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	ENST00000326648.3	+	4	1342	c.1214C>G	c.(1213-1215)gCc>gGc	p.A405G	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	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	ENST00000330798.2	+	1	93	c.65A>G	c.(64-66)tAt>tGt	p.Y22C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	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	ENST00000409644.1	+	7	4995	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	WDR81_ENST00000545662.1_Silent_p.S296S|WDR81_ENST00000446363.1_Silent_p.S304S|WDR81_ENST00000437219.2_Silent_p.S462S|WDR81_ENST00000419248.1_Silent_p.S438S|WDR81_ENST00000309182.5_Silent_p.S614S|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	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	ENST00000256646.2	-	25	4339	c.4120T>A	c.(4120-4122)Tgc>Agc	p.C1374S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1374	EGF-like 35.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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	ENST00000310917.2	-	17	3546	c.2815C>T	c.(2815-2817)Cgg>Tgg	p.R939W	EVC2_ENST00000344938.1_Missense_Mutation_p.R1019W|EVC2_ENST00000344408.5_Missense_Mutation_p.R1019W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1019						integral to membrane				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	ENST00000297668.6	-	12	1893	c.1820T>G	c.(1819-1821)aTt>aGt	p.I607S	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I519S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I607S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I514S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I607S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	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	ENST00000254325.4	-	14	2156	c.1922A>G	c.(1921-1923)tAc>tGc	p.Y641C		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	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
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	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.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343000													3	60					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	ENST00000371117.3	-	31	3885	c.3610T>C	c.(3610-3612)Tgc>Cgc	p.C1204R	PKHD1_ENST00000340994.4_Missense_Mutation_p.C1204R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	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	ENST00000355703.3	+	32	5986	c.5447G>A	c.(5446-5448)cGc>cAc	p.R1816H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	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
CYP27B1	1594	broad.mit.edu	37	12	58158993	58158993	+	Splice_Site	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.chr12:58158993G>T	ENST00000228606.4	-	4	800	c.589_splice	c.e4-1	p.G197_splice	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	197					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.G197G(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCGCGGCGATGCCTTGTCGGG	0.687000											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	59					0.000274275	0.000282982	1	1	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	ENST00000366933.4	+	6	489	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	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	ENST00000449082.2	-	16	2924	c.2925A>G	c.(2923-2925)caA>caG	p.Q975Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	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	ENST00000262477.6	+	8	1232	c.1008A>G	c.(1006-1008)aaA>aaG	p.K336K	RABEP1_ENST00000546142.2_Silent_p.K336K|RABEP1_ENST00000537505.1_Silent_p.K293K|RABEP1_ENST00000408982.2_Silent_p.K336K|RABEP1_ENST00000341923.6_Silent_p.K336K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	336					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator 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
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	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.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													5	123					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	ENST00000311303.3	-	14	2426	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	ABCC12_ENST00000448542.1_Missense_Mutation_p.R694H|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	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	ENST00000449934.2	+	4	917	c.863G>A	c.(862-864)gGg>gAg	p.G288E	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	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	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	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	ENST00000253801.2	+	3	470	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	G6PC_ENST00000585489.1_Missense_Mutation_p.V131I|G6PC_ENST00000592383.1_Intron	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	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	ENST00000380502.3	-	4	808	c.341C>G	c.(340-342)tCa>tGa	p.S114*		NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	114					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						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	ENST00000374866.3	-	19	1480	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	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	ENST00000538714.1	+	17	2263	c.2259T>C	c.(2257-2259)gaT>gaC	p.D753D	PLEKHA5_ENST00000539256.1_Silent_p.D453D|PLEKHA5_ENST00000543806.1_Silent_p.D614D|PLEKHA5_ENST00000317589.4_Silent_p.D695D|PLEKHA5_ENST00000359180.3_Silent_p.D695D|PLEKHA5_ENST00000429027.2_Silent_p.D798D|PLEKHA5_ENST00000355397.3_Silent_p.D753D|PLEKHA5_ENST00000299275.6_Silent_p.D695D|PLEKHA5_ENST00000424268.1_Silent_p.D626D	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	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	ENST00000222145.4	-	10	2693	c.2489G>A	c.(2488-2490)cGg>cAg	p.R830Q		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	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	ENST00000333538.5	+	8	1966	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	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	ENST00000372980.3	-	2	1869	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	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	ENST00000309859.4	-	11	1203	c.1121C>A	c.(1120-1122)gCa>gAa	p.A374E	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	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	0.00057503	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	ENST00000380289.2	+	3	1239	c.841C>A	c.(841-843)Cat>Aat	p.H281N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	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	4.78048e-80	1	1	0
OR9G1	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	ENST00000312153.1	+	1	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.I125I(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						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	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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	ENST00000373688.2	+	1	867	c.809G>T	c.(808-810)gGg>gTg	p.G270V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	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	4.68806e-23	1	1	0
SLC6A2	6530	broad.mit.edu	37	16	55734096	55734096	+	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.chr16:55734096G>A	ENST00000379906.2	+	12	1891	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	SLC6A2_ENST00000561820.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D546N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D441N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D501N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	546					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACTCACCTACGACGACTACAT	0.547000													5	138					0	0	1	0	0
MROH2B	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	ENST00000399564.4	-	1	469	c.19G>T	c.(19-21)Gaa>Taa	p.E7*		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.E7*(1)									CCTATGGATTCCTCTGTACTA	0.423000													7	9					0.00307968	0.00307968	1	1	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	ENST00000229829.5	-	4	738	c.663T>C	c.(661-663)tgT>tgC	p.C221C	HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	221					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						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	ENST00000366481.3	+	6	1240	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	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	ENST00000264645.7	+	7	1592	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	456	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA 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	9.94375e-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	ENST00000398334.1	-	8	2023	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	FANCB_ENST00000324138.3_Missense_Mutation_p.P586S	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	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
VWA8	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	ENST00000379310.3	-	26	3180	c.3112A>G	c.(3112-3114)Aag>Gag	p.K1038E	VWA8_ENST00000281496.6_Missense_Mutation_p.K1038E	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CCTTACTCCTTTGCCAGCTGC	0.373000													57	60					0	0	1	0	0
STPG2	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	ENST00000295268.3	-	4	508	c.419G>T	c.(418-420)gGt>gTt	p.G140V		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		AAAATGTATACCTTTGTATTT	0.313000													30	42					6.00712e-18	6.40103e-18	1	1	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	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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
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	ENST00000271375.3	+	6	466	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Silent_p.C104C|SFT2D2_ENST00000367825.3_Silent_p.C104C	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2	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	ENST00000305123.4	-	1	3326	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	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	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain 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	ENST00000265769.4	+	1	126	c.16C>G	c.(16-18)Ctg>Gtg	p.L6V	ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.L6V|ADAM28_ENST00000397649.3_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	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	ENST00000401783.2	-	5	1617	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.S404S|SVEP1_ENST00000374461.1_Silent_p.S404S|SVEP1_ENST00000302728.8_Silent_p.S427S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	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	ENST00000366479.2	+	1	983	c.887T>C	c.(886-888)gTg>gCg	p.V296A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	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	ENST00000380502.3	-	4	843	c.376C>T	c.(376-378)Cat>Tat	p.H126Y		NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	126					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.H126Y(1)		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	ENST00000395792.2	+	11	1446	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	AFP_ENST00000226359.2_Missense_Mutation_p.A449V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	449	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)			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	ENST00000367478.3	-	43	6582	c.6286C>T	c.(6286-6288)Cca>Tca	p.P2096S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2096					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAACTGGTGGTCCCAACTCC	0.463000			T	NTRK1	papillary thyroid								80	133					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120282	38120282	+	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.chr22:38120282C>T	ENST00000406386.3	+	7	1974	c.1719C>T	c.(1717-1719)gaC>gaT	p.D573D	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGACAACCCCAGAA	0.587000													4	134					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	ENST00000398484.2	+	7	1308	c.728G>A	c.(727-729)cGt>cAt	p.R243H	FGFRL1_ENST00000264748.6_Missense_Mutation_p.R243H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R243H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R243H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	243					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.R213L(2)|p.R243L(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	ENST00000550760.3	+	4	1361	c.1182A>G	c.(1180-1182)aaA>aaG	p.K394K		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	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
HPSE2	60495	broad.mit.edu	37	10	100401630	100401630	+	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.chr10:100401630A>G	ENST00000370552.3	-	7	1131	c.1072T>C	c.(1072-1074)Tct>Cct	p.S358P	HPSE2_ENST00000370546.1_Missense_Mutation_p.S358P|HPSE2_ENST00000370549.1_Missense_Mutation_p.S300P|HPSE2_ENST00000404542.1_Missense_Mutation_p.S246P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	358					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATCTGGTCAGAGAGTGTGTCT	0.413000													6	228					0	0	1	0	0
FRG1B	0	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	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													3	33					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958983	53958983	+	RNA	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.chr19:53958983A>C	ENST00000454407.1	+	0	1675							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TACTGGAGAGAAACCTTACAA	0.368000													4	229					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	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	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
ZNF721	170960	broad.mit.edu	37	4	436563	436563	+	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.chr4:436563T>C	ENST00000338977.5	-	2	1705	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	ZNF721_ENST00000511833.2_Missense_Mutation_p.T565A|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTCTAAAGGTTTTGCCACAT	0.418000													6	143					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs143925165	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.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403000													4	126					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659166	50659166	+	Missense_Mutation	SNP	T	T	C	rs145066767		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.chr22:50659166T>C	ENST00000439308.2	-	16	4114	c.3622A>G	c.(3622-3624)Acc>Gcc	p.T1208A	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1208	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)		CGTGGCCGGGTGGGAGCCATG	0.622000													4	119					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	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)afs	p.E116fs	DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116					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	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aaa>aa	p.KK281del		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	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	ENST00000458649.2	-	13	3209_3210	c.2791_2792insCCCCATAACC	c.(2791-2793)gggfs	p.G931fs	AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.G902fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.G812fs|AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.G841fs|AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.G902fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.G871fs|AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.G871fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	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	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggt>gg	p.GGAGGFG132del	KRT3_ENST00000309505.3_In_Frame_Del_p.GGAGGFG132del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	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	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	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.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													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	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cat>ca	p.QH309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	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	ENST00000302326.4	-	1	1859_1861	c.905_907delAGC	c.(904-909)ccc>c	p.QP302del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	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	ENST00000373344.5	-	9	3347_3351	c.3133_3137delAAAAG	c.(3133-3138)tfs	p.KS1045fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1045					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|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	---	---	---	---