D101Y		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	101					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTGAATTTATTGATGATCAGAC	0.465000														119			90		0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2266817	2266817	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:2266817G>C	uc002fum.4	+	6	908	c.731G>C	c.(730-732)cGc>cCc	p.R244P	SGSM2_uc002fun.4_Missense_Mutation_p.R244P|SGSM2_uc010vqw.2_Missense_Mutation_p.R244P	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	244			R -> S (in dbSNP:rs17853888).			intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GCCTGTGCCCGCGAGTGTGTG	0.637000														45			14		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925439	70925439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:70925439G>A	uc021rvq.1	+	0	1223	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ADAM21_uc001xmd.3_Missense_Mutation_p.R408H	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	408	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATGCTAAAGCGCTGTGGGAAT	0.458000														90			25		0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	169053761	169053761	+	Missense_Mutation	SNP	C	T	T	rs148539759		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:169053761C>T	uc003qwr.2	+	10	1391	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	SMOC2_uc003qws.2_Missense_Mutation_p.R380C|SMOC2_uc011egu.2_Missense_Mutation_p.R57C	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	380	EF-hand 2.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GAGGTTCCTTCGCAAAAAATC	0.433000														22			36		0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902126	74902126	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:74902126C>T	uc002sna.1	+	8	1224	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	SEMA4F_uc021vjn.1_Silent_p.V370V|SEMA4F_uc010ffq.1_Silent_p.V338V|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.V216V	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	371	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCCTGTCGTGGACAATG	0.532000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		88			60		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961496	1961496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:1961496C>T	uc010gaj.3	-	2	480	c.238G>A	c.(238-240)Gag>Aag	p.E80K	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.E80K|PDYN_uc021vzt.1_Missense_Mutation_p.E80K|PDYN_uc021vzu.1_Missense_Mutation_p.E80K|PDYN_uc002wfv.3_Missense_Mutation_p.E80K	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	80					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAAGTCCTCCTTGTCATTG	0.572000														92			71		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34181823	34181823	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:34181823C>T	uc001mvl.2	-	11	2900	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	639							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCTTCCGGATCTCTGGGATGC	0.642000														63			42		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784789	68784789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:68784789G>A	uc003hdr.1	-	7	984	c.863C>T	c.(862-864)tCg>tTg	p.S288L	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.S285L	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	288	Peptidase S1.			S -> P (in Ref. 1; AAD41463).	cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.S288L(4)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TATGTCATCCGAAAAGGTGAC	0.443000														111			35		0	0	1	0	0
CCNB2	9133	broad.mit.edu	37	15	59406711	59406711	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:59406711C>T	uc002afz.3	+	3	520	c.336C>T	c.(334-336)gcC>gcT	p.A112A		NM_004701	NP_004692	O95067	CCNB2_HUMAN	Homo sapiens cyclin B2 (CCNB2), mRNA.	112					G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|mitosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TTTCTGATGCCTTGCTCTGCA	0.473000														62			37		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43623415	43623415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:43623415C>T	uc003bdt.2	-	9	1299	c.1172G>A	c.(1171-1173)gGg>gAg	p.G391E		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	391	EGF-like 9; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	p.P390Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GAGCCGCCTCCCCGGGGGACA	0.662000														12			32		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17424266	17424266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:17424266G>A	uc001mnc.3	-	28	3718	c.3592C>T	c.(3592-3594)Cca>Tca	p.P1198S		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1198	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GAGAGAAGTGGAAGCTGGGTG	0.602000														161			123		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47985697	47985697	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:47985697C>T	uc002zjo.2	+	35	4419	c.4236C>T	c.(4234-4236)gaC>gaT	p.D1412D	DIP2A_uc011afz.1_Silent_p.D1408D|DIP2A_uc002zjs.2_Silent_p.D92D|DIP2A_uc002zjt.2_Non-coding_Transcript	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1412					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTCATGCCGACCACTTCAGTG	0.587000														86			38		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695452	153695453	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:153695452_153695453CC>TT	uc004flm.3	+	17	3333_3334	c.3160_3161CC>TT	c.(3160-3162)ccc>TTc	p.P1054F		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1054	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCCAGGAGCCCCGGGTCCGT	0.673000														17			127		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	56032809	56032809	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:56032809G>A	uc002adg.3	-	1	216	c.168C>T	c.(166-168)gtC>gtT	p.V56V		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	56	Ig-like 1.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCTAAAACGACTGGGTCCT	0.408000														102			80		0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527375	16527375	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:16527375G>A	uc010cpi.2	-	5	917	c.825C>T	c.(823-825)ccC>ccT	p.P275P	ZNF624_uc021tre.1_Silent_p.P149P	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TACATTTGTAGGGTTTTTCCT	0.343000														67			23		0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108700206	108700206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:108700206C>T	uc001dvn.4	-	4	761	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	SLC25A24_uc001dvm.3_Missense_Mutation_p.E164K	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	183					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TCCGTGAATTCATCTGGAATA	0.438000														53			85		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57589163	57589163	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:57589163G>A	uc001snd.3	+	51	8884	c.8418G>A	c.(8416-8418)gaG>gaA	p.E2806E		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2806	LDL-receptor class A 17.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGCAGACGAGAGCATCGCAG	0.652000														44			214		0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726547	25726547	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:25726547G>C	uc003nfc.3	-	0	244	c.209C>G	c.(208-210)gCg>gGg	p.A70G	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	70					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A70E(2)|p.A70A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATCGCGAGACGCATTGCCTGC	0.517000														67			49		0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20003309	20003309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:20003309C>T	uc011kyq.2	-	16	2014	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	SLC18A1_uc003wzm.3_Missense_Mutation_p.E515K|SLC18A1_uc011kyr.2_Missense_Mutation_p.G470E|SLC18A1_uc003wzn.3_Missense_Mutation_p.E483K|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	515					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		TCACTGTCCTCCCCCAGAGGA	0.547000														72			24		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39550839	39550839	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:39550839A>T	uc001uwx.3	-	1	286	c.148T>A	c.(148-150)Tgc>Agc	p.C50S	STOML3_uc010tez.2_Missense_Mutation_p.C41S	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	50						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ACCTTCAAGCACATCCATATG	0.438000														28			17		0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43940861	43940861	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:43940861G>A	uc002xns.3	+	6	517	c.445_splice	c.e6-1	p.E149_splice	RBPJL_uc002xnt.3_Splice_Site_p.E149_splice	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	149					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGCCCCCTAGGAATTCGGCTG	0.647000											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		117			83		0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9784410	9784410	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:9784410T>G	uc001aqe.4	+	20	3075	c.2867T>G	c.(2866-2868)tTc>tGc	p.F956C	PIK3CD_uc001aqb.4_Missense_Mutation_p.F932C|PIK3CD_uc010oaf.2_Missense_Mutation_p.F931C|PIK3CD_uc021ogb.1_Missense_Mutation_p.F716C	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	932	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGTCCCATTCATCCTCACC	0.517000														225			105		0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1979046	1979046	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:1979046G>A	uc002lul.4	+	5	1158	c.636G>A	c.(634-636)ctG>ctA	p.L212L	CSNK1G2_uc010dsu.3_Silent_p.L164L	NM_001319	NP_001310	P78368	KC1G2_HUMAN	Homo sapiens casein kinase 1, gamma 2 (CSNK1G2), mRNA.	212	Protein kinase.				Wnt receptor signaling pathway|sphingolipid metabolic process	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGAGCCTGACGGGCACGG	0.687000														83			28		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162801	141162801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:141162801C>T	uc010hup.3	+	1	1621	c.1574C>T	c.(1573-1575)aCt>aTt	p.T525I	ZBTB38_uc003etw.3_Missense_Mutation_p.T524I|ZBTB38_uc010hun.3_Missense_Mutation_p.T521I|ZBTB38_uc010huo.3_Missense_Mutation_p.T524I|ZBTB38_uc003ety.3_Missense_Mutation_p.T524I|ZBTB38_uc021xes.1_Missense_Mutation_p.T524I	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	524					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGTCTTGAAACTTTCATGACC	0.383000														38			34		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579545	7579545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:7579545C>T	uc002gim.2	-	3	336	c.142G>A	c.(142-144)Gac>Aac	p.D48N	TP53_uc002gig.1_Missense_Mutation_p.D48N|TP53_uc002gih.3_Missense_Mutation_p.D48N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.D48N|TP53_uc010cnh.1_Missense_Mutation_p.D48N|TP53_uc002gij.2_Missense_Mutation_p.D48N|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.D9N|TP53_uc010cnk.1_Missense_Mutation_p.D63N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	48	Interaction with HRMT1L2.		D -> G (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P47fs*76(3)|p.D48fs*55(2)|p.P47P(2)|p.P47fs*4(2)|p.P47L(2)|p.S46_D49delSPDD(2)|p.D48D(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCAATATCGTCCGGGGACAGC	0.592000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				236			347		0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196199271	196199272	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:196199271_196199272GG>AA	uc003fwq.3	-	5	1729_1730	c.1134_1135CC>TT	c.(1132-1137)tgccta>tgTTta	p.378_379CL>CL	RNF168_uc010iah.3_Silent_p.211_212CL>CL	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	378					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGATCAGTAGGCACGACTCTT	0.446000														109			45		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82838072	82838072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:82838072G>A	uc003kii.3	+	7	9606	c.9250G>A	c.(9250-9252)Gca>Aca	p.A3084T	VCAN_uc003kij.3_Missense_Mutation_p.A2097T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.A1748T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3084	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)		GGAAGGCACGGCAATCTATTT	0.373000														38			25		0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11034639	11034639	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:11034639C>A	uc002mqc.3	-	6	648	c.521G>T	c.(520-522)tGg>tTg	p.W174L	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Missense_Mutation_p.W174L	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	174						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GGGCACCAGCCACGCATAGCA	0.672000														28			18		4.35082e-09	4.38793e-09	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130927093	130927093	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:130927093G>A	uc001uil.2	-	7	969	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RIMBP2_uc001uim.3_Silent_p.F159F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	251						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AATGGTTGATGAAGTTCTGAT	0.607000														134			58		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38937408	38937408	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:38937408G>A	uc002oit.3	+	9	930	c.800_splice	c.e9+1	p.S267_splice	RYR1_uc002oiu.3_Splice_Site_p.S267_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	267					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAGAATCAGGTAGGGCGGG	0.577000														100			27		0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65366005	65366005	+	Silent	SNP	A	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:65366005A>T	uc001oew.3	-	9	2794	c.2301T>A	c.(2299-2301)ccT>ccA	p.P767P	KCNK7_uc001oeq.3_5'Flank|KCNK7_uc001oer.3_5'Flank|KCNK7_uc001oes.3_5'Flank|KCNK7_uc001oeu.3_5'Flank|MAP3K11_uc001oev.3_Silent_p.P183P|MAP3K11_uc010rol.2_Silent_p.P510P|MAP3K11_uc001oex.1_Silent_p.P256P	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	767	Pro-rich.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCGAGGGCCGAGGTCGGCTGA	0.682000														29			22		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75548578	75548578	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:75548578T>C	uc001jvj.3	+	1	614	c.359T>C	c.(358-360)aTt>aCt	p.I120T	KIAA0913_uc001jve.3_Missense_Mutation_p.I120T|KIAA0913_uc009xrl.3_Missense_Mutation_p.I120T|KIAA0913_uc001jvf.3_Missense_Mutation_p.I120T|KIAA0913_uc001jvh.3_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	120							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					GAAGAGGACATTCGGTGAGGC	0.507000														31			12		0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59564525	59564525	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:59564525A>C	uc002aga.3	-	1	499	c.127T>G	c.(127-129)Tac>Gac	p.Y43D		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	43	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TCATCCATGTATCTCTTCTTC	0.438000														95			36		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380889	108380889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:108380889G>A	uc001pkk.3	-	5	5456	c.5345C>T	c.(5344-5346)tCt>tTt	p.S1782F	EXPH5_uc010rvz.2_Missense_Mutation_p.S1626F|EXPH5_uc010rvy.2_Missense_Mutation_p.S1594F	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1782					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCACTCCAGAGATGAAGCACT	0.478000														67			62		0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64900542	64900543	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:64900542_64900543GG>AA	uc001odb.3	-	3	322_323	c.228_229CC>TT	c.(226-231)cacctt>caTTtt	p.L77F	SYVN1_uc001odc.3_Missense_Mutation_p.L77F|SYVN1_uc009yqc.3_Missense_Mutation_p.L77F	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	77					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGTTCCAGAAGGTGCTGGGGGC	0.550000														71			48		0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122968515	122968515	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:122968515C>T	uc001pyt.3	-	1	533	c.174G>A	c.(172-174)ggG>ggA	p.G58G		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	58	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CTTTTTGGTTCCCTTCATTAT	0.493000														79			59		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596191	179596191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179596191C>T	uc021vsy.1	-	55	13795	c.13570G>A	c.(13570-13572)Gat>Aat	p.D4524N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1185N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5451	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4523K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGATTTCATCGCTGTCTTTT	0.483000														21			16		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504028	95504028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:95504028G>A	uc003ygo.2	-	21	4989	c.4918C>T	c.(4918-4920)Cgt>Tgt	p.R1640C	KIAA1429_uc010maz.2_Intron	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1640					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTCTCTGACGAAAAATATCA	0.453000														71			17		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42169418	42169418	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:42169418C>A	uc002xkn.1	+	13	1495	c.1364C>A	c.(1363-1365)aCa>aAa	p.T455K	L3MBTL1_uc010zwh.2_Missense_Mutation_p.T764K|L3MBTL1_uc002xkm.3_Missense_Mutation_p.T696K|L3MBTL1_uc010ggl.3_Missense_Mutation_p.T701K|L3MBTL1_uc002xkl.3_Missense_Mutation_p.T696K|L3MBTL1_uc002xko.3_Missense_Mutation_p.T348K|L3MBTL1_uc002xkp.3_Missense_Mutation_p.T84K|SGK2_uc002xkq.1_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	696					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CAGACCCTGACAGGTTGTGAG	0.552000														41			31		3.78316e-11	3.82295e-11	1	1	0
DAK	26007	broad.mit.edu	37	11	61110896	61110896	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:61110896C>T	uc001nre.3	+	10	1205	c.948C>T	c.(946-948)ctC>ctT	p.L316L	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.L246L	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	316	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CTCTCACCCTCCTGCTGGTGG	0.587000														159			125		0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270527	53270527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:53270527G>A	uc002qab.4	-	2	768	c.482C>T	c.(481-483)tCt>tTt	p.S161F	ZNF600_uc021uyz.1_Missense_Mutation_p.S161F	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACATTGGAAAGATTTTTCTCT	0.368000														88			64		0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49082620	49082620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:49082620G>A	uc002itc.3	-	11	1638	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SPAG9_uc002itd.3_Missense_Mutation_p.R463W|SPAG9_uc002itb.3_Missense_Mutation_p.R463W|SPAG9_uc002itf.3_Missense_Mutation_p.R298W|SPAG9_uc002ita.3_Missense_Mutation_p.R320W|SPAG9_uc002ite.3_Missense_Mutation_p.R307W	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	477					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.R463W(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTTCTGCCCGAGCTCTAGTG	0.343000														25			22		0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48542572	48542572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:48542572C>T	uc002phu.2	-	3	373	c.241G>A	c.(241-243)Ggt>Agt	p.G81S		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	81	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		ACACGGCCACCCACTGAGGAA	0.537000														80			57		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70222682	70222683	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:70222682_70222683GG>AA	uc001opo.3	+	24	3575_3576	c.3360_3361GG>AA	c.(3358-3363)atgggg>atAAgg	p.1120_1121MG>IR	PPFIA1_uc001opn.2_Missense_Mutation_p.1120_1121MG>IR|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_Missense_Mutation_p.259_260MG>IR|PPFIA1_uc001ops.3_Missense_Mutation_p.159_160MG>IR|AK125463_uc001opt.1_Intron	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	1120	SAM 3.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTTTGGTCATGGGGACTGATAG	0.332000														121			65		0	0	1	0	0
PPCDC	60490	broad.mit.edu	37	15	75341001	75341001	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:75341001C>T	uc002azo.3	+	4	581	c.468C>T	c.(466-468)ctC>ctT	p.L156L		NM_021823	NP_068595	Q96CD2	COAC_HUMAN	Homo sapiens phosphopantothenoylcysteine decarboxylase (PPCDC), mRNA.	156					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						TAGACCAGCTCAAGGCCTTTG	0.612000														121			105		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527251	23527251	+	Missense_Mutation	SNP	C	G	G	rs111488757		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:23527251C>G	uc003jgo.3	+	10	2236	c.2054C>G	c.(2053-2055)aCa>aGa	p.T685R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	685					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCAGAGGACACACACAGGG	0.602000										HNSCC(3;0.000094)				108			4		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6031493	6031493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:6031493C>T	uc010idb.1	-	19	2881	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E614K|JAKMIP1_uc010idd.1_Nonsense_Mutation_p.W536*	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	570					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTTTGTCCTCCAGTTCTCGG	0.418000														6			6		0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16275677	16275677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:16275677C>T	uc002nds.3	-	4	394	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CIB3_uc010eae.3_Missense_Mutation_p.V71M|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Missense_Mutation_p.V83M	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	132	EF-hand 2.						calcium ion binding	p.T131M(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						AGTTTGGTCACCGTCTGCTCC	0.602000														142			90		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112155002	112155002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:112155002G>A	uc003kpz.4	+	10	1466	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	APC_uc011cvt.2_Missense_Mutation_p.E407K|APC_uc003kpy.4_Missense_Mutation_p.E425K|APC_uc010jbz.3_Missense_Mutation_p.E142K|APC_uc010jca.3_5'Flank	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	425	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAGTGGCAGGAAGCTCATGA	0.443000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				56			30		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207697024	207697024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:207697024C>T	uc001hfy.3	+	4	696	c.556C>T	c.(556-558)Cac>Tac	p.H186Y	CR1_uc009xcl.1_Missense_Mutation_p.H186Y|CR1_uc001hfx.3_Missense_Mutation_p.H186Y|CR1_uc021pij.1_Missense_Mutation_p.H186Y|CR1_uc009xcj.1_Missense_Mutation_p.H186Y|CR1_uc009xck.1_Missense_Mutation_p.H186Y	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	186	Sushi 3.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGAGAATTTTCACTATGGATC	0.483000														30			11		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95524312	95524312	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:95524312G>A	uc003ygo.2	-	11	2828	c.2757C>T	c.(2755-2757)atC>atT	p.I919I	KIAA1429_uc003ygp.3_Silent_p.I919I|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	919					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCAAGTTATCGATATTCTTTA	0.388000														43			9		0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026359	27026359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:27026359G>A	uc003acz.4	+	5	534	c.499G>A	c.(499-501)Gat>Aat	p.D167N		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	167	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTGGAATGCGATCACCATTC	0.547000														33			21		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529366	57529366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:57529366G>A	uc011kdi.1	+	3	1311	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TACCACAAGAGAACTCATACT	0.403000														19			37		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	93962767	93962767	+	Silent	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:93962767T>C	uc001ybv.1	+	2	275	c.192T>C	c.(190-192)tgT>tgC	p.C64C	UNC79_uc001ybs.1_Silent_p.C64C|UNC79_uc001ybu.1_Intron	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	241						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGTATCATTGTCAATTACTGG	0.274000														33			23		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308423	205308423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:205308423G>A	uc001hcf.1	-	3	1224	c.656C>T	c.(655-657)aCc>aTc	p.T219I	KLHDC8A_uc010prg.1_Missense_Mutation_p.T106I|KLHDC8A_uc001hcg.1_Missense_Mutation_p.T219I	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	219										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTTGTCCAGGGTCACAAAGCT	0.567000														57			21		0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74525028	74525028	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:74525028G>A	uc002fcx.3	-	7	1370	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	GLG1_uc002fcw.4_Silent_p.I429I|GLG1_uc002fcy.4_Silent_p.I440I|GLG1_uc002fcz.4_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	440						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGCTTAGGATGATCTCAGGGC	0.512000														27			136		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20525458	20525458	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:20525458C>T	uc003gpr.1	+	12	1410	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	SLIT2_uc003gps.1_Silent_p.S402S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	402					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCTTCTCTCCCTATATGACA	0.398000														107			98		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47693322	47693322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:47693322G>A	uc002zir.1	-	6	2212	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	726					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCACGCGTGCGGTTCCACACG	0.507000														66			34		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51274960	51274960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:51274960C>T	uc011bds.2	+	20	2064	c.2041C>T	c.(2041-2043)Cac>Tac	p.H681Y		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	681						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAGTATTTTCACTTTCGACC	0.468000														24			21		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8242577	8242577	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:8242577G>A	uc003gkv.4	+	17	4007	c.3906G>A	c.(3904-3906)caG>caA	p.Q1302Q	SH3TC1_uc003gkw.4_Silent_p.Q1226Q|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	1302							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCTTCTACCAGAAGGCCAGGA	0.622000														76			82		0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43641989	43641989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:43641989G>A	uc003cmv.3	-	2	395	c.224C>T	c.(223-225)tCc>tTc	p.S75F	ANO10_uc011azs.2_Missense_Mutation_p.S75F|ANO10_uc003cmw.3_Intron|ANO10_uc010hil.3_Missense_Mutation_p.S75F|ANO10_uc011azt.2_Intron	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	75					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TCTAATCTTGGAGGCACCAAC	0.378000														221			4		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133767884	133767884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:133767884G>A	uc011ecs.2	+	3	516	c.200G>A	c.(199-201)gGg>gAg	p.G67E	EYA4_uc011ecq.2_Missense_Mutation_p.G67E|EYA4_uc011ecr.2_Missense_Mutation_p.G67E|EYA4_uc003qec.4_Missense_Mutation_p.G67E|EYA4_uc003qed.4_Missense_Mutation_p.G67E|EYA4_uc003qee.4_Missense_Mutation_p.G67E|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	67					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACTACAAATGGGACAGGAGGT	0.378000														32			30		0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74411278	74411278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:74411278G>A	uc001xpd.2	-	2	1073	c.685C>T	c.(685-687)Ctc>Ttc	p.L229F		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCTTGGTAGAGGGGCAGGTAG	0.617000														91			33		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24652236	24652236	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24652236G>A	uc001wmv.1	-	22	3388	c.2367C>T	c.(2365-2367)ccC>ccT	p.P789P	IPO4_uc001wmt.1_Silent_p.P267P|IPO4_uc001wmu.2_Silent_p.P451P|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.P653P|IPO4_uc001wmy.1_Silent_p.P653P|IPO4_uc001wmz.2_Silent_p.P789P	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	789					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GGCGCCCAGGGGGCTTCAGTG	0.677000														88			38		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616440	248616440	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:248616440C>T	uc001iek.1	+	0	342	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGAATTCTTCCTGCTGGGTC	0.542000														134			33		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682602	140682602	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140682602G>C	uc003ljf.3	-	0	1011	c.831C>G	c.(829-831)atC>atG	p.I277M		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	277					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CATTGGCAGGGATTGCTCGAA	0.443000														6			38		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128368934	128368934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:128368934G>A	uc003kuy.3	+	10	2215	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	SLC27A6_uc003kuz.3_Missense_Mutation_p.E607K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	607					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACTGACCAGGGAACTTTATGA	0.338000														3			13		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46805046	46805046	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:46805046G>A	uc003bhw.1	-	8	5073	c.5073C>T	c.(5071-5073)ccC>ccT	p.P1691P	CELSR1_uc011arc.1_Silent_p.P4P	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1691	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGAAGAGCTGGGGGTGAGGCA	0.652000														86			29		0	0	1	0	0
BUD31	8896	broad.mit.edu	37	7	99008806	99008806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:99008806G>A	uc011kiu.1	+	2	292	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	PDAP1_uc003uqe.3_5'Flank|BUD31_uc003uqf.3_Missense_Mutation_p.E31K|BUD31_uc011kiv.1_Missense_Mutation_p.E31K|BUD31_uc003uqg.4_Missense_Mutation_p.E31K	NM_003910	NP_003901	P41223	BUD31_HUMAN	Homo sapiens BUD31 homolog (S. cerevisiae) (BUD31), mRNA.	31					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AAAGATGAGAGAAGGTGAGTA	0.493000														24			30		0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414233	68414233	+	RNA	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:68414233G>A	uc004aex.3	+	0		c.788G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CACCCACCAGGGGTgctaatt	0.542000														6			3		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28543164	28543164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:28543164G>A	uc002hey.4	-	6	1452	c.908C>T	c.(907-909)cCt>cTt	p.P303L		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	303					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCAGGCTCCAGGGAGGGTGGC	0.522000														78			38		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628356	172628356	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:172628356C>T	uc001gis.3	+	0	172	c.15C>T	c.(13-15)ttC>ttT	p.F5F	FASLG_uc001git.3_Silent_p.F5F	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	5	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						AGCAGCCCTTCAATTACCCAT	0.582000														59			43		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551905	100551905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:100551905G>A	uc003uxl.1	+	0	1156	c.356G>A	c.(355-357)gGa>gAa	p.G119E	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTCACTAGGGGAAGTACGTCT	0.428000														555			74		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995503	1995503	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:1995503C>T	uc021qsx.1	-	7	1110	c.879G>A	c.(877-879)gtG>gtA	p.V293V	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	293	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCACCAAAATCACTATGTCCT	0.507000														54			48		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181922	81181922	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:81181922C>T	uc002fgh.1	-	28	4794	c.4794G>A	c.(4792-4794)ctG>ctA	p.L1598L	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1598					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGAGCTCTCCAGGCCAATCA	0.557000														12			71		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52539755	52539755	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:52539755G>A	uc003dej.3	+	14	1727	c.1653G>A	c.(1651-1653)gtG>gtA	p.V551V	STAB1_uc003dei.1_Silent_p.V551V	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	551	FAS1 2.				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)		ATGAGGCTGTGGACAGCTTGC	0.647000														106			69		0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557273	40557273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:40557273G>A	uc002hzo.3	-	1	828	c.605C>T	c.(604-606)tCg>tTg	p.S202L	PTRF_uc010wgi.2_Missense_Mutation_p.S184L	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	Homo sapiens polymerase I and transcript release factor (PTRF), mRNA.	202					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTCGTCCGACGAAAGCTCCAG	0.667000														189			170		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706317	96706317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:96706317G>A	uc010how.1	+	2	637	c.594G>A	c.(592-594)atG>atA	p.M198I	EPHA6_uc003drp.1_Missense_Mutation_p.M198I	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	103	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V198I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATGTGGAAATGAAATTCACAC	0.403000														45			19		0	0	1	0	0
PHF10	55274	broad.mit.edu	37	6	170110429	170110429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:170110429G>A	uc011egy.2	-	8	1095	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	PHF10_uc011egz.2_Missense_Mutation_p.S337F|PHF10_uc011eha.1_Missense_Mutation_p.S190F	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	339					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TCCCTGGAAAGAGTCCTCCTG	0.458000														38			38		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9000146	9000146	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9000146C>T	uc002mkp.3	-	55	40814	c.40610_splice	c.e55+1	p.R13537_splice	MUC16_uc010dwi.3_Splice_Site|MUC16_uc010dwj.3_Splice_Site_p.R354_splice|MUC16_uc021uog.1_Splice_Site	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13539	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGTTCTCACCTGAGCAAGG	0.577000														76			67		0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36987004	36987004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:36987004G>A	uc001wtu.3	-	2	781	c.685C>T	c.(685-687)Cac>Tac	p.H229Y	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.H199Y|NKX2-1_uc001wtv.3_Missense_Mutation_p.H199Y|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	199					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GGCGTCAGGTGGATCATGCTG	0.622000			A		NSCLC									13			25		0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92052877	92052877	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:92052877G>C	uc003yes.3	-	0	327	c.101C>G	c.(100-102)cCc>cGc	p.P34R		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	34						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CTTACCTCTGGGGCTGCTTTC	0.562000														126			25		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719193	42719193	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:42719193C>T	uc021xxv.1	+	9	1742	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	GHR_uc003jmt.3_Silent_p.F528F|GHR_uc003jmu.3_Silent_p.F528F|GHR_uc003jmv.2_Silent_p.F528F|GHR_uc021xxw.1_Silent_p.F528F|GHR_uc021xxx.1_Silent_p.F528F|GHR_uc021xxy.1_Silent_p.F528F|GHR_uc021xxz.1_Silent_p.F528F|GHR_uc021xya.1_Silent_p.F528F|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.F341F|GHR_uc021xyd.1_Silent_p.F506F	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	528					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGAAAACTTCCTTATGGACA	0.498000														45			29		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980951	75980951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:75980951G>A	uc002baw.3	-	2	2548	c.2455C>T	c.(2455-2457)Cca>Tca	p.P819S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	819	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGGAAGGTTGGGGGGCTTGGG	0.612000														124			78		0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206681268	206681268	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:206681268G>A	uc001hed.3	+	0	390	c.333G>A	c.(331-333)caG>caA	p.Q111Q	RASSF5_uc001hec.1_Silent_p.Q111Q|RASSF5_uc001hee.3_Silent_p.Q111Q	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	111					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AGCAGCCGCAGGATCCCAGAG	0.746000														5			4		0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031532	38031532	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:38031532T>A	uc002hte.3	+	6	887	c.734T>A	c.(733-735)tTt>tAt	p.F245Y	ZPBP2_uc002htf.3_Missense_Mutation_p.F223Y	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	245					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAAGACTTTTTTCGGAGCCAA	0.373000														26			29		0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128819638	128819638	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:128819638T>C	uc003ifo.3	+	15	3129	c.2855T>C	c.(2854-2856)tTa>tCa	p.L952S	PLK4_uc011cgs.2_Missense_Mutation_p.L920S|PLK4_uc011cgt.2_Missense_Mutation_p.L911S	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	952	POLO box.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAACAGAAATTACAGTGTCTG	0.294000														130			3		0	0	1	0	0
BC043529	0	broad.mit.edu	37	17	20861666	20861666	+	RNA	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:20861666G>A	uc002gyk.1	+	4		c.750G>A								Homo sapiens hypothetical protein LOC339260, mRNA (cDNA clone IMAGE:5168338), partial cds.																		ATCCCCCAAAGTGGGATACCA	0.448000														7			6		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377887	113377887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:113377887G>A	uc003eam.3	-	6	3053	c.2642C>T	c.(2641-2643)tCg>tTg	p.S881L	KIAA2018_uc003eal.3_Missense_Mutation_p.S825L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	881	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTTAGATTTCGATACAGACTC	0.428000														99			38		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266729	1266729	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:1266729C>T	uc001lta.3	+	30	8678	c.8619C>T	c.(8617-8619)ccC>ccT	p.P2873P		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2873	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCTGTGAGCCCCAGTGTGCCT	0.677000														126			97		0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73406971	73406971	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:73406971C>T	uc001xng.3	+	3	457	c.237C>T	c.(235-237)ttC>ttT	p.F79F	DCAF4_uc010ttr.2_Silent_p.F57F|DCAF4_uc001xnj.3_Silent_p.F79F|DCAF4_uc001xnh.3_5'UTR|DCAF4_uc010tts.2_Silent_p.F79F|DCAF4_uc010ttt.2_5'UTR|DCAF4_uc001xni.3_Silent_p.F79F|DCAF4_uc001xnk.3_Silent_p.F79F	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	79						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AACGCTACTTCCGCTTGCTCC	0.483000														71			101		0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	94612	94612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:94612C>T	uc001ifi.2	-	2	220	c.220G>A	c.(220-222)Gac>Aac	p.D74N		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	74					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CGCACAGAGTCCATGGTGCCC	0.697000														26			42		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077809	9077809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:9077809C>T	uc002mkp.3	-	2	9841	c.9637G>A	c.(9637-9639)Gaa>Aaa	p.E3213K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3214	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCTGGGTTCCTTGGAGCTC	0.478000														118			104		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61559941	61559941	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:61559941G>A	uc002jau.2	+	7	1267	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ACE_uc010wpi.2_Silent_p.G411G|ACE_uc010ddu.2_Silent_p.G228G|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	411	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGCGTCGGGGGGCCAACCCCG	0.607000														148			127		0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16111229	16111229	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:16111229C>T	uc001rde.3	+	2	369	c.237C>T	c.(235-237)atC>atT	p.I79I	DERA_uc010shx.1_5'UTR	NM_015954	NP_057038	Q9Y315	DEOC_HUMAN	Homo sapiens deoxyribose-phosphate aldolase (putative) (DERA), mRNA.	79					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding	p.I79V(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				AATACCCAATCCGGGAAGATC	0.358000														7			11		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768340	57768340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:57768340G>A	uc002yan.3	+	0	2266	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	756						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGAGGCTGGAACTGGGGTG	0.642000														27			8		0	0	1	0	0
GOLGA6L2	283685	broad.mit.edu	37	15	23689122	23689122	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:23689122C>T	uc021sfy.1	-	4	455	c.357G>A	c.(355-357)ggG>ggA	p.G119G	GOLGA6L2_uc010ayh.2_Non-coding_Transcript					RecName: Full=Golgin subfamily A member 6-like protein 2;											breast(1)|endometrium(7)	8						TGCCCAGGTTCCCATCTTCAA	0.512000														5			6		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053555	142053555	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:142053555G>A	uc003iio.1	-	0	1062	c.408C>T	c.(406-408)ttC>ttT	p.F136F	RNF150_uc010iok.1_Silent_p.F136F|RNF150_uc003iip.1_Silent_p.F136F	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	136	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CGTTCTGCAGGAACGCGTTCC	0.642000														12			12		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810973	123810973	+	Missense_Mutation	SNP	C	T	T	rs138187932		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:123810973C>T	uc001pzk.1	+	0	650	c.650C>T	c.(649-651)tCg>tTg	p.S217L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTTCTGGGATCGTACACAGCA	0.517000														184			121		0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11606375	11606375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:11606375G>A	uc010hdx.1	-	2	797	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	VGLL4_uc003bwf.2_Missense_Mutation_p.P125S|VGLL4_uc003bwg.2_Missense_Mutation_p.P130S|VGLL4_uc010hdv.1_Missense_Mutation_p.P41S|VGLL4_uc010hdw.1_Missense_Mutation_p.P45S|VGLL4_uc011aun.1_Missense_Mutation_p.P66S	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CCAAGGCTGGGGAGGGAGGTG	0.721000														47			38		0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	679783	679783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:679783G>A	uc001lqq.1	-	7	1724	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.S255L	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	344					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGTGCCCCCGAGGTCGTGAT	0.652000														49			45		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285489	48285489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:48285489C>T	uc010rht.2	+	0	77	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S26Y(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AGGGTCATTTCTGTGATGTTT	0.463000														37			32		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78415601	78415601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:78415601C>T	uc001syp.3	+	8	2155	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L	NAV3_uc001syo.3_Missense_Mutation_p.S661L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	661						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGGACTTATCATATAGTAAG	0.423000										HNSCC(70;0.22)				12			40		0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172582223	172582223	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:172582223G>A	uc002uha.1	+	8	772	c.607_splice	c.e8+1	p.A203_splice	DYNC1I2_uc002uhb.1_Splice_Site_p.A177_splice|DYNC1I2_uc010zds.1_Splice_Site_p.A195_splice|DYNC1I2_uc002uhc.3_Splice_Site_p.A177_splice|DYNC1I2_uc002uhd.1_Splice_Site_p.A197_splice|DYNC1I2_uc002uhe.1_Splice_Site_p.A203_splice|DYNC1I2_uc002uhf.1_Splice_Site_p.A177_splice|DYNC1I2_uc010zdt.1_Splice_Site_p.A195_splice|DYNC1I2_uc002uhg.1_Splice_Site_p.A118_splice|DYNC1I2_uc010zdu.1_5'Flank	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	203					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	p.A203S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TGATAGTAAAGGTATCTTAAG	0.294000														9			3		0	0	1	0	0
GOLGA6L10	647042	broad.mit.edu	37	15	82637079	82637079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:82637079C>T	uc021ssn.1	-	5	1107	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q		NM_001164465	NP_001157937	A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	336										endometrium(1)|kidney(4)	5						ctccagcTCCCGCAGAGTCTC	0.667000														5			5		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112567	64112567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:64112567G>A	uc001nzy.3	+	13	2603	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	CCDC88B_uc009ypo.2_Missense_Mutation_p.E849K|CCDC88B_uc001nzz.1_Missense_Mutation_p.E501K	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	852					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGGAGAGCGAGGGCCGCCA	0.726000														8			5		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557226	157557226	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:157557226G>A	uc001fqw.3	-	4	823	c.687C>T	c.(685-687)ttC>ttT	p.F229F	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	229	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CATCTCTGAAGAAGTTGAAGT	0.527000														134			159		0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183498584	183498584	+	Silent	SNP	T	C	C			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:183498584T>C	uc001gqg.3	+	7	1009	c.759T>C	c.(757-759)ttT>ttC	p.F253F	SMG7_uc010pob.2_Silent_p.F282F|SMG7_uc021pga.1_Silent_p.F211F|SMG7_uc001gqf.3_Silent_p.F253F|SMG7_uc001gqh.3_Silent_p.F253F|SMG7_uc010poc.2_Silent_p.F211F	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	253					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCAAGGCCTTTATTAAATTCC	0.388000														19			47		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835468	247835468	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247835468C>T	uc001idi.1	-	0	876	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCTGCATCTCCCTATTCTGGA	0.438000														70			30		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746235	140746235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:140746235C>T	uc003lju.2	+	0	2338	c.2338C>T	c.(2338-2340)Ctt>Ttt	p.L780F	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_uc011das.2_Missense_Mutation_p.L780F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	790					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			AGACACGCTCCTTAGTGAAGA	0.517000														35			189		0	0	1	0	0
CHKA	1119	broad.mit.edu	37	11	67829480	67829480	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:67829480G>A	uc001onj.3	-	10	1468	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	CHKA_uc001onk.3_Silent_p.F400F|AX747648_uc001onl.1_5'Flank	NM_001277	NP_001268	P35790	CHKA_HUMAN	Homo sapiens choline kinase alpha (CHKA), transcript variant 1, mRNA.	418					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	GTCCCCAGAGGAAATGAGATG	0.368000														11			9		0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135300379	135300380	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:135300379_135300380TC>GT	uc003qez.2	-	13	1831_1832	c.1624_1625GA>AC	c.(1624-1626)gac>ACc	p.D542T	HBS1L_uc003qey.2_Missense_Mutation_p.D378T|HBS1L_uc011ecy.1_Missense_Mutation_p.D266T|HBS1L_uc011ecz.1_Missense_Mutation_p.D378T|HBS1L_uc011eda.1_Missense_Mutation_p.D500T	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	542					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TGCCGCCCAGTCGACAGGTTCA	0.431000														21			26		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67699601	67699601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:67699601C>T	uc001stn.2	+	9	2590	c.2153C>T	c.(2152-2154)aCt>aTt	p.T718I	CAND1_uc001sto.2_Missense_Mutation_p.T228I	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	718					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTCTTACCACTTTGGCAAAA	0.433000														436			57		0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654981	161654981	+	RNA	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:161654981C>T	uc001gbc.3	-	0		c.62G>A								Homo sapiens ribosomal protein L31 pseudogene 11 (RPL31P11), non-coding RNA.																		TTCTTGCCACCCTTCTTTGCG	0.502000														11			8		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320463	38320463	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:38320463G>A	uc010abx.3	-	2	743	c.508C>T	c.(508-510)Cga>Tga	p.R170*	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Nonsense_Mutation_p.R170*|TRPC4_uc001uws.3_Nonsense_Mutation_p.R170*|TRPC4_uc010tey.2_Nonsense_Mutation_p.R170*|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Nonsense_Mutation_p.R170*	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	170	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCGTGGGGTCGAGGCACTGAG	0.473000														70			56		0	0	1	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864560	102864560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chrX:102864560G>A	uc022cbu.1	+	0	568	c.568G>A	c.(568-570)Ggc>Agc	p.G190S	TCEAL3_uc004ekq.3_Missense_Mutation_p.G190S|TCEAL3_uc004ekr.3_Missense_Mutation_p.G190S	NM_032926	NP_116315	Q969E4	TCAL3_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 2, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TGGAGGTAGGGGCCAGAGGGG	0.517000														185			9		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090459	238090459	+	RNA	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:238090459G>A	uc010pyc.2	+	11		c.1965G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		AGGCCTGCCCGAACCCCAAGG	0.577000														27			29		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719292	42719292	+	Silent	SNP	C	T	T	rs139272745	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:42719292C>T	uc021xxv.1	+	9	1841	c.1704C>T	c.(1702-1704)aaC>aaT	p.N568N	GHR_uc003jmt.3_Silent_p.N561N|GHR_uc003jmu.3_Silent_p.N561N|GHR_uc003jmv.2_Silent_p.N561N|GHR_uc021xxw.1_Silent_p.N561N|GHR_uc021xxx.1_Silent_p.N561N|GHR_uc021xxy.1_Silent_p.N561N|GHR_uc021xxz.1_Silent_p.N561N|GHR_uc021xya.1_Silent_p.N561N|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.N374N|GHR_uc021xyd.1_Silent_p.N539N	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	561					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.I567M(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAAGCTTAAACCAAGAGGACA	0.498000														32			12		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22154060	22154060	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:22154060A>G	uc010vbq.2	+	24	2662	c.2566A>G	c.(2566-2568)Aag>Gag	p.K856E	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_5'Flank	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	856						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTTACCCAGAAAGGATACAGT	0.448000														2			7		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976887	119976887	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:119976887G>A	uc004bjt.2	-	2	866	c.765C>T	c.(763-765)atC>atT	p.I255I	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	255						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCACAGATGGGATGTAGTGGA	0.622000														9			56		0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4024062	4024062	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:4024062G>A	uc002lzg.3	+	2	493	c.483G>A	c.(481-483)gaG>gaA	p.E161E		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	161	PINIT.				Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTCAGGAGAGCCCGTGCA	0.637000														150			37		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49227692	49227692	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:49227692G>A	uc002pki.3	-	9	2643	c.2446C>T	c.(2446-2448)Cta>Tta	p.L816L	RASIP1_uc002pkh.3_Silent_p.L77L	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	816	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GCTCCCTGTAGCCAGTCCAAG	0.567000														154			93		0	0	1	0	0
UBE2Z	65264	broad.mit.edu	37	17	46990249	46990249	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:46990249C>T	uc002ioi.3	+	2	579	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_023079	NP_075567	Q9H832	UBE2Z_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Z (UBE2Z), mRNA.	148					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										GGGGTTTCTTCCTGTTCGTGT	0.488000														246			153		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33673082	33673082	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:33673082C>T	uc003and.4	-	14	2616	c.2037G>A	c.(2035-2037)tgG>tgA	p.W679*	LARGE_uc011amd.2_Nonsense_Mutation_p.W478*|LARGE_uc003ane.4_Nonsense_Mutation_p.W679*|LARGE_uc010gwp.3_Nonsense_Mutation_p.W627*|LARGE_uc011ame.2_Nonsense_Mutation_p.W611*|LARGE_uc011amf.2_Nonsense_Mutation_p.W630*	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	679					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCACTTTGTTCCAGCCAAAGC	0.557000														106			37		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268743	44268743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr18:44268743G>A	uc010xcy.1	-	4	1127	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc002lcj.1_Missense_Mutation_p.P151S|ST8SIA5_uc010xcz.1_Missense_Mutation_p.P120S	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	151					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGCACCTTGGGAAACATGCGG	0.592000														139			58		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770925	145770925	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:145770925G>A	uc003zds.1	-	6	2784	c.2229C>T	c.(2227-2229)gcC>gcT	p.A743A	ARHGAP39_uc011llk.1_Silent_p.A743A|ARHGAP39_uc003zdt.1_Silent_p.A743A	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	743	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AGAGCTCGCAGGCCTCCTTCT	0.637000														60			24		0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877768	76877768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:76877768G>A	uc001dhh.2	+	2	452	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.E97K|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.E32K	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	97					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGTGGGAAATGAGATAGATCG	0.473000														65			21		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066219	23066219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:23066219G>A	uc002wsv.3	-	0	759	c.611C>T	c.(610-612)cCc>cTc	p.P204L		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	204					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTCTGGAAGGGGGTGGTGTA	0.592000														74			56		0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63188832	63188832	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:63188832G>A	uc001jlo.2	-	3	826	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	TMEM26_uc001jlq.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	153						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGCATTAACAGGAATGTCTGA	0.418000														44			15		0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122273434	122273434	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:122273434C>T	uc001lev.1	+	2	529	c.177C>T	c.(175-177)ttC>ttT	p.F59F	PPAPDC1A_uc010qtd.2_Silent_p.F59F|PPAPDC1A_uc009xzl.1_Silent_p.F59F|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_5'UTR	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	59					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CAATTTCTTTCCTCACACCCC	0.398000														63			58		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90281315	90281316	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:90281315_90281316CC>TA	uc002boj.3	+	15	1910_1911	c.1809_1810CC>TA	c.(1807-1812)atccaa>atTAaa	p.Q604K	WDR93_uc010bnr.3_Missense_Mutation_p.Q576K|WDR93_uc010upz.2_Missense_Mutation_p.Q321K	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	604					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGCTGGAATCCAATATTCTGT	0.426000														315			180		0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75147556	75147556	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:75147556C>T	uc002fdm.3	-	7	1084	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E	LDHD_uc002fdn.3_Silent_p.E321E	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	344							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GCTGGACTATCTCCTCTGCAG	0.672000														13			59		0	0	1	0	0
ADAT1	23536	broad.mit.edu	37	16	75651152	75651152	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:75651152G>A	uc002feo.2	-	5	481	c.312C>T	c.(310-312)ctC>ctT	p.L104L	ADAT1_uc002fep.2_5'UTR	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.	104	A to I editase.				tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CTGCCAACTGGAGTTGGTGGA	0.458000														17			113		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87370828	87370828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:87370828G>A	uc003ujb.3	+	6	1024	c.613G>A	c.(613-615)Gga>Aga	p.G205R	RUNDC3B_uc011khd.1_Missense_Mutation_p.G188R|RUNDC3B_uc011khe.2_Missense_Mutation_p.G188R|RUNDC3B_uc003ujc.3_Missense_Mutation_p.G188R|RUNDC3B_uc003ujd.3_Missense_Mutation_p.G110R	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	205	RUN.							p.K204T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTGCCTAAAGGGAGAGGGGCT	0.299000														28			9		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941932	144941932	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:144941932G>A	uc003zaa.1	-	0	5503	c.5490C>T	c.(5488-5490)atC>atT	p.I1830I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1830						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)			TCGTGGTGATGATTTCCAGCA	0.552000														116			176		0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880137	101880137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:101880137G>A	uc001tid.3	+	5	494	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	SPIC_uc010svp.2_Missense_Mutation_p.R112Q|SPIC_uc009zua.3_5'UTR|SPIC_uc021rcq.1_5'UTR	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	112						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAGAAGCTCCGACTGTTTGAA	0.428000														18			78		0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86537023	86537023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:86537023G>A	uc011kha.2	-	17	2706	c.2521C>T	c.(2521-2523)Cct>Tct	p.P841S	KIAA1324L_uc003uie.3_Missense_Mutation_p.P674S|KIAA1324L_uc011kgz.2_Missense_Mutation_p.P727S|KIAA1324L_uc003uif.2_Missense_Mutation_p.P593S	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	841						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GATTTAGTAGGATTACACCTC	0.363000														53			22		0	0	1	0	0
LOC643387	643387	broad.mit.edu	37	2	239140630	239140630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:239140630G>A	uc010znu.2	+	0	304	c.109G>A	c.(109-111)Ggg>Agg	p.G37R	LOC151174_uc002vxy.2_5'Flank|LOC151174_uc002vxx.3_5'Flank					Homo sapiens TAR DNA binding protein pseudogene (LOC643387), non-coding RNA.																		CCAGTTTCCAGGGGCGTGTGG	0.542000														29			17		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887166	25887166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:25887166G>A	uc001isj.3	+	10	2671	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	GPR158_uc001isk.3_Missense_Mutation_p.E246K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	871						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGAGTCCACGGAGTCGGTGCC	0.493000														28			33		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694932	247694932	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:247694932C>T	uc021pmb.1	-	0	882	c.882G>A	c.(880-882)agG>agA	p.R294R	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.R294R	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCTCCGTGTTCCTCAGGGTGT	0.547000														55			35		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	37903866	37903866	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:37903866C>T	uc003gtb.3	+	1	508	c.150C>T	c.(148-150)ctC>ctT	p.L50L	TBC1D1_uc011byd.2_Silent_p.L50L|TBC1D1_uc010ifd.3_Silent_p.L50L	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	50						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCGAAGACTCAGCAGGCAGT	0.582000														102			67		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138450896	138450896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:138450896G>A	uc003ihe.4	-	0	2734	c.2347C>T	c.(2347-2349)Cct>Tct	p.P783S	PCDH18_uc003ihf.4_Missense_Mutation_p.P776S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.P563S|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	783					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTAAGGTAGGAGATGAAGAT	0.507000														43			9		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431437	110431437	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:110431437C>T	uc003yne.3	+	21	2576	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	824					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACAGTCCTTCTATGTGGATG	0.358000										HNSCC(38;0.096)				17			4		0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126147010	126147010	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:126147010C>T	uc001qdi.3	+	9	1313	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	FOXRED1_uc010sbn.2_Silent_p.F212F|FOXRED1_uc010sbq.2_Silent_p.F249F|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_Silent_p.F195F|FOXRED1_uc010sbr.2_Silent_p.F368F|FOXRED1_uc001qdk.3_Silent_p.F171F	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	382						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		ACCATGATTTCTTCCAGGACA	0.542000														109			100		0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42991193	42991193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:42991193G>A	uc002rss.3	-	0	209	c.127C>T	c.(127-129)Cat>Tat	p.H43Y		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	43					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CTCAGGTTATGAAGTTCCATG	0.572000														76			58		0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43343978	43343978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:43343978G>A	uc002iiw.1	-	14	2610	c.2501C>T	c.(2500-2502)gCc>gTc	p.A834V	LOC100133991_uc010dah.3_Intron|LOC100133991_uc002iit.4_Intron|LOC100133991_uc010dai.3_Intron|MAP3K14_uc002iiu.1_Missense_Mutation_p.A365V|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.A419V	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	835					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCGAGCCTCGGCCTGGCTGCT	0.607000														110			79		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478816	110478816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:110478816G>A	uc003yne.3	+	49	8527	c.8423G>A	c.(8422-8424)gGa>gAa	p.G2808E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2808					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGCACAAAGGACATACCGTC	0.403000										HNSCC(38;0.096)				5			7		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	335560	335560	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:335560C>T	uc001qic.2	-	8	1146	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	SLC6A13_uc009zdj.2_Silent_p.E342E|SLC6A13_uc010sdl.2_Silent_p.E260E	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	352					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACTCACCTGACTCGGCCACCT	0.587000														128			21		0	0	1	0	0
CCDC164	92749	broad.mit.edu	37	2	26676319	26676320	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:26676319_26676320GG>AA	uc002rhg.2	+	13	1895_1896	c.1821_1822GG>AA	c.(1819-1824)aaggaa>aaAAaa	p.E608K		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	608	Glu-rich.									cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						aaggggagaaggaagaagagga	0.569000														38			6		0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123296237	123296237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:123296237G>A	uc003vky.2	+	0	377	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	74	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										GGCCTATTGGGAAAAGGAGTC	0.552000														9			7		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640161	36640161	+	Silent	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:36640161G>A	uc002xhl.3	-	2	2267	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S	TTI1_uc002xhm.3_Silent_p.S686S	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	686							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGTGCTGCAGGGAGTCGTAGC	0.488000														64			38		0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	232010954	232010954	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:232010954G>A	uc002vrn.2	+	18	2161	c.1999_splice	c.e18-1	p.E667_splice	PSMD1_uc002vrm.2_Splice_Site_p.E667_splice|PSMD1_uc010fxu.2_Splice_Site_p.E531_splice	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	667					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATTCTTTCAGGAAGCCATTAA	0.398000														32			23		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19645957	19645957	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:19645957C>T	uc002gwk.3	-	1	995	c.732G>A	c.(730-732)tcG>tcA	p.S244S	ALDH3A1_uc010cqu.3_Intron|ALDH3A1_uc010vzd.2_Intron|ALDH3A1_uc002gwj.3_Intron|ALDH3A1_uc010cqv.3_Intron|ALDH3A1_uc002gwl.1_Intron			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	0					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CAGAGCACACCGAGCCAGGCC	0.612000														55			24		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302346	31302346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:31302346G>A	uc003jhe.2	+	5	1300	c.940G>A	c.(940-942)Gat>Aat	p.D314N	CDH6_uc003jhd.2_Missense_Mutation_p.D314N	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	314	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGAGGGGCTGGATATGTTTGA	0.473000														60			44		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583579	179583579	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179583579C>T	uc021vsy.1	-	80	20841	c.20616G>A	c.(20614-20616)agG>agA	p.R6872R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R3533R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7799	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACCAGTTCCCTGCTGCCTT	0.488000														19			17		0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89082392	89082392	+	RNA	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:89082392C>T	uc010fhf.3	+	3		c.420C>T			ANKRD36BP2_uc010fhg.3_Non-coding_Transcript|ANKRD36BP2_uc010fhh.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 36B pseudogene 2 (ANKRD36BP2), non-coding RNA.																		GAGAAAGATTCTGTTTCGAAT	0.343000														32			22		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17191139	17191139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr21:17191139G>A	uc011aby.1	+	9	1271	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	USP25_uc002yjz.1_Missense_Mutation_p.E352K|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.E352K	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	352					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTTACATTCAGAGAATTCAGG	0.403000														106			74		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941539	52941539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:52941539G>A	uc002pzk.3	+	3	932	c.865G>A	c.(865-867)Ggg>Agg	p.G289R	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.G276R	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CAAAGAATGTGGGAAAGTCTT	0.373000														19			15		0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48309809	48309810	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:48309809_48309810CC>TT	uc003csl.4	+	3	694_695	c.628_629CC>TT	c.(628-630)cca>TTa	p.P210L	ZNF589_uc010hjt.2_Missense_Mutation_p.P207L|ZNF589_uc003csn.3_Non-coding_Transcript|ZNF589_uc011bbg.2_Intron|ZNF589_uc003csm.3_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	Homo sapiens zinc finger protein 589 (ZNF589), mRNA.	210					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAGAAACCCCAGGGTTTGGA	0.480000														86			13		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819536	20819536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:20819536G>A	uc002zsl.2	-	3	878	c.721C>T	c.(721-723)Ctt>Ttt	p.L241F	KLHL22_uc011ahr.2_Missense_Mutation_p.L98F	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	241					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACTGTCTCAAGGAGCTTTGGG	0.612000														34			22		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881634	26881634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:26881634C>T	uc003jgs.1	-	11	2150	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	CDH9_uc011cnv.1_Missense_Mutation_p.D254N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D661Y(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCGCCTTCATCGTTGTAGGTC	0.438000														66			51		0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128750708	128750708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:128750708C>T	uc022bbe.1	+	1	770	c.200C>T	c.(199-201)tCc>tTc	p.S67F	MYC_uc003ysh.1_Missense_Mutation_p.S67F|MYC_uc003ysi.3_Missense_Mutation_p.S82F			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	67					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AGCCGCCGCTCCGGGCTCTGC	0.692000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			13		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105187408	105187408	+	Silent	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:105187408C>T	uc003vda.1	+	4	798	c.567C>T	c.(565-567)tcC>tcT	p.S189S	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	189					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGGCAGCCTCCACTCTAGTGT	0.368000														42			58		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105815148	105815148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:105815148C>T	uc001kxr.3	-	18	1868	c.1699G>A	c.(1699-1701)Gga>Aga	p.G567R	COL17A1_uc010qqv.1_Missense_Mutation_p.G551R	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	567	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCAGGGCTTCCTCGGAGATTT	0.458000														75			36		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115964519	115964519	+	Silent	SNP	A	G	G			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:115964519A>G	uc001lbg.1	+	9	1317	c.1164A>G	c.(1162-1164)gaA>gaG	p.E388E	TDRD1_uc001lbf.3_Silent_p.E379E|TDRD1_uc001lbh.1_Silent_p.E379E|TDRD1_uc001lbi.1_Silent_p.E379E|TDRD1_uc010qsc.2_Silent_p.E49E|TDRD1_uc001lbj.3_Silent_p.E97E	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	388					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCCAGCAGAAGGGAATTGGA	0.358000														18			33		0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108277597	108277597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:108277597G>A	uc001pkh.3	-	4	392	c.322C>T	c.(322-324)Cca>Tca	p.P108S	C11orf65_uc010rvx.1_Missense_Mutation_p.P59S|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	108										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TGCTTTGCTGGAAGTTTTGCA	0.368000														58			38		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175362936	175362936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:175362936C>T	uc001gkp.1	-	3	1417	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	TNR_uc009wwu.1_Missense_Mutation_p.E446K|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	446	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGCTGATTTCCCACCCATCG	0.473000														208			89		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36179185	36179185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:36179185C>T	uc003olv.4	+	6	2554	c.2330C>T	c.(2329-2331)gCc>gTc	p.A777V	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	777					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GAGATCAATGCCCTTCGGCAG	0.642000														19			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179656878	179656878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:179656878G>A	uc021vsy.1	-	9	1808	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	TTN_uc021vsz.1_Missense_Mutation_p.S528F|TTN_uc021vta.1_Missense_Mutation_p.S528F|TTN_uc021vtb.1_Missense_Mutation_p.S528F|TTN_uc002unb.2_Missense_Mutation_p.S528F|TTN_uc010frg.1_Missense_Mutation_p.S202F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	528							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGCTGCGGAAATTACTAC	0.294000														22			13		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5757934	5757934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:5757934C>T	uc001mbt.2	+	0	257	c.188C>T	c.(187-189)tCt>tTt	p.S63F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.S63F|OR56B1_uc009yev.1_Missense_Mutation_p.S63F	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CAGAACCCTTCTTTACAGCAG	0.498000														35			23		0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6648404	6648405	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:6648404_6648405delAG	uc009vmc.2	+	8	1706_1707	c.1583_1584delAG	c.(1582-1584)cagfs	p.Q528fs	ZBTB48_uc001anx.3_Frame_Shift_Del_p.Q528fs|ZBTB48_uc009vmd.2_Frame_Shift_Del_p.Q528fs|ZBTB48_uc001any.2_Frame_Shift_Del_p.Q166fs	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	528						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TTCTGTGAACAGCGCTTCACTG	0.629													---	51	---	---	34	---					
CLCN6	1185	broad.mit.edu	37	1	11889301	11889302	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:11889301_11889302delTG	uc001ate.4	+	12	1283_1284	c.1170_1171delTG	c.(1168-1173)tttgtgfs	p.F390fs	CLCN6_uc009vnh.1_Frame_Shift_Del_p.C335fs|CLCN6_uc010oat.2_Frame_Shift_Del_p.F106fs|CLCN6_uc010oau.2_Frame_Shift_Del_p.F368fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	390					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGGTGTTTGTGGCCTCGAT	0.525													---	219	---	---	89	---					
KLHDC7A	127707	broad.mit.edu	37	1	18809692	18809693	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:18809692_18809693delCT	uc001bax.3	+	0	2269_2270	c.2217_2218delCT	c.(2215-2220)gactctfs	p.D739fs	KLHDC7A_uc009vpg.3_Frame_Shift_Del_p.D521fs	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	739						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTAGCAGACTCTGTCTCACC	0.658													---	261	---	---	12	---					
HNRNPR	10236	broad.mit.edu	37	1	23665029	23665030	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:23665029_23665030delAG	uc001bgr.4	-	2	388_389	c.229_230delCT	c.(229-231)ctgfs	p.L77fs	HNRNPR_uc010odw.2_Frame_Shift_Del_p.L77fs|HNRNPR_uc009vql.3_5'UTR|HNRNPR_uc001bgp.4_Frame_Shift_Del_p.L77fs|HNRNPR_uc001bgs.4_5'UTR|HNRNPR_uc009vqk.3_5'UTR|HNRNPR_uc010odx.2_5'UTR	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	77	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			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)		TAGTACAGACAGAGCTCCTTCT	0.351													---	241	---	---	11	---					
KIAA0319L	79932	broad.mit.edu	37	1	35972235	35972236	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:35972235_35972236delAG	uc001byx.3	-	2	901_902	c.643_644delCT	c.(643-645)ctgfs	p.L215fs	KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Frame_Shift_Del_p.L215fs	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	215						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTGGTAGTCAGACCACCTAAT	0.421													---	261	---	---	62	---					
SZT2	23334	broad.mit.edu	37	1	43916008	43916009	+	Splice_Site	DEL	TC	-	-	rs139371901		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:43916008_43916009delTC	uc001cjk.2	+	71	10069	c.7459_splice	c.e71-1	p.S2487_splice	SZT2_uc001cjl.2_Splice_Site_p.S475_splice	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	3386						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCCCCACAGTCTCTGACAGTG	0.634													---	478	---	---	8	---					
DNTTIP2	30836	broad.mit.edu	37	1	94342789	94342790	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:94342789_94342790delCA	uc001dqf.3	-	1	759_760	c.701_702delTG	c.(700-702)gtgfs	p.V234fs	DNTTIP2_uc010otm.2_Non-coding_Transcript|DNTTIP2_uc009wdo.2_Frame_Shift_Del_p.V29fs	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CCTCTGAATTCACAGGTGTACC	0.361													---	288	---	---	60	---					
CLCC1	23155	broad.mit.edu	37	1	109479818	109479819	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:109479818_109479819delTC	uc021ora.1	-	8	1274_1275	c.1263_1264delGA	c.(1261-1266)gagattfs	p.E421fs	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Frame_Shift_Del_p.E371fs|CLCC1_uc001dwf.1_Frame_Shift_Del_p.E421fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.E300fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.E236fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	421						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TCTCTCAAAATCTCTCTTCTAC	0.515													---	148	---	---	18	---					
ABL2	27	broad.mit.edu	37	1	179095686	179095687	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:179095686_179095687delGT	uc001gmj.4	-	3	799_800	c.512_513delAC	c.(511-513)cacfs	p.H171fs	ABL2_uc010pnf.2_Frame_Shift_Del_p.H171fs|ABL2_uc010png.2_Frame_Shift_Del_p.H150fs|ABL2_uc010pnh.2_Frame_Shift_Del_p.H150fs|ABL2_uc009wxe.3_Frame_Shift_Del_p.H150fs|ABL2_uc001gmg.4_Frame_Shift_Del_p.H156fs|ABL2_uc001gmi.4_Frame_Shift_Del_p.H156fs|ABL2_uc010pne.2_Frame_Shift_Del_p.H135fs|ABL2_uc001gmk.3_Frame_Shift_Del_p.H135fs|ABL2_uc009wxf.2_Frame_Shift_Del_p.H156fs	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	171					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGTACCAGGAGTGTTTTTCCAG	0.530			T	ETV6	AML								---	169	---	---	81	---					
CNIH3	149111	broad.mit.edu	37	1	224804897	224804897	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:224804897delG	uc001hos.1	+	0	719	c.21delG	c.(19-21)gcgfs	p.A7fs		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	Homo sapiens cornichon homolog 3 (Drosophila) (CNIH3), mRNA.	7					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CTTTCGCTGCGTTCTGCTACA	0.597													---	745	---	---	379	---					
NTPCR	84284	broad.mit.edu	37	1	233105685	233105686	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr1:233105685_233105686delGT	uc001hvj.1	+	3	412_413	c.325_326delGT	c.(325-327)gtgfs	p.V109fs	NTPCR_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	Homo sapiens nucleoside-triphosphatase, cancer-related (NTPCR), mRNA.	109							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						AGGGCAAAGAGTGTGCGTCATC	0.520													---	117	---	---	62	---					
ITSN2	50618	broad.mit.edu	37	2	24469741	24469742	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:24469741_24469742delTC	uc002rfe.2	-	27	3567_3568	c.3309_3310delGA	c.(3307-3312)cagaaafs	p.Q1103fs	ITSN2_uc002rff.2_Frame_Shift_Del_p.Q1076fs|ITSN2_uc002rfg.3_Frame_Shift_Del_p.Q1103fs|ITSN2_uc002rfh.1_Non-coding_Transcript	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1103	SH3 4.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding	p.K1103Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCATCCTTTCTGTCGCTTTT	0.347													---	84	---	---	17	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:29295647_29295649delTCC	uc002rmt.2	-	0	1479_1481	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	493					response to stimulus|visual perception	photoreceptor outer segment		p.E492K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													---	424	---	---	8	---					
EIF2AK2	5610	broad.mit.edu	37	2	37334636	37334637	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:37334636_37334637delTC	uc010ynh.2	-	15	2070_2071	c.1513_1514delGA	c.(1513-1515)gatfs	p.D505fs	EIF2AK2_uc010fab.2_Frame_Shift_Del_p.D464fs|EIF2AK2_uc010yng.2_Frame_Shift_Del_p.D462fs|EIF2AK2_uc010fac.3_Frame_Shift_Del_p.D505fs	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	505	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				ATCAAATATATCTGAGATGATG	0.302													---	82	---	---	41	---					
SMYD5	10322	broad.mit.edu	37	2	73452993	73452994	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:73452993_73452994delAG	uc002siw.2	+	12	1205_1206	c.1176_1177delAG	c.(1174-1179)tcagaafs	p.S392fs	SMYD5_uc010yre.1_Frame_Shift_Del_p.S276fs	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	392	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ATGTGACCTCAgaagaggaaga	0.545													---	208	---	---	40	---					
MITD1	129531	broad.mit.edu	37	2	99790457	99790458	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:99790457_99790458delTC	uc002szs.1	-	1	221_222	c.173_174delGA	c.(172-174)agafs	p.R58fs	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.3_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	Homo sapiens MIT, microtubule interacting and transport, domain containing 1 (MITD1), mRNA.	58	MIT.				protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						TGAGATTACATCTCTTAGTATT	0.272													---	47	---	---	7	---					
ITGB6	3694	broad.mit.edu	37	2	160994167	160994168	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:160994167_160994168delCA	uc002ubh.2	-	9	1452_1453	c.1437_1438delTG	c.(1435-1440)tgtgccfs	p.C479fs	ITGB6_uc010fou.2_Frame_Shift_Del_p.C479fs|ITGB6_uc010zcq.1_Frame_Shift_Del_p.C437fs|ITGB6_uc010fov.1_Frame_Shift_Del_p.C479fs	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	479	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GGGTGGCAGGCACACACCCCAC	0.584													---	95	---	---	13	---					
CASP8	841	broad.mit.edu	37	2	202137381	202137382	+	Frame_Shift_Del	DEL	AG	-	-	rs149933993	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:202137381_202137382delAG	uc002uxr.1	+	4	641_642	c.432_433delAG	c.(430-435)atagagfs	p.I144fs	CASP8_uc010ftc.1_Frame_Shift_Del_p.I144fs|CASP8_uc002uxo.1_Frame_Shift_Del_p.I144fs|CASP8_uc002uxq.1_Frame_Shift_Del_p.I144fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.I176fs|CASP8_uc002uxs.1_Frame_Shift_Del_p.I144fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.I203fs|CASP8_uc010ftd.1_Frame_Shift_Del_p.I41fs|CASP8_uc002uxv.1_Frame_Shift_Del_p.I144fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.I144fs|CASP8_uc021vuy.1_Frame_Shift_Del_p.*109fs|CASP8_uc021vuz.1_Frame_Shift_Del_p.I144fs|CASP8_uc021vva.1_Frame_Shift_Del_p.I144fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.I144fs|CASP8_uc010fte.1_Frame_Shift_Del_p.I41fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	144	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATATTTTCATAGAGATGGAGAA	0.396										HNSCC(4;0.00038)			---	224	---	---	37	---					
INO80D	54891	broad.mit.edu	37	2	206911290	206911291	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:206911290_206911291delCT	uc002vaz.4	-	4	1415_1416	c.1010_1011delAG	c.(1009-1011)gagfs	p.E337fs		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	337					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GCGAGGCCTGCTCTGAGTCCTC	0.421													---	226	---	---	9	---					
ZNF142	7701	broad.mit.edu	37	2	219507187	219507189	+	In_Frame_Del	DEL	TGC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:219507187_219507189delTGC	uc002vin.3	-	7	4486_4488	c.4050_4052delGCA	c.(4048-4053)cagcac>cac	p.Q1350del	ZNF142_uc002vil.3_In_Frame_Del_p.Q1311del|ZNF142_uc010fvt.3_In_Frame_Del_p.Q1187del|ZNF142_uc002vim.3_In_Frame_Del_p.Q1187del	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGCCGTGGGTGCTGTTTACGGG	0.650													---	77	---	---	30	---					
ACSL3	2181	broad.mit.edu	37	2	223782822	223782823	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:223782822_223782823delAG	uc002vni.3	+	5	1066_1067	c.615_616delAG	c.(613-618)acagagfs	p.T205fs	ACSL3_uc002vnj.3_Frame_Shift_Del_p.T205fs	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	205					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TAAATGAAACAGAGGTGACCAA	0.351			T	ETV1	prostate								---	267	---	---	10	---					
DNER	92737	broad.mit.edu	37	2	230411682	230411683	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:230411682_230411683insA	uc002vpv.3	-	4	1120_1121	c.973_974insT	c.(973-975)tgcfs	p.C325fs	DNER_uc010zly.1_Frame_Shift_Ins_p.C53fs	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	325	EGF-like 3.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.C325*(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTTCGTGGTGCATTTTCCTTTT	0.446													---	292	---	---	74	---					
SP100	6672	broad.mit.edu	37	2	231314322	231314323	+	Frame_Shift_Del	DEL	AG	-	-	rs140509980		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:231314322_231314323delAG	uc002vqt.3	+	6	774_775	c.633_634delAG	c.(631-636)acagaafs	p.T211fs	SP100_uc002vqs.3_Frame_Shift_Del_p.T211fs|SP100_uc002vqu.1_Frame_Shift_Del_p.T211fs|SP100_uc010zmb.2_Frame_Shift_Del_p.T211fs|SP100_uc002vqq.2_Frame_Shift_Del_p.T211fs|SP100_uc010zmc.2_Frame_Shift_Del_p.T186fs|SP100_uc002vqv.2_Frame_Shift_Del_p.T176fs	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	211					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTGTGAAACAGAACAGATAAA	0.431													---	98	---	---	15	---					
NCL	4691	broad.mit.edu	37	2	232326309	232326310	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr2:232326309_232326310delCT	uc002vru.3	-	2	695_696	c.554_555delAG	c.(553-555)gagfs	p.E185fs	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	185	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		cgtcctcatcCTCTGAGGCAGG	0.505													---	50	---	---	7	---					
NR1D2	9975	broad.mit.edu	37	3	24003893	24003895	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:24003893_24003895delCAG	uc003ccs.2	+	4	1262_1264	c.943_945delCAG	c.(943-945)cagdel	p.Q316del	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_In_Frame_Del_p.Q241del	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	316					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TAGTGAGAGCCAGCAGCATCTCA	0.424													---	50	---	---	13	---					
TOP2B	7155	broad.mit.edu	37	3	25665051	25665052	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:25665051_25665052delCA	uc011awn.1	-	20	2724_2725	c.2681_2682delTG	c.(2680-2682)gtgfs	p.V894fs	TOP2B_uc003cdj.2_Frame_Shift_Del_p.V889fs|TOP2B_uc021wug.1_Frame_Shift_Del_p.V889fs	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	894					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGACATTGTTCACAATTTCCCT	0.361													---	107	---	---	22	---					
SLC4A7	9497	broad.mit.edu	37	3	27427459	27427460	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:27427459_27427460delTC	uc011aww.2	-	22	3636_3637	c.3415_3416delGA	c.(3415-3417)gaafs	p.E1139fs	SLC4A7_uc011awx.2_Frame_Shift_Del_p.E1126fs|SLC4A7_uc021wun.1_Frame_Shift_Del_p.E1015fs|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Frame_Shift_Del_p.E1122fs|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Frame_Shift_Del_p.E1011fs|SLC4A7_uc011axb.2_Frame_Shift_Del_p.E1126fs|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Frame_Shift_Del_p.E1011fs|SLC4A7_uc010hfl.3_Frame_Shift_Del_p.E680fs|SLC4A7_uc003cdv.3_Frame_Shift_Del_p.E1130fs|SLC4A7_uc003cdw.3_Frame_Shift_Del_p.E1006fs	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1130						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CCAACTAAGTTCTCTCTTCGTG	0.327													---	213	---	---	9	---					
GOLGA4	2803	broad.mit.edu	37	3	37365876	37365877	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:37365876_37365877delAG	uc003cgv.3	+	13	2859_2860	c.2499_2500delAG	c.(2497-2502)acagaafs	p.T833fs	GOLGA4_uc010hgr.2_Frame_Shift_Del_p.T394fs|GOLGA4_uc003cgw.3_Frame_Shift_Del_p.T855fs|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Frame_Shift_Del_p.T714fs	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	833	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATTTGGAAACAGAAAGAATTCT	0.411													---	141	---	---	34	---					
ZNF197	10168	broad.mit.edu	37	3	44684240	44684241	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:44684240_44684241delTG	uc003cnm.3	+	5	1824_1825	c.1618_1619delTG	c.(1618-1620)tgtfs	p.C540fs	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	540					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ACCCTATAAATGTGATGAATGT	0.406													---	186	---	---	80	---					
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49094314_49094316delTGC	uc010hkq.3	-	3	1613_1615	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_uc003cvu.3_In_Frame_Del_p.439_440QQ>Q|QRICH1_uc003cvv.3_In_Frame_Del_p.439_440QQ>Q|QRICH1_uc021wxr.1_In_Frame_Del_p.376_377QQ>Q	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	439	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562													---	175	---	---	7	---					
FAM212A	389119	broad.mit.edu	37	3	49842362	49842363	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:49842362_49842363delCT	uc003cxq.1	+	1	939_940	c.806_807delCT	c.(805-807)gctfs	p.A269fs		NM_203370	NP_976248	Q96EL1	CC054_HUMAN	Homo sapiens family with sequence similarity 212, member A (FAM212A), mRNA.	267																	CGCTTTGCAGCTCTCATGAGCT	0.589													---	727	---	---	27	---					
CYB561D2	11068	broad.mit.edu	37	3	50391061	50391062	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:50391061_50391062delCT	uc003dal.3	+	3	765_766	c.555_556delCT	c.(553-558)gcctctfs	p.A185fs	NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dam.3_Frame_Shift_Del_p.A185fs	NM_007022	NP_008953	O14569	C56D2_HUMAN	Homo sapiens cytochrome b-561 domain containing 2 (CYB561D2), mRNA.	185	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTTCACTGCCTCTGTCACTGG	0.554													---	779	---	---	30	---					
ACY1	95	broad.mit.edu	37	3	52021209	52021210	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:52021209_52021210delAG	uc003dcp.3	+	9	1028_1029	c.704_705delAG	c.(703-705)cagfs	p.Q235fs	ACY1_uc011bea.2_Frame_Shift_Del_p.Q325fs|ACY1_uc011beb.2_Frame_Shift_Del_p.Q235fs|ACY1_uc003dcq.3_Frame_Shift_Del_p.Q235fs|ACY1_uc021wzb.1_Frame_Shift_Del_p.Q200fs|ACY1_uc021wzc.1_Frame_Shift_Del_p.Q163fs|ACY1_uc021wzd.1_Intron	NM_000666	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.	235					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	AAGGAATGGCAGAGGTGAGGCA	0.550													---	369	---	---	63	---					
TMF1	7110	broad.mit.edu	37	3	69079119	69079120	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:69079119_69079120delTC	uc011bfx.2	-	10	2696_2697	c.2449_2450delGA	c.(2449-2451)gaafs	p.E817fs	TMF1_uc003dnn.3_Frame_Shift_Del_p.E814fs	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	814					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGCTGCACGTTCTCTCTCAACT	0.421													---	168	---	---	7	---					
C3orf38	285237	broad.mit.edu	37	3	88199298	88199299	+	Frame_Shift_Del	DEL	TG	-	-	rs17852198	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:88199298_88199299delTG	uc003dqw.3	+	0	406_407	c.96_97delTG	c.(94-99)actgtcfs	p.T32fs	CGGBP1_uc003dqu.3_5'Flank	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	32					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TATGCGACACTGTCACCAACCG	0.624													---	106	---	---	25	---					
QTRTD1	79691	broad.mit.edu	37	3	113798846	113798847	+	Frame_Shift_Del	DEL	AG	-	-	rs149531874	byFrequency	TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:113798846_113798847delAG	uc003eaz.3	+	6	962_963	c.876_877delAG	c.(874-879)acagagfs	p.T292fs	QTRTD1_uc003eay.3_Frame_Shift_Del_p.T280fs|QTRTD1_uc011biq.2_Frame_Shift_Del_p.T157fs|QTRTD1_uc011bir.2_Frame_Shift_Del_p.T174fs	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	280					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						ATCAAGTAACAGAGCGGGGATG	0.421													---	213	---	---	11	---					
PIGZ	80235	broad.mit.edu	37	3	196674137	196674138	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr3:196674137_196674138delAA	uc003fxh.3	-	2	1777_1778	c.1630_1631delTT	c.(1630-1632)ttafs	p.L544fs		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	544					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATGGGGAAATAAAAGTGTTTCA	0.589													---	109	---	---	34	---					
INTU	27152	broad.mit.edu	37	4	128590269	128590270	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr4:128590269_128590270delTG	uc003ifk.2	+	4	1154_1155	c.1051_1052delTG	c.(1051-1053)tgtfs	p.C351fs	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	351										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTCACACTCTGTGACATGCTG	0.327													---	71	---	---	18	---					
DNAJC21	134218	broad.mit.edu	37	5	34937626	34937627	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:34937626_34937627delAA	uc003jjb.3	+	4	861_862	c.634_635delAA	c.(634-636)aaafs	p.K212fs	DNAJC21_uc003jjc.3_Frame_Shift_Del_p.K212fs|DNAJC21_uc010iuu.1_Frame_Shift_Del_p.K96fs	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	212					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTTCATTCGTAAAAGAGATAAA	0.455													---	154	---	---	11	---					
MAP3K1	4214	broad.mit.edu	37	5	56177863	56177864	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:56177863_56177864delAC	uc003jqw.4	+	13	3337_3338	c.2836_2837delAC	c.(2836-2838)acafs	p.T946fs		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	946	Poly-Thr.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.S945S(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		aacaacaacaacaacaacaaca	0.416													---	68	---	---	9	---					
TNPO1	3842	broad.mit.edu	37	5	72192962	72192964	+	In_Frame_Del	DEL	GTT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:72192962_72192964delGTT	uc003kck.4	+	19	2469_2471	c.2322_2324delGTT	c.(2320-2325)acgttg>acg	p.L776del	TNPO1_uc011csj.1_In_Frame_Del_p.L726del|TNPO1_uc003kci.4_In_Frame_Del_p.L768del|TNPO1_uc003kcg.4_In_Frame_Del_p.L768del	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	776					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CACCAAAGACGTTGTTAGAGAAT	0.369													---	95	---	---	30	---					
TGFBI	7045	broad.mit.edu	37	5	135382971	135382972	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:135382971_135382972delTG	uc003lbf.4	+	5	794_795	c.633_634delTG	c.(631-636)actgtgfs	p.T211fs	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_Frame_Shift_Del_p.T37fs|TGFBI_uc011cyb.2_Frame_Shift_Del_p.T37fs	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	211	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGATTGTAACTGTGAACTGTGC	0.525													---	43	---	---	13	---					
KDM3B	51780	broad.mit.edu	37	5	137715279	137715280	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:137715279_137715280delAC	uc003lcy.1	+	4	787_788	c.587_588delAC	c.(586-588)tacfs	p.Y196fs	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	196					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTAGGTCCCTACAGTGTTCAAG	0.406													---	64	---	---	18	---					
NR3C1	2908	broad.mit.edu	37	5	142780124	142780125	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:142780124_142780125delTC	uc003lnd.3	-	1	1274_1275	c.280_281delGA	c.(280-282)gaafs	p.E94fs	NR3C1_uc003lmy.3_Frame_Shift_Del_p.E94fs|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Frame_Shift_Del_p.E94fs|NR3C1_uc003lnb.3_Frame_Shift_Del_p.E94fs|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Frame_Shift_Del_p.E94fs|NR3C1_uc003lne.3_Frame_Shift_Del_p.E94fs|NR3C1_uc003lnc.3_Frame_Shift_Del_p.E94fs|NR3C1_uc021yfa.1_Frame_Shift_Del_p.E94fs|NR3C1_uc021yfb.1_Frame_Shift_Del_p.E94fs|NR3C1_uc003lng.2_Frame_Shift_Del_p.E94fs|NR3C1_uc003lni.2_Frame_Shift_Del_p.E94fs	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	94	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CACTTTTGTTTCTGTCTCTCCC	0.460													---	198	---	---	10	---					
GPR151	134391	broad.mit.edu	37	5	145895587	145895588	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr5:145895587_145895588delAG	uc003lod.1	-	0	89_90	c.89_90delCT	c.(88-90)tctfs	p.S30fs		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	30						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGGAATCAGAGGGCAGGTA	0.559													---	218	---	---	15	---					
NEDD9	4739	broad.mit.edu	37	6	11185769	11185771	+	In_Frame_Del	DEL	AGA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:11185769_11185771delAGA	uc003mzv.2	-	6	2296_2298	c.2129_2131delTCT	c.(2128-2133)ttctac>tac	p.F710del	NEDD9_uc010joz.2_In_Frame_Del_p.F710del|NEDD9_uc003mzw.3_In_Frame_Del_p.F564del	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	710	Divergent helix-loop-helix motif.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGGTCATAGTAGAAGCACAGCAA	0.542													---	790	---	---	116	---					
TRIM27	5987	broad.mit.edu	37	6	28889744	28889744	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:28889744delG	uc003nlr.3	-	1	800	c.441delC	c.(439-441)ctcfs	p.L147fs	TRIM27_uc003nls.3_Frame_Shift_Del_p.L147fs|TRIM27_uc003nlt.1_Frame_Shift_Del_p.L147fs	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	147					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTAAATGGTCGAGCTGGTTCT	0.448			T	RET	papillary thyroid								---	109	---	---	79	---					
MOG	4340	broad.mit.edu	37	6	29634038	29634039	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:29634038_29634039delGA	uc003nnf.3	+	2	775_776	c.546_547delGA	c.(544-549)ctgagafs	p.L182fs	MOG_uc003nmy.2_Frame_Shift_Del_p.L182fs|MOG_uc003nna.3_Frame_Shift_Del_p.L66fs|MOG_uc011dlt.2_Frame_Shift_Del_p.L112fs|MOG_uc011dlv.2_Frame_Shift_Del_p.L66fs|MOG_uc011dlu.2_Frame_Shift_Del_p.L66fs|MOG_uc003nne.3_Frame_Shift_Del_p.L182fs|MOG_uc003nng.3_Frame_Shift_Del_p.L182fs|MOG_uc003nni.3_Frame_Shift_Del_p.L182fs|MOG_uc003nnh.3_Frame_Shift_Del_p.L182fs|MOG_uc003nnj.3_Frame_Shift_Del_p.L182fs|MOG_uc003nnk.3_Frame_Shift_Del_p.L182fs	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	182					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGTACAGACTGAGAGGTACAGG	0.540													---	255	---	---	40	---					
RXRB	6257	broad.mit.edu	37	6	33162541	33162542	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:33162541_33162542delAG	uc003odb.3	-	9	1698_1699	c.1519_1520delCT	c.(1519-1521)ctgfs	p.L507fs	RXRB_uc003odc.3_Frame_Shift_Del_p.L511fs|RXRB_uc011dqr.2_Frame_Shift_Del_p.L321fs	NM_021976	NP_068811	P28702	RXRB_HUMAN	Homo sapiens retinoid X receptor, beta (RXRB), mRNA.	507	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GAAGAAAAACAGATGCTCTAGA	0.564													---	138	---	---	32	---					
LYRM2	57226	broad.mit.edu	37	6	90347572	90347574	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:90347572_90347574delGAG	uc003pnm.3	-	1	112_114	c.73_75delCTC	c.(73-75)ctcdel	p.L25del	LYRM2_uc010kce.2_Non-coding_Transcript|LYRM2_uc003png.3_Non-coding_Transcript|LYRM2_uc010kcf.1_Non-coding_Transcript|LYRM2_uc010kcg.3_Non-coding_Transcript|LYRM2_uc003pnl.4_Non-coding_Transcript|LYRM2_uc021zcr.1_Non-coding_Transcript	NM_020466	NP_065199	Q9NU23	LYRM2_HUMAN	Homo sapiens LYR motif containing 2 (LYRM2), transcript variant 1, mRNA.	25										kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		TCCTTCTGTAGAGGAGAAGAACT	0.404													---	277	---	---	12	---					
AKAP12	9590	broad.mit.edu	37	6	151673453	151673454	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr6:151673453_151673454delAG	uc011eep.2	+	3	4167_4168	c.3927_3928delAG	c.(3925-3930)acagaafs	p.T1309fs	AKAP12_uc003qoe.3_Frame_Shift_Del_p.T1309fs|AKAP12_uc003qof.3_Frame_Shift_Del_p.T1211fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Del_p.T1204fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1309					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTGAAGGGACAGAAGAAGCTGA	0.470													---	110	---	---	27	---					
CUX1	1523	broad.mit.edu	37	7	101845205	101845206	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:101845205_101845206delAG	uc003uys.4	+	17	2788_2789	c.2661_2662delAG	c.(2659-2664)tcagagfs	p.S887fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Del_p.S876fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	876					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P888A(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCTCGTCGTCAGAGTACTGGAA	0.673													---	181	---	---	12	---					
MLL5	55904	broad.mit.edu	37	7	104752698	104752699	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr7:104752698_104752699delTT	uc003vcm.3	+	26	5029_5030	c.4495_4496delTT	c.(4495-4497)tttfs	p.F1499fs	MLL5_uc010ljc.3_Frame_Shift_Del_p.F1499fs|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Frame_Shift_Del_p.F233fs	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1499	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TCAAAGAAACTTTTATCCAGCA	0.470													---	35	---	---	20	---					
ZNF395	55893	broad.mit.edu	37	8	28209270	28209271	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:28209270_28209271delCT	uc003xgq.3	-	6	1062_1063	c.974_975delAG	c.(973-975)gagfs	p.E325fs	ZNF395_uc003xgt.3_Frame_Shift_Del_p.E325fs|ZNF395_uc003xgr.3_Frame_Shift_Del_p.E325fs|ZNF395_uc003xgs.3_Frame_Shift_Del_p.E325fs	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	325					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TCAGCTGCACCTCTGTGTAGTA	0.619													---	441	---	---	12	---					
SHARPIN	81858	broad.mit.edu	37	8	145154268	145154269	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:145154268_145154269delCA	uc003zba.3	-	5	1317_1318	c.833_834delTG	c.(832-834)gtgfs	p.V278fs	SHARPIN_uc003zbb.3_Non-coding_Transcript	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	Homo sapiens SHANK-associated RH domain interactor (SHARPIN), transcript variant 1, mRNA.	278	Interaction with SHANK1 (By similarity).|Ubiquitin-like.				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	LUBAC complex|cytosol	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCGCTCAGGCACACACAGGCA	0.619													---	131	---	---	25	---					
FBXL6	26233	broad.mit.edu	37	8	145579332	145579333	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr8:145579332_145579333delCA	uc003zcb.3	-	8	1554_1555	c.1478_1479delTG	c.(1477-1479)gtgfs	p.V493fs	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Frame_Shift_Del_p.V220fs|FBXL6_uc003zca.3_Frame_Shift_Del_p.V487fs|FBXL6_uc010mfx.3_Frame_Shift_Del_p.V254fs|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	493					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTGCTGATCACAGAGCTGTG	0.653													---	43	---	---	12	---					
NFX1	4799	broad.mit.edu	37	9	33366735	33366736	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:33366735_33366736delAG	uc003zsr.3	+	21	3304_3305	c.3151_3152delAG	c.(3151-3153)agtfs	p.S1051fs	NFX1_uc003zsq.3_Frame_Shift_Del_p.S1050fs	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	1050	R3H.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAGCTATGACAGTGAACCGAAG	0.545													---	49	---	---	23	---					
ACTL7B	10880	broad.mit.edu	37	9	111617184	111617185	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:111617184_111617185delCA	uc004bdi.3	-	0	1091_1092	c.1026_1027delTG	c.(1024-1029)tgtggcfs	p.C342fs		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	342						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			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						GTGCAGCCGCCACACAGTAGCA	0.693													---	79	---	---	39	---					
PPP6C	5537	broad.mit.edu	37	9	127933387	127933388	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:127933387_127933388delCT	uc010mwv.3	-	2	479_480	c.258_259delAG	c.(256-261)acagtgfs	p.T86fs	PPP6C_uc004bpg.4_Frame_Shift_Del_p.T49fs|PPP6C_uc010mww.3_Frame_Shift_Del_p.T49fs|PPP6C_uc011lzr.2_5'UTR	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	49					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCTCCACACACTGTTACTGGTG	0.371													---	282	---	---	9	---					
REXO4	57109	broad.mit.edu	37	9	136272149	136272151	+	In_Frame_Del	DEL	CTT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:136272149_136272151delCTT	uc004cdm.3	-	7	1395_1397	c.1195_1197delAAG	c.(1195-1197)aagdel	p.K399del	REXO4_uc011mde.2_In_Frame_Del_p.K262del|REXO4_uc011mdf.2_In_Frame_Del_p.K262del|REXO4_uc004cdn.3_In_Frame_Del_p.K150del	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	Homo sapiens REX4, RNA exonuclease 4 homolog (S. cerevisiae) (REXO4), mRNA.	399						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	p.K399delK(2)		kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TCTCCCACTCCTTCTTCACCATG	0.621											OREG0019587	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	102	---	---	59	---					
NACC2	138151	broad.mit.edu	37	9	138903681	138903681	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr9:138903681delT	uc004cgv.4	-	5	1601	c.1445delA	c.(1444-1446)gagfs	p.E482fs	NACC2_uc010nbh.3_Frame_Shift_Del_p.E121fs	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.	482					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						AGGCGGGAACTCGGGGTCGAG	0.687													---	0	---	---	9	---					
TET1	80312	broad.mit.edu	37	10	70451223	70451224	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:70451223_70451224delGT	uc001jok.4	+	11	6568_6569	c.6063_6064delGT	c.(6061-6066)gagtgtfs	p.E2021fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	2021					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTTGATTGAGTGTGCCCGGCG	0.520													---	174	---	---	33	---					
AGAP11	119385	broad.mit.edu	37	10	88768817	88768819	+	In_Frame_Del	DEL	GAA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:88768817_88768819delGAA	uc001kee.2	+	11	2012_2014	c.808_810delGAA	c.(808-810)gaadel	p.E273del	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	273	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACTGCTGAGGAAGAAGAAGAAA	0.493													---	96	---	---	24	---					
CALHM2	51063	broad.mit.edu	37	10	105209357	105209358	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:105209357_105209358delAG	uc001kxa.3	-	2	952_953	c.341_342delCT	c.(340-342)cctfs	p.P114fs	CALHM2_uc001kxc.3_Frame_Shift_Del_p.P114fs|CALHM2_uc001kxb.3_Frame_Shift_Del_p.P114fs|CALHM2_uc001kxd.1_Frame_Shift_Del_p.P114fs	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	114						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ACCAGGTGACAGGGGCCACAGC	0.624													---	183	---	---	51	---					
MKI67	4288	broad.mit.edu	37	10	129902322	129902323	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr10:129902322_129902323delTG	uc001lke.3	-	12	7976_7977	c.7781_7782delCA	c.(7780-7782)acafs	p.T2594fs	MKI67_uc001lkf.3_Frame_Shift_Del_p.T2234fs|MKI67_uc009yav.1_Frame_Shift_Del_p.T2169fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.T1744fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2594	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGCAGTGTCTGTTAGTTCTGG	0.485													---	120	---	---	42	---					
MUC5B	727897	broad.mit.edu	37	11	1254404	1254410	+	Frame_Shift_Del	DEL	GCGGGCG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:1254404_1254410delGCGGGCG	uc001lta.3	+	17	2286_2292	c.2227_2233delGCGGGCG	c.(2227-2235)gcgggcgccfs	p.A743fs	MUC5B_uc009yct.2_Frame_Shift_Del_p.A743fs	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	743	TIL 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCAATGACGCGGGCGCCTGTGTGCC	0.700													---	23	---	---	16	---					
MADD	8567	broad.mit.edu	37	11	47307065	47307066	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:47307065_47307066delCT	uc001ner.1	+	13	2666_2667	c.2475_2476delCT	c.(2473-2478)gactctfs	p.D825fs	MADD_uc001neq.2_Frame_Shift_Del_p.D825fs|MADD_uc001nev.1_Frame_Shift_Del_p.D782fs|MADD_uc001nes.1_Frame_Shift_Del_p.D782fs|MADD_uc001net.1_Frame_Shift_Del_p.D825fs|MADD_uc009yln.1_Frame_Shift_Del_p.D782fs|MADD_uc001neu.1_Frame_Shift_Del_p.D782fs|MADD_uc001nez.2_Frame_Shift_Del_p.D782fs|MADD_uc001new.2_Frame_Shift_Del_p.D825fs|MADD_uc001nex.2_Frame_Shift_Del_p.D825fs	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	825					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGAGTCAGACTCTCGGGCAAG	0.574													---	284	---	---	217	---					
TMEM132A	54972	broad.mit.edu	37	11	60698117	60698118	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:60698117_60698118delAG	uc001nqi.3	+	4	1195_1196	c.1002_1003delAG	c.(1000-1005)acagagfs	p.T334fs	TMEM132A_uc001nqj.3_Frame_Shift_Del_p.T334fs|TMEM132A_uc001nqk.3_Frame_Shift_Del_p.T347fs|TMEM132A_uc001nql.1_Frame_Shift_Del_p.T347fs	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	334						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGGGCTCACAGAGCCAGATTC	0.634													---	118	---	---	32	---					
DDB1	1642	broad.mit.edu	37	11	61076533	61076534	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:61076533_61076534delCA	uc001nrc.4	-	20	2808_2809	c.2582_2583delTG	c.(2581-2583)gtgfs	p.V861fs	DDB1_uc010rle.1_Frame_Shift_Del_p.V172fs|DDB1_uc010rlf.1_Frame_Shift_Del_p.V861fs	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	861	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTTTTCAGCCACAGTCTGTAG	0.480								Nucleotide excision repair (NER)					---	188	---	---	30	---					
AHNAK	79026	broad.mit.edu	37	11	62288507	62288508	+	Frame_Shift_Del	DEL	AT	-	-	rs114666146		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:62288507_62288508delAT	uc001ntl.3	-	4	13681_13682	c.13381_13382delAT	c.(13381-13383)atgfs	p.M4461fs	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4461					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)				AAAGTCAGGCATAGAGATTTTG	0.450													---	379	---	---	12	---					
SF3B2	10992	broad.mit.edu	37	11	65822714	65822716	+	In_Frame_Del	DEL	AGA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:65822714_65822716delAGA	uc001ogy.1	+	3	466_468	c.426_428delAGA	c.(424-429)tcagag>tcg	p.E145del	SF3B2_uc001ogx.1_In_Frame_Del_p.E145del	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	145					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TGGCACTGTCAGAGGAGGAGCGG	0.650													---	90	---	---	18	---					
PPFIA1	8500	broad.mit.edu	37	11	70171677	70171678	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:70171677_70171678delAG	uc001opo.3	+	4	818_819	c.603_604delAG	c.(601-606)aaagagfs	p.K201fs	PPFIA1_uc001opn.2_Frame_Shift_Del_p.K201fs|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	201					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCACACACAAAGAGGTAAGCTT	0.421													---	236	---	---	37	---					
INPPL1	3636	broad.mit.edu	37	11	71939239	71939240	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:71939239_71939240delAG	uc001osf.3	+	1	335_336	c.188_189delAG	c.(187-189)cagfs	p.Q63fs	INPPL1_uc001osg.3_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	63	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATCAGGTATCAGAAGCATGTGC	0.579													---	244	---	---	46	---					
OR2AT4	341152	broad.mit.edu	37	11	74800209	74800210	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:74800209_74800210delAG	uc010rro.2	-	0	549_550	c.549_550delCT	c.(547-552)ttctgtfs	p.F183fs		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGATGATCACAGAAGCAGTGGT	0.584													---	76	---	---	15	---					
BIRC2	329	broad.mit.edu	37	11	102221293	102221294	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:102221293_102221294insA	uc001pgy.3	+	1	2107_2108	c.708_709insA	c.(706-711)gctatgfs	p.A236fs	BIRC2_uc010ruq.2_Frame_Shift_Ins_p.A187fs|BIRC2_uc010rur.2_Frame_Shift_Ins_p.A236fs	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	236					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGGATGATGCTATGTCAGAACA	0.441													---	211	---	---	56	---					
TTC12	54970	broad.mit.edu	37	11	113215119	113215120	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:113215119_113215120delGA	uc001pnv.3	+	12	1234_1235	c.1129_1130delGA	c.(1129-1131)gagfs	p.E377fs	TTC12_uc001pnu.3_Frame_Shift_Del_p.E371fs|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Frame_Shift_Del_p.E221fs	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	371							binding	p.L376L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CGCCCAGACTGAGAGCGGACGG	0.589													---	303	---	---	54	---					
HYOU1	10525	broad.mit.edu	37	11	118919538	118919539	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr11:118919538_118919539delTC	uc001puu.2	-	17	2245_2246	c.2052_2053delGA	c.(2050-2055)gagaagfs	p.E684fs	HYOU1_uc001put.2_Frame_Shift_Del_p.E649fs|HYOU1_uc010ryu.1_Frame_Shift_Del_p.E642fs|HYOU1_uc010ryv.1_Frame_Shift_Del_p.E573fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.E684fs|HYOU1_uc010ryw.2_Non-coding_Transcript	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	684						endoplasmic reticulum lumen	ATP binding|protein binding	p.G683A(1)|p.E684Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TTCTGCTTCTTCTCTCCCTCTG	0.609													---	96	---	---	29	---					
WNK1	65125	broad.mit.edu	37	12	1017101	1017102	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:1017101_1017102delCA	uc021qss.1	+	26	8155_8156	c.7512_7513delCA	c.(7510-7515)ggcacafs	p.G2504fs	WNK1_uc001qio.4_Frame_Shift_Del_p.G2244fs|WNK1_uc021qst.1_Frame_Shift_Del_p.G2496fs|WNK1_uc001qip.4_Frame_Shift_Del_p.G1996fs|WNK1_uc001qir.4_Frame_Shift_Del_p.G1417fs|WNK1_uc009zdn.1_Non-coding_Transcript	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	2244					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCAGGAAGGGCACATTCACAGA	0.525													---	263	---	---	12	---					
DNAJC14	85406	broad.mit.edu	37	12	56221295	56221296	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:56221295_56221296delTC	uc001shu.2	-	0	1203_1204	c.1147_1148delGA	c.(1147-1149)gatfs	p.D383fs	DNAJC14_uc001shx.1_Frame_Shift_Del_p.D383fs|DNAJC14_uc009zob.1_Frame_Shift_Del_p.D383fs|DNAJC14_uc001shy.1_Frame_Shift_Del_p.D383fs	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA.	383					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TGGCCTGCTATCTCTCAGCAGA	0.550													---	119	---	---	57	---					
CNOT2	4848	broad.mit.edu	37	12	70732570	70732572	+	In_Frame_Del	DEL	AAC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:70732570_70732572delAAC	uc001svv.3	+	10	1728_1730	c.1146_1148delAAC	c.(1144-1149)ttaaca>tta	p.T384del	CNOT2_uc009zro.3_In_Frame_Del_p.T384del|CNOT2_uc009zrp.3_In_Frame_Del_p.T364del|CNOT2_uc009zrq.3_In_Frame_Del_p.T384del|CNOT2_uc001svw.1_In_Frame_Del_p.T124del	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	384					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAAGTGACTTAACAACATTAGGC	0.399													---	656	---	---	24	---					
UTP20	27340	broad.mit.edu	37	12	101774928	101774929	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:101774928_101774929delTC	uc001tia.1	+	57	7751_7752	c.7595_7596delTC	c.(7594-7596)atcfs	p.I2532fs		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2532					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATGAAAAGTATCTCTCTCGCCT	0.366													---	137	---	---	8	---					
STX2	2054	broad.mit.edu	37	12	131291609	131291610	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr12:131291609_131291610delCA	uc001uio.3	-	5	547_548	c.380_381delTG	c.(379-381)gtgfs	p.V127fs	STX2_uc001uip.3_Frame_Shift_Del_p.V127fs|STX2_uc010tbj.2_Frame_Shift_Del_p.V127fs	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	127					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	SNAP receptor activity|calcium-dependent protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CCATGGCTTCCACAAACTTCCG	0.510													---	130	---	---	31	---					
CKAP2	26586	broad.mit.edu	37	13	53048124	53048125	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr13:53048124_53048125delAA	uc001vgv.2	+	7	1907_1908	c.1710_1711delAA	c.(1708-1713)acaaaafs	p.T570fs	CKAP2_uc001vgu.2_Frame_Shift_Del_p.T569fs|CKAP2_uc010tha.1_Frame_Shift_Del_p.T521fs	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.	570					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ACAACAAAACAAAAGATCCAAC	0.347													---	56	---	---	15	---					
ADCY4	196883	broad.mit.edu	37	14	24803757	24803759	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:24803757_24803759delCAG	uc001wow.3	-	0	519_521	c.100_102delCTG	c.(100-102)ctgdel	p.L34del	ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_In_Frame_Del_p.L34del|ADCY4_uc001woy.3_In_Frame_Del_p.L34del|ADCY4_uc001woz.4_In_Frame_Del_p.L34del	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	34					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCACGATCCCCAGCAGCAGCAGC	0.700													---	11	---	---	5	---					
C14orf109	26175	broad.mit.edu	37	14	93652908	93652909	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:93652908_93652909delAG	uc001ybk.4	+	1	386_387	c.288_289delAG	c.(286-291)acagtgfs	p.T96fs	MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Frame_Shift_Del_p.T134fs|C14orf109_uc021sax.1_Frame_Shift_Del_p.T96fs	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.	128						integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		ATCCCAAAACAGTGGGCTACTG	0.416													---	169	---	---	7	---					
CDCA4	55038	broad.mit.edu	37	14	105477801	105477802	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr14:105477801_105477802delCT	uc021sep.1	-	0	465_466	c.465_466delAG	c.(463-468)agaggafs	p.R155fs	CDCA4_uc001yqa.2_Frame_Shift_Del_p.R155fs|CDCA4_uc001yqb.2_Frame_Shift_Del_p.R155fs	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	155						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGAAAGCTTCCTCTGTTTTCTC	0.535													---	52	---	---	24	---					
CYFIP1	23191	broad.mit.edu	37	15	22954351	22954353	+	In_Frame_Del	DEL	AAG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:22954351_22954353delAAG	uc001yus.3	+	13	1605_1607	c.1501_1503delAAG	c.(1501-1503)aagdel	p.K504del	CYFIP1_uc001yut.3_In_Frame_Del_p.K504del|CYFIP1_uc010aya.1_In_Frame_Del_p.K532del|CYFIP1_uc001yuu.3_5'Flank	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	504					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGGCCATCAAGAAGAAGAAGA	0.596													---	261	---	---	9	---					
ARHGAP11A	9824	broad.mit.edu	37	15	32929647	32929648	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:32929647_32929648delCT	uc001zgy.1	+	11	3395_3396	c.2673_2674delCT	c.(2671-2676)tcctctfs	p.S891fs	ARHGAP11A_uc010ubw.1_Frame_Shift_Del_p.S702fs|ARHGAP11A_uc010ubx.1_Frame_Shift_Del_p.S702fs	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	891					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CAAAAGATTCCTCTGTTTCATG	0.411													---	181	---	---	8	---					
MEF2A	4205	broad.mit.edu	37	15	100252710	100252715	+	In_Frame_Del	DEL	CAGCAG	-	-	rs72276751		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr15:100252710_100252715delCAGCAG	uc010urw.2	+	10	1617_1622	c.1258_1263delCAGCAG	c.(1258-1263)cagcagdel	p.QQ428del	MEF2A_uc002bve.3_In_Frame_Del_p.QQ426del|MEF2A_uc002bvg.3_In_Frame_Del_p.QQ418del|MEF2A_uc010urv.2_In_Frame_Del_p.QQ358del|MEF2A_uc010bos.3_In_Frame_Del_p.QQ418del|MEF2A_uc002bvf.3_In_Frame_Del_p.QQ420del|MEF2A_uc002bvi.3_In_Frame_Del_p.QQ418del|MEF2A_uc010bot.3_In_Frame_Del_p.QQ350del	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	428	Gln/Pro-rich.				BMK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK 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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	RNA polymerase II regulatory region sequence-specific DNA binding|SMAD binding|activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ATCGGGCTTCcagcagcagcagcagc	0.607													---	7	---	---	5	---					
TMC5	79838	broad.mit.edu	37	16	19498593	19498594	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:19498593_19498594delCT	uc002dgc.4	+	16	3267_3268	c.2518_2519delCT	c.(2518-2520)ctcfs	p.L840fs	TMC5_uc010vaq.2_Frame_Shift_Del_p.L788fs|TMC5_uc002dgb.4_Frame_Shift_Del_p.L840fs|TMC5_uc010var.2_Frame_Shift_Del_p.L840fs|TMC5_uc002dgd.1_Frame_Shift_Del_p.L594fs|TMC5_uc002dge.4_Frame_Shift_Del_p.L594fs|TMC5_uc002dgf.4_Frame_Shift_Del_p.L523fs|TMC5_uc002dgg.4_Frame_Shift_Del_p.L481fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	840						integral to membrane		p.L840H(1)|p.L594H(1)		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						CATCTTCTTGCTCTTTTTCCCA	0.545													---	39	---	---	24	---					
FHOD1	29109	broad.mit.edu	37	16	67272181	67272182	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:67272181_67272182delCA	uc002esl.3	-	4	582_583	c.470_471delTG	c.(469-471)gtgfs	p.V157fs	FHOD1_uc010ced.3_5'UTR|FHOD1_uc010vjh.1_Intron	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	157	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTCTGAATGCACAAATTCAGG	0.599													---	65	---	---	35	---					
TMED6	146456	broad.mit.edu	37	16	69383480	69383481	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:69383480_69383481delTA	uc002exc.2	-	1	343_344	c.287_288delTA	c.(286-288)atafs	p.I96fs		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 6 (TMED6), mRNA.	96	GOLD.				transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						GGGAGGTGTCTATGAGAAATCC	0.480													---	236	---	---	11	---					
AP1G1	164	broad.mit.edu	37	16	71807192	71807193	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr16:71807192_71807193delTC	uc010cgg.3	-	3	713_714	c.399_400delGA	c.(397-402)gagatgfs	p.E133fs	AP1G1_uc021tkz.1_5'UTR|AP1G1_uc002fbb.3_Frame_Shift_Del_p.E156fs|AP1G1_uc010vmg.1_Non-coding_Transcript|AP1G1_uc010vmh.1_Frame_Shift_Del_p.E215fs|AP1G1_uc021tky.1_Frame_Shift_Del_p.E133fs	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	133					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TCTCTGCACATCTCTGAGGAGC	0.436													---	64	---	---	25	---					
BECN1	8678	broad.mit.edu	37	17	40963729	40963730	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:40963729_40963730delCA	uc002ibo.3	-	10	1262_1263	c.1127_1128delTG	c.(1126-1128)gtgfs	p.V376fs	BECN1_uc010whb.1_Frame_Shift_Del_p.V289fs|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Frame_Shift_Del_p.V376fs	NM_003766	NP_003757	Q14457	BECN1_HUMAN	Homo sapiens beclin 1, autophagy related (BECN1), mRNA.	376					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGAACTGCTGCACACAGTCCAG	0.480													---	278	---	---	11	---					
AOC2	314	broad.mit.edu	37	17	41002164	41002165	+	Frame_Shift_Del	DEL	AG	-	-	rs62001928		TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:41002164_41002165delAG	uc002ibu.3	+	3	2105_2106	c.2070_2071delAG	c.(2068-2073)acagtgfs	p.T690fs	AOC2_uc002ibt.3_Frame_Shift_Del_p.T663fs|AOC3_uc002ibv.3_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	690					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCCCAAACACAGTGACTCTGGG	0.540													---	425	---	---	99	---					
EFTUD2	9343	broad.mit.edu	37	17	42928730	42928731	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:42928730_42928731delCT	uc002ihn.2	-	27	3091_3092	c.2830_2831delAG	c.(2830-2832)agtfs	p.S944fs	EFTUD2_uc010wje.1_Frame_Shift_Del_p.S909fs|EFTUD2_uc010wjf.1_Frame_Shift_Del_p.S934fs	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	944						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CACATCTTCACTGAGGCCCTGC	0.505													---	236	---	---	30	---					
BRIP1	83990	broad.mit.edu	37	17	59761289	59761290	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:59761289_59761290delTC	uc002izk.2	-	19	3423_3424	c.3117_3118delGA	c.(3115-3120)gagaagfs	p.E1039fs		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	1039	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.E1039E(3)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTCCATCTTCTCTGTTTTGA	0.416			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					---	339	---	---	78	---					
SRP68	6730	broad.mit.edu	37	17	74036529	74036530	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr17:74036529_74036530delTC	uc002jqk.1	-	14	1661_1662	c.1626_1627delGA	c.(1624-1629)gagaccfs	p.E542fs	SRP68_uc010wsu.1_Frame_Shift_Del_p.E441fs|SRP68_uc002jql.1_Frame_Shift_Del_p.E504fs|SRP68_uc002jqj.1_Frame_Shift_Del_p.E203fs	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	542					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GAGGAGGAGGTCTCTGTTTGAT	0.416													---	164	---	---	27	---					
CACNA1A	773	broad.mit.edu	37	19	13363901	13363902	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:13363901_13363902delAG	uc002mwy.3	-	29	5005_5006	c.4769_4770delCT	c.(4768-4770)tctfs	p.S1590fs	CACNA1A_uc002mwx.3_Frame_Shift_Del_p.S296fs|CACNA1A_uc010dzc.2_Frame_Shift_Del_p.S1116fs|CACNA1A_uc010xnd.2_Frame_Shift_Del_p.S1593fs|CACNA1A_uc021ups.1_Frame_Shift_Del_p.S1590fs|CACNA1A_uc010xne.2_Frame_Shift_Del_p.S1593fs|CACNA1A_uc010dze.2_Frame_Shift_Del_p.S1590fs|CACNA1A_uc021upt.1_Frame_Shift_Del_p.S1591fs|CACNA1A_uc002mwv.3_Frame_Shift_Del_p.S107fs	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1591					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CATAAGCAACAGAAGCCCCATA	0.530													---	125	---	---	25	---					
EMR2	30817	broad.mit.edu	37	19	14866667	14866667	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:14866667delG	uc002mzp.1	-	12	1671	c.1215delC	c.(1213-1215)gtcfs	p.V405fs	EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Frame_Shift_Del_p.V405fs|EMR2_uc002mzo.1_Intron|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Frame_Shift_Del_p.V356fs|EMR2_uc002mzs.1_Frame_Shift_Del_p.V263fs|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Frame_Shift_Del_p.V312fs|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	405					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CTGGAATGGAGACAAGGCCCA	0.587													---	37	---	---	25	---					
AKAP8L	26993	broad.mit.edu	37	19	15511842	15511843	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:15511842_15511843delTC	uc002naw.1	-	5	927_928	c.828_829delGA	c.(826-831)aagaagfs	p.K276fs	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Frame_Shift_Del_p.K215fs|AKAP8L_uc002nay.1_Frame_Shift_Del_p.K276fs|AKAP8L_uc002naz.3_Frame_Shift_Del_p.K124fs	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	276						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCTTTCTCTTCTTCTTCTTGG	0.604													---	49	---	---	15	---					
AP1M1	8907	broad.mit.edu	37	19	16318863	16318864	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:16318863_16318864delGA	uc002ndv.2	+	3	474_475	c.301_302delGA	c.(301-303)gagfs	p.E101fs	AP1M1_uc002ndu.2_Frame_Shift_Del_p.E101fs|AP1M1_uc010xpd.1_Frame_Shift_Del_p.E101fs	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	101					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GCTGGAGGAGGAGAGCATCCGG	0.559													---	570	---	---	14	---					
ACTN4	81	broad.mit.edu	37	19	39214582	39214583	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:39214582_39214583delAG	uc002oja.2	+	13	1676_1677	c.1557_1558delAG	c.(1555-1560)acagagfs	p.T519fs	ACTN4_uc021uug.1_Frame_Shift_Del_p.T300fs	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	519					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTAGAAAACAGAGAAGCAGCT	0.629													---	104	---	---	16	---					
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:42753149_42753151delGAA	uc002ote.4	-	3	1271_1273	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_uc002otd.4_In_Frame_Del_p.102_103SS>S	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	371	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.680													---	250	---	---	7	---					
CADM4	199731	broad.mit.edu	37	19	44130302	44130305	+	Frame_Shift_Del	DEL	TGCT	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:44130302_44130305delTGCT	uc002oxc.1	-	4	684_687	c.635_638delAGCA	c.(634-639)aagcagfs	p.K212fs		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	212	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GTACTGCGTCTGCTTGCTGTGTCC	0.637													---	74	---	---	17	---					
ZNF224	7767	broad.mit.edu	37	19	44605024	44605025	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:44605024_44605025delAG	uc002oyh.2	+	3	403_404	c.86_87delAG	c.(85-87)cagfs	p.Q29fs		NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	29	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GACCTTGCTCAGAGGAAGCTGT	0.535													---	443	---	---	9	---					
ZNF227	7770	broad.mit.edu	37	19	44739863	44739864	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:44739863_44739864delAG	uc002oyu.3	+	5	1485_1486	c.1280_1281delAG	c.(1279-1281)cagfs	p.Q427fs	ZNF227_uc010xwu.2_Frame_Shift_Del_p.Q376fs|ZNF227_uc002oyv.3_Frame_Shift_Del_p.Q427fs|ZNF227_uc010xwv.2_Frame_Shift_Del_p.Q376fs|ZNF227_uc010xww.2_Frame_Shift_Del_p.Q348fs|ZNF227_uc002oyw.3_Frame_Shift_Del_p.Q399fs|ZNF227_uc010ejh.3_Frame_Shift_Del_p.Q420fs|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CACATCCATCAGAGAGTCCACA	0.495													---	143	---	---	37	---					
ZNF497	162968	broad.mit.edu	37	19	58868600	58868609	+	Frame_Shift_Del	DEL	GTACGGCTTC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr19:58868600_58868609delGTACGGCTTC	uc002qsh.2	-	2	676_685	c.393_402delGAAGCCGTAC	c.(391-402)gagaagccgtacfs	p.E131fs	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Frame_Shift_Del_p.E131fs|ZNF497_uc021vcw.1_Frame_Shift_Del_p.E131fs|BC023201_uc002qsj.1_5'UTR|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGGGGCACGTGTACGGCTTCTCGCCTGTGT	0.686													---	44	---	---	15	---					
ZMYND8	23613	broad.mit.edu	37	20	45850083	45850084	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr20:45850083_45850084delTC	uc010zxy.1	-	19	3401_3402	c.3319_3320delGA	c.(3319-3321)gaafs	p.E1107fs	ZMYND8_uc010ghq.1_Frame_Shift_Del_p.E711fs|ZMYND8_uc010ghr.1_Frame_Shift_Del_p.E982fs|ZMYND8_uc002xst.1_Frame_Shift_Del_p.E962fs|ZMYND8_uc002xsu.1_Frame_Shift_Del_p.E953fs|ZMYND8_uc002xsv.1_Frame_Shift_Del_p.E1008fs|ZMYND8_uc002xsw.1_Frame_Shift_Del_p.E786fs|ZMYND8_uc002xsx.1_Frame_Shift_Del_p.E786fs|ZMYND8_uc002xsy.1_Frame_Shift_Del_p.E1009fs|ZMYND8_uc002xsz.1_Frame_Shift_Del_p.E971fs|ZMYND8_uc002xta.1_Frame_Shift_Del_p.E1080fs|ZMYND8_uc002xtb.1_Frame_Shift_Del_p.E1054fs|ZMYND8_uc002xss.2_Frame_Shift_Del_p.E1080fs|ZMYND8_uc010zxz.1_Frame_Shift_Del_p.E948fs|ZMYND8_uc002xtc.1_Frame_Shift_Del_p.E1054fs|ZMYND8_uc002xtd.1_Frame_Shift_Del_p.E1029fs|ZMYND8_uc002xte.1_Frame_Shift_Del_p.E1034fs|ZMYND8_uc010zya.1_Frame_Shift_Del_p.E1080fs|ZMYND8_uc002xtf.1_Frame_Shift_Del_p.E1100fs|ZMYND8_uc002xsr.1_Frame_Shift_Del_p.E179fs	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	1080							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATTTAGTGTTTCTGTGTTCACC	0.515													---	59	---	---	16	---					
CLTCL1	8218	broad.mit.edu	37	22	19175500	19175502	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A3JI-06A-11D-A21A-08	TCGA-EE-A3JI-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dd0718d-5ddf-4c59-8c47-0f51303daeb5	0edf2345-54a0-4961-a497-b6f9837519aa	g.chr22:19175500_19175502delTCC	uc021wle.1	-	27	4500_4502	c.4425_4427delGGA	c.(4423-4428)gaggac>gac	p.E1475del	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_In_Frame_Del_p.E1475del|CLTCL1_uc011agw.1_In_Frame_Del_p.E1454del|CLTCL1_uc011agt.2_In_Frame_Del_p.E266del|CLTCL1_uc011agu.2_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1475	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CACCTGATAGTCCTCCTCCTCTG	0.591			T	?	ALCL								---	527	---	---	22	---