Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF609	23060	broad.mit.edu	37	15	64966267	64966267	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr15:64966267C>G	uc002ann.3	+	3	1214	c.1214C>G	c.(1213-1215)gCc>gGc	p.A405G		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	405						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						CGGGCAGGAGCCAATAGCAAA	0.567000													67	104					0	0	1	0	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007647	32007647	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr21:32007647A>G	uc011adg.2	+	0	65	c.65A>G	c.(64-66)tAt>tGt	p.Y22C		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	22						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCGGTGGCTATGGCTGTGGC	0.562000													62	64					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1637326	1637326	+	Silent	SNP	C	C	T	rs143987787		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:1637326C>T	uc002ftj.2	+	6	5124	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	WDR81_uc002fth.2_Silent_p.S614S|WDR81_uc010vqp.1_Silent_p.S462S|WDR81_uc002fti.2_Silent_p.S438S|WDR81_uc010vqq.1_Silent_p.S296S	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	438										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTTCCTGAGCGGCAGCAAGG	0.657000													44	67					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120468319	120468319	+	Missense_Mutation	SNP	A	A	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:120468319A>T	uc001eik.3	-	24	4417	c.4120T>A	c.(4120-4122)Tgc>Agc	p.C1374S		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1374	EGF-like 35.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGACTCGCAGTCCCGGGGA	0.642000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				22	18					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5586352	5586352	+	Missense_Mutation	SNP	G	G	A	rs139610006		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:5586352G>A	uc003gij.3	-	16	3109	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	EVC2_uc003gik.3_Missense_Mutation_p.R939W|EVC2_uc011bwb.2_Missense_Mutation_p.R459W	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	1019						integral to membrane		p.S1018S(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCACTCACCCGGCTGTGCGAC	0.602000													11	10					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39140572	39140572	+	Missense_Mutation	SNP	A	A	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:39140572A>C	uc004abi.3	-	11	2059	c.1820T>G	c.(1819-1821)aTt>aGt	p.I607S	CNTNAP3_uc004abj.3_Missense_Mutation_p.I607S|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.I607S|CNTNAP3_uc011lqs.1_Missense_Mutation_p.I514S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	607	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATCTGCATCAATATAGTAAAG	0.453000													38	40					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14077272	14077272	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:14077272T>C	uc002mxv.3	-	13	2194	c.1922A>G	c.(1921-1923)tAc>tGc	p.Y641C		NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	641					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)			GCTGAGGTTGTACCTCCAGAA	0.642000													22	25					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr20:29614328G>A	uc010ztk.1	+	1	67	c.-6_splice	c.e1+1		FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													3	33					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51892645	51892645	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:51892645A>G	uc003pah.1	-	30	3886	c.3610T>C	c.(3610-3612)Tgc>Cgc	p.C1204R	PKHD1_uc003pai.3_Missense_Mutation_p.C1204R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1204	IPT/TIG 7.		C -> Y.		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)					GACCCACAGCAAGGCTCGATG	0.413000													30	52					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65403262	65403262	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:65403262G>A	uc001oey.2	+	31	5447	c.5447G>A	c.(5446-5448)cGc>cAc	p.R1816H	PCNXL3_uc001oez.2_Missense_Mutation_p.R703H|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1816						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGCTCCTGCGCACCTGGGAG	0.687000													7	7					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217915355	217915355	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:217915355A>G	uc001hlh.1	+	5	460	c.434A>G	c.(433-435)gAa>gGa	p.E145G	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	145						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAAGAAAGAGAAGAGAAGAAG	0.403000													32	28					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768259	38768259	+	Silent	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr3:38768259T>C	uc003ciq.3	-	15	2925	c.2925A>G	c.(2923-2925)caA>caG	p.Q975Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	975					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)	CTCTGGGAGCTTGGAGCCCTC	0.577000													27	34					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5257698	5257698	+	Silent	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:5257698A>G	uc002gbm.4	+	7	1232	c.1008A>G	c.(1006-1008)aaA>aaG	p.K336K	RABEP1_uc010clc.1_Silent_p.K329K|RABEP1_uc010cld.1_Silent_p.K293K|RABEP1_uc010vsw.1_Silent_p.K293K|RABEP1_uc002gbl.4_Silent_p.K336K	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	336					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGGATCACAAAAAAGCAGATG	0.338000													25	24					0	0	1	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488000													4	48					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48145730	48145730	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:48145730C>T	uc002efc.1	-	13	2427	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	694	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTTGCATAGCGCCCTCTCTC	0.463000													33	65					0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31379973	31379973	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:31379973G>A	uc003ntk.1	+	3	902	c.863G>A	c.(862-864)gGg>gAg	p.G288E	MICA_uc003rxz.1_Missense_Mutation_p.G150E|MICA_uc021yun.1_Missense_Mutation_p.G191E|MICA_uc021yuo.1_Missense_Mutation_p.G191E	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	288	Ig-like C1-type.				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GAACACAGCGGGAATCACAGC	0.612000													3	46					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41059590	41059590	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:41059590G>A	uc002icb.1	+	2	470	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	G6PC_uc010whf.1_Intron	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	131					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTACGTGATGGTCACATCTAC	0.517000													21	45					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19093264	19093264	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093264G>C	uc003znk.3	-	3	594	c.341C>G	c.(340-342)tCa>tGa	p.S114*	HAUS6_uc022bdv.1_5'UTR|HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	114					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGAAATAGTGAACCAACAAC	0.313000													6	31					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189933563	189933563	+	Silent	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:189933563C>T	uc002uqk.3	-	18	1481	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	402					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACCTCTCTGCCCCTGAGGAC	0.502000													17	26					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19475547	19475547	+	Silent	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:19475547T>C	uc001reb.3	+	14	2193	c.2085T>C	c.(2083-2085)gaT>gaC	p.D695D	PLEKHA5_uc010sie.2_Silent_p.D798D|PLEKHA5_uc001rea.3_Silent_p.D753D|PLEKHA5_uc009zin.3_Silent_p.D453D|PLEKHA5_uc010sig.2_Silent_p.D614D|PLEKHA5_uc010sih.1_Silent_p.D587D|PLEKHA5_uc021qvy.1_Silent_p.D626D|PLEKHA5_uc001rec.1_Silent_p.D441D|PLEKHA5_uc009zio.3_Silent_p.D17D	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	695							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TACAAAGGGATGATTTACAAA	0.408000													56	56					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49227649	49227649	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:49227649C>T	uc002pki.3	-	9	2686	c.2489G>A	c.(2488-2490)cGg>cAg	p.R830Q	RASIP1_uc002pkh.3_Missense_Mutation_p.R91Q	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	830	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)		GGAGAGTTTCCGGAAGAACTC	0.572000													53	66					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71135022	71135022	+	Missense_Mutation	SNP	G	G	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:71135022G>C	uc003tvy.3	+	7	1332	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N	WBSCR17_uc003tvz.3_Missense_Mutation_p.K143N	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	444						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAAAGTGTAAGAATTTCCAGT	0.438000													67	110					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr20:42788430C>T	uc002xli.1	-	1	1870	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	333					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662000													37	26					0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23491094	23491094	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:23491094G>T	uc002dlq.3	-	10	1204	c.1121C>A	c.(1120-1122)gCa>gAa	p.A374E	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	374	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ACCCAAGGCTGCCAGGTCCTG	0.612000													11	73					0.000566183	0.000576866	1	1	0
GRPR	2925	broad.mit.edu	37	X	16170454	16170454	+	Missense_Mutation	SNP	C	C	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:16170454C>A	uc004cxj.3	+	2	1494	c.841C>A	c.(841-843)Cat>Aat	p.H281N		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	281					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GCTCCCCAATCATGTCATCTA	0.547000													149	19					4.26566e-80	4.79887e-80	1	1	0
OR9G9	390174	broad.mit.edu	37	11	56468238	56468238	+	Silent	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:56468238C>T	uc010rjn.2	+	0	375	c.375C>T	c.(373-375)atC>atT	p.I125I	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I125I(1)									ACGTGGCCATCTCCAAGCCCC	0.522000													6	149					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		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.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		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)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								54	52					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316257	125316257	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:125316257G>T	uc011lyx.2	+	0	809	c.809G>T	c.(808-810)gGg>gTg	p.G270V		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473000													49	49					4.25531e-23	4.68953e-23	1	1	0
HEATR7B2	133558	broad.mit.edu	37	5	41070936	41070936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr5:41070936C>A	uc003jmj.4	-	0	509	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	HEATR7B2_uc021xxt.1_Nonsense_Mutation_p.E7*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	7							binding	p.E7*(2)		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						CCTATGGATTCCTCTGTACTA	0.423000													7	9					0.00307968	0.00307968	1	1	0
ANXA2	302	broad.mit.edu	37	9	33625260	33625260	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:33625260C>T	uc010mjx.3	+	0	1038	c.989C>T	c.(988-990)gCg>gTg	p.A330V	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank|DJ439530_uc022bfr.1_5'Flank|DJ439561_uc022bfs.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	330					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TACCAGAAAGCGCTGCTGTAC	0.488000													32	14					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974943	32974943	+	Silent	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:32974943A>G	uc003ocr.3	-	3	739	c.663T>C	c.(661-663)tgT>tgC	p.C221C	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	221					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	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCCAGGGCACAGACCAGGG	0.577000													43	71					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039522	248039522	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248039522C>T	uc001ido.3	+	5	1240	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	398	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTTGCCTCCCCATCAGTGCC	0.512000													24	165					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38320314	38320314	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:38320314G>T	uc010cwt.1	+	6	1661	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y	CASC3_uc010cws.1_Missense_Mutation_p.D456Y|CASC3_uc002hue.3_Missense_Mutation_p.D456Y	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	456	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCTCCGGTGGATTCTAGTAC	0.542000													29	34					9.17885e-22	9.91316e-22	1	1	0
FANCB	2187	broad.mit.edu	37	X	14863149	14863149	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:14863149G>A	uc004cwg.1	-	7	2024	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	FANCB_uc004cwh.1_Missense_Mutation_p.P586S	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	586					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GTTAAAAGTGGTGAAAGAGAT	0.388000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				78	13					0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42293731	42293731	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr13:42293731T>C	uc001uyj.3	-	25	3182	c.3112A>G	c.(3112-3114)Aag>Gag	p.K1038E	KIAA0564_uc001uyk.3_Missense_Mutation_p.K1038E	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1038						extracellular region	ATP binding|ATPase activity	p.K1038K(1)		endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CCTTACTCCTTTGCCAGCTGC	0.373000													57	60					0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	99030425	99030425	+	Missense_Mutation	SNP	C	C	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:99030425C>A	uc003htt.2	-	3	509	c.419G>T	c.(418-420)gGt>gTt	p.G140V		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	140										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		AAAATGTATACCTTTGTATTT	0.313000													30	42					6.00712e-18	6.36048e-18	1	1	0
SFT2D2	375035	broad.mit.edu	37	1	168205989	168205989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:168205989C>T	uc001gfi.4	+	5	457	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	TBX19_uc001gfj.4_Intron	NM_199344	NP_955376	O95562	SFT2B_HUMAN	Homo sapiens SFT2 domain containing 2 (SFT2D2), mRNA.	132					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					CTGCATTTTGCAGTCTTTGGC	0.403000													112	148					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661149	227661149	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:227661149C>T	uc021vxn.1	-	0	2306	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K	IRS1_uc002voh.4_Missense_Mutation_p.R769K	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	769					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTTAAAGGATCTTGGCAATGA	0.627000													142	173					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24151678	24151678	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr8:24151678C>G	uc003xdy.3	+	0	99	c.16C>G	c.(16-18)Ctg>Gtg	p.L6V	ADAM28_uc003xdx.3_Missense_Mutation_p.L6V|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	6					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAAGGTCTCCTGCCAGTCAG	0.498000													75	80					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113275228	113275228	+	Silent	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:113275228G>A	uc010mtz.3	-	4	1618	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SVEP1_uc010mua.1_Silent_p.S427S|SVEP1_uc004beu.2_Silent_p.S427S|SVEP1_uc004bev.3_Silent_p.S171S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	427	Sushi 1.				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						TCTCTGAACCGGACCACAAAC	0.443000													31	54					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202456	248202456	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248202456T>C	uc001idw.3	+	0	983	c.887T>C	c.(886-888)gTg>gCg	p.V296A	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AACAAGGAGGTGATGGGGGCC	0.463000													60	73					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19093229	19093229	+	Missense_Mutation	SNP	G	G	A	rs151253216		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093229G>A	uc003znk.3	-	3	629	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	HAUS6_uc022bdv.1_5'UTR|HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	126					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle		p.H126Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACATCAGATGAATAAACTTA	0.294000													4	26					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74316388	74316388	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:74316388C>T	uc003hgz.1	+	10	1393	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	AFP_uc011cbg.1_Missense_Mutation_p.A223V	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	449	Albumin 3.				transport		metal ion binding	p.M448I(1)		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)			GAGCTGATGGCCATCACCAGA	0.507000									Alpha-Fetoprotein, Hereditary Persistence of				37	40					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186292829	186292829	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:186292829G>A	uc001grv.3	-	42	6583	c.6286C>T	c.(6286-6288)Cca>Tca	p.P2096S	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2096					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAACTGGTGGTCCCAACTCC	0.463000			T	NTRK1	papillary thyroid								80	133					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018108	1018108	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:1018108G>A	uc003gce.3	+	5	889	c.728G>A	c.(727-729)cGt>cAt	p.R243H	FGFRL1_uc003gcf.3_Missense_Mutation_p.R243H|FGFRL1_uc003gcg.3_Missense_Mutation_p.R243H|FGFRL1_uc010ibo.3_Missense_Mutation_p.R243H	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	243					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.R243L(4)|p.R213L(2)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCGGACCCGTTCCAAGCCC	0.711000													36	46					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538609	63538609	+	Silent	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:63538609A>G	uc011kdm.2	+	3	1361	c.1182A>G	c.(1180-1182)aaA>aaG	p.K394K		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CTGGAGAGAAACCCTACAAAT	0.373000													4	29					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659212A>G	uc003bkb.1	-	15	4088	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_uc003bka.1_Silent_p.S279S|TUBGCP6_uc010har.1_Silent_p.S1184S|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617000													6	128					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			23	4					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:6727803_6727804delTC	uc001aof.2	-	3	449_450	c.343_344delGA	c.(343-345)gaafs	p.E115fs	DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	115					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													11	89	---	---	---	---					
TWISTNB	221830	broad.mit.edu	37	7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:19738111_19738113delTTC	uc003sup.1	-	3	864_866	c.843_845delGAA	c.(841-846)aagaaa>aaa	p.281_282KK>K		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	281	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433													7	504	---	---	---	---					
AMBRA1	55626	broad.mit.edu	37	11	46456428	46456429	+	Frame_Shift_Ins	INS	-	-	GGTTATGGGG			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:46456428_46456429insGGTTATGGGG	uc001ncv.2	-	14	3114_3115	c.2800_2801insCCCCATAACC	c.(2800-2802)ctgfs	p.L934fs	AMBRA1_uc010rgt.1_Frame_Shift_Ins_p.L497fs|AMBRA1_uc009ylc.1_Frame_Shift_Ins_p.L902fs|AMBRA1_uc001ncu.1_Frame_Shift_Ins_p.L841fs|AMBRA1_uc010rgu.1_Frame_Shift_Ins_p.L931fs|AMBRA1_uc001ncw.2_Frame_Shift_Ins_p.L812fs|AMBRA1_uc001ncx.2_Frame_Shift_Ins_p.L871fs	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	931					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATTTCGCCCAGGTTATGGGGG	0.569													8	14	---	---	---	---					
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-	rs142692092	by1000genomes	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	uc001say.3	-	0	462_479	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	132	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633													4	4	---	---	---	---					
DIO3OS	64150	broad.mit.edu	37	14	102023903	102023905	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr14:102023903_102023905delGAG	uc001yke.3	-	2	606_608	c.193_195delCTC	c.(193-195)ctcdel	p.L65del	DIO3AS_uc001ykb.1_5'Flank|DIO3AS_uc001ykd.1_Intron|DIO3AS_uc001ykf.3_3'UTR|DIO3AS_uc001ykg.3_3'UTR|DIO3AS_uc001ykh.3_Intron					SubName: Full=Uterine-derived 14 kDa protein;																		GAGGGCAGCAGAGGAGGAGGAGG	0.616													2	4	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195603_28195605delTGC	uc003adj.3	-	0	1882_1884	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	309							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAACACACCAtgctgctgctgct	0.640			T	ETV6	"""AML, meningioma"""								2	4	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28195625	28195627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195625_28195627delGCT	uc003adj.3	-	0	1860_1862	c.905_907delAGC	c.(904-909)cagccc>ccc	p.Q302del		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	302	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						tgctgctggggctgctgctgctg	0.660			T	ETV6	"""AML, meningioma"""								2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:76937611_76937615delCTTTT	uc004ecp.4	-	8	3365_3369	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.K1045fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1007fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K830fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K977fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K1016fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K990fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1045					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)	TATTTTTTTACTTTTCTTTTCTCCA	0.337			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						35	19	---	---	---	---					
