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
CYP51A1	1595	broad.mit.edu	37	7	91758200	91758200	+	Silent	SNP	A	A	G			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:91758200A>G	ENST00000003100.8	-	3	627	c.462T>C	c.(460-462)ccT>ccC	p.P154P	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Silent_p.P49P	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	148					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTACTGGATTAGGCACATCGT	0.373000													3	184					0	0	0.115264	0	0
KMT2E	55904	broad.mit.edu	37	7	104752281	104752281	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:104752281C>T	ENST00000334877.4	+	26	4486	c.3952C>T	c.(3952-3954)Cct>Tct	p.P1318S	KMT2E_ENST00000257745.4_Missense_Mutation_p.P1360S|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.P1360S|KMT2E_ENST00000334914.7_Missense_Mutation_p.P415S					lysine (K)-specific methyltransferase 2E																		GCCTGGTTCACCTGGATCTGT	0.378000													13	40					0	0	0.132662	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs114234640	byFrequency	TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr6:32725567C>T	ENST00000435145.2	-	4	801	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000													3	12					0	0	0.115264	0	0
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				21	77					0	0	0.091800	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685020	75685020	+	Silent	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:75685020C>T	ENST00000370855.5	-	16	1301	c.1188G>A	c.(1186-1188)gcG>gcA	p.A396A	SLC44A5_ENST00000535611.1_Silent_p.A266A|SLC44A5_ENST00000370859.3_Silent_p.A396A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	396						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A396A(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCCCGATGTCGCCAAGAAAC	0.393000													6	33					0	0	0.021553	0	0
PFN2	5217	broad.mit.edu	37	3	149684321	149684321	+	Silent	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr3:149684321C>T	ENST00000239940.7	-	3	630	c.378G>A	c.(376-378)aaG>aaA	p.K126K	PFN2_ENST00000475518.1_Silent_p.K77K|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000481275.1_Silent_p.K77K|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000498307.1_Silent_p.K77K|PFN2_ENST00000497148.1_Silent_p.K77K|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000490975.1_Silent_p.K111K|PFN2_ENST00000489155.1_Silent_p.K77K			P35080	PROF2_HUMAN	profilin 2	126					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTATGCCTTCTTATTCAATC	0.393000													13	729					0	0	0.043863	0	0
RASL10B	91608	broad.mit.edu	37	17	34067531	34067531	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr17:34067531G>A	ENST00000268864.3	+	3	697	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	107	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGACCATCCGCCAGCAGATC	0.577000													21	43					0	0	0.049695	0	0
PTPRJ	5795	broad.mit.edu	37	11	48145371	48145371	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr11:48145371C>G	ENST00000418331.2	+	5	1175	c.823C>G	c.(823-825)Cta>Gta	p.L275V	PTPRJ_ENST00000440289.2_Missense_Mutation_p.L275V	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	275	Fibronectin type-III 2.|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCGTATCTTCTACAATCAAA	0.473000													24	63					0	0	0.083992	0	0
TRDN	10345	broad.mit.edu	37	6	123869615	123869615	+	Silent	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr6:123869615G>A	ENST00000334268.4	-	3	692	c.375C>T	c.(373-375)gaC>gaT	p.D125D	TRDN_ENST00000542443.1_Silent_p.D125D|TRDN_ENST00000398178.3_Silent_p.D125D|TRDN_ENST00000546248.1_Silent_p.D125D			Q13061	TRDN_HUMAN	triadin	125					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CAGTATCTTCGTCACCATCAT	0.363000													4	13					0	0	0.014758	0	0
LAPTM5	7805	broad.mit.edu	37	1	31212769	31212769	+	Silent	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:31212769G>A	ENST00000294507.3	-	4	348	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	92					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGGCAGCAGGTACTTCTCC	0.592000													9	17					0	0	0.047766	0	0
CTDSP2	10106	broad.mit.edu	37	12	58217826	58217826	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr12:58217826C>T	ENST00000398073.2	-	7	854	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	CTDSP2_ENST00000547701.1_Missense_Mutation_p.R32Q|CTDSP2_ENST00000548823.1_Intron	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	184	FCP1 homology.				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TAGGCGGGCCCGGAACACCCC	0.587000													4	28					0	0	0.014758	0	0
BCAR3	8412	broad.mit.edu	37	1	94140372	94140372	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:94140372G>A	ENST00000370244.1	-	4	403	c.115C>T	c.(115-117)Cca>Tca	p.P39S	BCAR3_ENST00000370243.1_Missense_Mutation_p.P39S|BCAR3_ENST00000260502.6_Missense_Mutation_p.P39S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	39					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TAGGCATCTGGGCGATGCTCA	0.537000													9	49					0	0	0.047766	0	0
NOTCH3	4854	broad.mit.edu	37	19	15298078	15298078	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr19:15298078C>T	ENST00000263388.2	-	11	1753	c.1678G>A	c.(1678-1680)Gtg>Atg	p.V560M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	560	EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATGCCATCCACGCAGCGACCA	0.662000													10	36					0	0	0.080935	0	0
ERC1	23085	broad.mit.edu	37	12	1553834	1553834	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr12:1553834G>A	ENST00000397203.2	+	18	3537	c.3131G>A	c.(3130-3132)gGa>gAa	p.G1044E	ERC1_ENST00000546231.2_Missense_Mutation_p.G1048E|ERC1_ENST00000355446.5_Missense_Mutation_p.G1044E|ERC1_ENST00000543086.3_Missense_Mutation_p.G1016E|ERC1_ENST00000589028.1_Missense_Mutation_p.G1044E|ERC1_ENST00000360905.4_Missense_Mutation_p.G1044E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1044					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATCCTCCGTGGACTCACTCCA	0.522000													29	95					0	0	0.144211	0	0
SCN7A	6332	broad.mit.edu	37	2	167273486	167273486	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:167273486T>C	ENST00000409855.1	-	20	3271	c.3145A>G	c.(3145-3147)Aga>Gga	p.R1049G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1049					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATCAAAGCTCTCACAACCACC	0.323000													4	15					0	0	0.150653	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890213	31890213	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr20:31890213G>A	ENST00000253354.1	+	10	1137	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	326						extracellular space	lipid binding										GCTGATCAATGAAAAGGTTGG	0.547000													12	58					0	0	0.119110	0	0
SALL1	6299	broad.mit.edu	37	16	51175655	51175655	+	Missense_Mutation	SNP	C	C	T	rs113614842		TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr16:51175655C>T	ENST00000440970.1	-	2	618	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G160S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	160					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgccgctgctgctg	0.632000													3	23					0	0	0.115264	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457726	66457726	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr11:66457726C>T	ENST00000533211.1	-	28	5925	c.5594G>A	c.(5593-5595)cGg>cAg	p.R1865Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1865Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1865Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1865					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTTCTGGAGCCGGTGGCCGTC	0.701000													5	10					0	0	0.014758	0	0
NID1	4811	broad.mit.edu	37	1	236195924	236195924	+	Silent	SNP	C	C	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:236195924C>A	ENST00000264187.6	-	6	1396	c.1314G>T	c.(1312-1314)gtG>gtT	p.V438V	NID1_ENST00000366595.3_Silent_p.V438V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	438	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCCTTCCTTTCACCTTGCCAT	0.478000													9	40					1.12685e-05	1.22075e-05	0.047766	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													6	70					0	0	0.069234	0	0
FNDC7	163479	broad.mit.edu	37	1	109271297	109271297	+	Silent	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:109271297C>T	ENST00000370017.3	+	8	1690	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	FNDC7_ENST00000271311.2_Silent_p.F472F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	472	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GGGATGCATTCTCCATGATTA	0.428000													14	59					0	0	0.105934	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136312	92136312	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr14:92136312C>T	ENST00000256343.3	-	14	1289	c.1133G>A	c.(1132-1134)aGg>aAg	p.R378K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	378					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGCAGTTTTCCTGACCTAGGT	0.358000													21	42					0	0	0.069288	0	0
LFNG	3955	broad.mit.edu	37	7	2565945	2565945	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:2565945G>A	ENST00000222725.5	+	6	909	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	LFNG_ENST00000402506.1_Missense_Mutation_p.V226M|LFNG_ENST00000402045.1_Missense_Mutation_p.V168M|LFNG_ENST00000338732.3_Missense_Mutation_p.V168M|LFNG_ENST00000359574.3_Missense_Mutation_p.V297M	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	297					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CGGCTACATCGTGGAGGCCCT	0.657000													20	65					0	0	0.062417	0	0
FAM53B	9679	broad.mit.edu	37	10	126312097	126312097	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr10:126312097C>T	ENST00000337318.3	-	5	1194	c.983G>A	c.(982-984)cGc>cAc	p.R328H	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.R328H	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	328										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCTGACGTGGCGGGCGAAGGG	0.697000													7	5					0	0	0.038147	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241452	60241452	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr18:60241452A>C	ENST00000269499.5	+	13	2556	c.2138A>C	c.(2137-2139)tAt>tCt	p.Y713S	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.Y392S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	713					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCACCCAAGTATCAGCATATT	0.443000													46	178					0	0	0.139131	0	0
HEATR1	55127	broad.mit.edu	37	1	236766584	236766584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:236766584G>A	ENST00000366582.3	-	3	349	c.235C>T	c.(235-237)Cga>Tga	p.R79*	HEATR1_ENST00000366579.1_Nonsense_Mutation_p.R79*|HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R79*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	79					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGAACACTTCGCTCCAAGGTT	0.418000													11	64					0	0	0.069234	0	0
CCDC113	29070	broad.mit.edu	37	16	58287951	58287951	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr16:58287951T>C	ENST00000219299.4	+	3	357	c.278T>C	c.(277-279)gTa>gCa	p.V93A	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	93						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GACCGTGGGGTAGGCCTGACT	0.507000													6	75					0	0	0.029380	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189157	26189157	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr6:26189157G>A	ENST00000340756.2	-	1	147	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	50					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TCATAAATGAGGCCAGAAATA	0.542000													23	60					0	0	0.099896	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	38					0	0	0.150653	0	0
EXOC4	60412	broad.mit.edu	37	7	133689777	133689777	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:133689777A>G	ENST00000253861.4	+	16	2490	c.2461A>G	c.(2461-2463)Atc>Gtc	p.I821V	EXOC4_ENST00000541309.1_Missense_Mutation_p.I109V|EXOC4_ENST00000545148.1_Missense_Mutation_p.I431V|EXOC4_ENST00000539845.1_Missense_Mutation_p.I720V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	821					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CAACAAAGATATCAGCGCCAT	0.498000													3	133					0	0	0.115264	0	0
ABCA8	10351	broad.mit.edu	37	17	66898960	66898960	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr17:66898960T>C	ENST00000269080.2	-	19	2675	c.2538A>G	c.(2536-2538)atA>atG	p.I846M	ABCA8_ENST00000586539.1_Missense_Mutation_p.I886M|ABCA8_ENST00000430352.2_Missense_Mutation_p.I886M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	846						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGTTTTGATATATTTTCACCA	0.378000													15	62					0	0	0.119110	0	0
HOXB3	3213	broad.mit.edu	37	17	46629478	46629478	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr17:46629478C>T	ENST00000470495.1	-	1	1806	c.359G>A	c.(358-360)gGc>gAc	p.G120D	HOXB3_ENST00000498678.1_Missense_Mutation_p.G120D|HOXB3_ENST00000476342.1_Missense_Mutation_p.G120D|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.G120D|HOXB3_ENST00000472863.1_Missense_Mutation_p.G47D|HOXB3_ENST00000485909.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Missense_Mutation_p.G47D			P14651	HXB3_HUMAN	homeobox B3	120					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGAGTTGGTGCCGGGACCGCA	0.597000													5	338					0	0	0.029380	0	0
BRWD3	254065	broad.mit.edu	37	X	79979296	79979296	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chrX:79979296T>C	ENST00000373275.4	-	16	1817	c.1601A>G	c.(1600-1602)cAt>cGt	p.H534R		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	534										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAAATGTCCATGAGAATCTGT	0.378000													13	19					0	0	0.105934	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283603	40283603	+	Silent	SNP	G	G	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr22:40283603G>C	ENST00000325157.6	-	2	400	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	50	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TAATCTCTGAGAGAGAAATTG	0.423000													28	92					0	0	0.125774	0	0
SVIL	6840	broad.mit.edu	37	10	29801693	29801693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr10:29801693G>A	ENST00000375398.2	-	19	3936	c.3487C>T	c.(3487-3489)Cag>Tag	p.Q1163*	SVIL_ENST00000535393.1_Nonsense_Mutation_p.Q61*|SVIL_ENST00000355867.4_Nonsense_Mutation_p.Q1163*|SVIL_ENST00000375400.3_Nonsense_Mutation_p.Q737*			O95425	SVIL_HUMAN	supervillin	1163					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTGCTTCCTGGGTGTGCAGG	0.542000											OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	67					0	0	0.055883	0	0
CYP4A22	284541	broad.mit.edu	37	1	47609516	47609516	+	Missense_Mutation	SNP	G	G	A	rs143425502	byFrequency	TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:47609516G>A	ENST00000371891.3	+	6	749	c.718G>A	c.(718-720)Gac>Aac	p.D240N	CYP4A22_ENST00000371890.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D240N|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	240						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATGAGAATGACACCATCTA	0.537000													31	87					0	0	0.153744	0	0
NRP1	8829	broad.mit.edu	37	10	33474639	33474639	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr10:33474639C>T	ENST00000265371.4	-	16	2873	c.2348G>A	c.(2347-2349)gGc>gAc	p.G783D	NRP1_ENST00000374867.2_Missense_Mutation_p.G783D|NRP1_ENST00000395995.1_Missense_Mutation_p.G783D			O14786	NRP1_HUMAN	neuropilin 1	783	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCCGATTTCGCCCTCGAAAAT	0.403000													3	43					0	0	0.115264	0	0
DAPK3	1613	broad.mit.edu	37	19	3964913	3964913	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr19:3964913G>A	ENST00000545797.2	-	3	382	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	DAPK3_ENST00000301264.3_Missense_Mutation_p.R47C			O43293	DAPK3_HUMAN	death-associated protein kinase 3	47	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGGCGGCGCTTCTTGATG	0.647000													24	73					0	0	0.083992	0	0
ADCY1	107	broad.mit.edu	37	7	45743232	45743232	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr7:45743232G>A	ENST00000297323.7	+	16	2627	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	869					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCAGGTGGGCGTCATGTTTGC	0.572000													17	66					0	0	0.055883	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192947	102192947	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chrX:102192947G>A	ENST00000218249.5	+	1	748	c.701G>A	c.(700-702)aGg>aAg	p.R234K	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	234					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CTGAATGCCAGGATGATGCGA	0.587000													48	49					0	0	0.139131	0	0
SCN3A	6328	broad.mit.edu	37	2	165997340	165997340	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:165997340G>A	ENST00000360093.3	-	13	2331	c.1840C>T	c.(1840-1842)Ccg>Tcg	p.P614S	SCN3A_ENST00000409101.3_Missense_Mutation_p.P614S|SCN3A_ENST00000283254.7_Missense_Mutation_p.P614S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGTCTGTGCGGCACAAACAGT	0.507000													4	59					0	0	0.150653	0	0
APOL5	80831	broad.mit.edu	37	22	36122860	36122860	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr22:36122860G>A	ENST00000249044.2	+	3	745	c.745G>A	c.(745-747)Gcc>Acc	p.A249T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	249					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTACCAGATGGCCAAATCCAA	0.483000													4	207					0	0	0.150653	0	0
FRG1BP	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													5	50					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179598097	179598097	+	Missense_Mutation	SNP	C	C	T	rs146847928	by1000genomes	TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:179598097C>T	ENST00000589042.1	-	54	16147	c.15923G>A	c.(15922-15924)cGa>cAa	p.R5308Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4064Q|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R4991Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4991	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAACTTATTCGGTATTTTTT	0.473000													28	89					0	0	0.108266	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615521	70615521	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr4:70615521T>C	ENST00000310613.2	-	4	590	c.293A>G	c.(292-294)gAg>gGg	p.E98G		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TGGATTCTTCTCCAATTGTTC	0.383000													17	72					0	0	0.049695	0	0
NCAPH	23397	broad.mit.edu	37	2	97019076	97019076	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:97019076A>T	ENST00000455200.1	+	8	1205	c.910A>T	c.(910-912)Atc>Ttc	p.I304F	NCAPH_ENST00000427946.1_Missense_Mutation_p.I179F|NCAPH_ENST00000240423.4_Missense_Mutation_p.I315F			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	315					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGATCGCCAGATCTGCCCTTC	0.502000													16	36					0	0	0.146539	0	0
MACF1	23499	broad.mit.edu	37	1	39749133	39749133	+	Silent	SNP	G	G	A	rs150686066		TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:39749133G>A	ENST00000564288.1	+	9	1638	c.861G>A	c.(859-861)tcG>tcA	p.S287S	MACF1_ENST00000361689.2_Silent_p.S292S|MACF1_ENST00000317713.7_Silent_p.S292S|MACF1_ENST00000372915.3_Silent_p.S292S|MACF1_ENST00000539005.1_Silent_p.S292S|MACF1_ENST00000567887.1_Silent_p.S324S|MACF1_ENST00000545844.1_Silent_p.S292S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	292	Actin-binding.|CH 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S292S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGTGTCTTCGATTTATGATG	0.408000													16	48					0	0	0.160694	0	0
DNMT1	1786	broad.mit.edu	37	19	10249194	10249194	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr19:10249194G>A	ENST00000340748.4	-	34	4223	c.3988C>T	c.(3988-3990)Cca>Tca	p.P1330S	DNMT1_ENST00000359526.4_Missense_Mutation_p.P1346S|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1330S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1330	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACGTGCAGTGGCTCCGGGAAC	0.652000													12	57					0	0	0.160694	0	0
DIEXF	27042	broad.mit.edu	37	1	210024731	210024731	+	Missense_Mutation	SNP	G	G	A	rs141651647	by1000genomes	TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:210024731G>A	ENST00000491415.2	+	12	2267	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	737					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GGTGTGGAGCGGGCGGCACAG	0.498000													11	38					0	0	0.069234	0	0
CYLD	1540	broad.mit.edu	37	16	50818266	50818266	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr16:50818266A>C	ENST00000540145.1	+	12	2268	c.1853A>C	c.(1852-1854)gAc>gCc	p.D618A	RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.D433A|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.D615A|CYLD_ENST00000566206.1_Missense_Mutation_p.D615A|CYLD_ENST00000569418.1_Missense_Mutation_p.D615A|CYLD_ENST00000427738.3_Missense_Mutation_p.D618A|CYLD_ENST00000398568.2_Missense_Mutation_p.D615A|CYLD_ENST00000311559.9_Missense_Mutation_p.D618A			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	618					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TCTGTTCTGGACACTGTGTTA	0.318000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				18	56					0	0	0.160694	0	0
ECT2	1894	broad.mit.edu	37	3	172501696	172501696	+	Silent	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr3:172501696C>T	ENST00000417960.1	+	16	2106	c.1629C>T	c.(1627-1629)ctC>ctT	p.L543L	ECT2_ENST00000540509.1_Silent_p.L575L|ECT2_ENST00000441497.2_Silent_p.L544L|ECT2_ENST00000427830.1_Silent_p.L544L|ECT2_ENST00000232458.5_Silent_p.L544L|ECT2_ENST00000392692.3_Silent_p.L575L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	544	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGCTTTTCTCAAGGTAATGT	0.269000													12	156					0	0	0.080935	0	0
SLC25A22	79751	broad.mit.edu	37	11	792587	792587	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr11:792587C>T	ENST00000320230.5	-	7	1034	c.553G>A	c.(553-555)Ggt>Agt	p.G185S	SLC25A22_ENST00000531214.1_Missense_Mutation_p.G185S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	185						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TTGTAGAGACCGGCAATGCCA	0.736000													7	18					0	0	0.047766	0	0
IPO13	9670	broad.mit.edu	37	1	44433110	44433117	+	Frame_Shift_Del	DEL	TTCCCCTC	TTCCCCTC	-			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr1:44433110_44433117delTTCCCCTC	ENST00000372343.3	+	19	3399_3406	c.2737_2744delTTCCCCTC	c.(2737-2745)tfs	p.FPS913fs	IPO13_ENST00000372339.3_Frame_Shift_Del_p.FPS131fs	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	913					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCCACCTGGTTTCCCCTCTGCCCGCCTC	0.615													20	55	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179597035	179597035	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr2:179597035delA	ENST00000589042.1	-	57	16885	c.16661delT	c.(16660-16662)cgfs	p.L5555fs	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.L4311fs|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.L5238fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5238	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTTTAACAGCTGTGATGG	0.393													38	155	---	---	---	---					
ATR	545	broad.mit.edu	37	3	142274740	142274740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr3:142274740delT	ENST00000350721.4	-	10	2441	c.2320delA	c.(2320-2322)tafs	p.I774fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.I710fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	774					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGACTAGGTATTTTTTTTTTC	0.328								Other conserved DNA damage response genes					9	197	---	---	---	---					
C8orf37-AS1	100616530	broad.mit.edu	37	8	96415908	96415919	+	RNA	DEL	TTTTTTTTTTTT	TTTTTTTTTTTT	-	rs59279759		TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr8:96415908_96415919delTTTTTTTTTTTT	ENST00000521905.1	+	0	126																											aataaaAGACtttttttttttttttttttttt	0.321													2	4	---	---	---	---					
AP003068.18	0	broad.mit.edu	37	11	64943050	64943050	+	RNA	DEL	T	T	-			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chr11:64943050delT	ENST00000534819.1	-	0	891																											gcccggctaattttttttttg	0.522													2	4	---	---	---	---					
RP1-154K9.2	0	broad.mit.edu	37	X	42384560	42384561	+	RNA	DEL	AA	AA	-			TCGA-CR-6470-01A-11D-1870-08	TCGA-CR-6470-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30bc4d1e-f0cb-44c5-a32c-b4b690cd6cc5	59978c6f-681c-4364-af89-f56717688b71	g.chrX:42384560_42384561delAA	ENST00000411879.1	+	0	523																											CAGCCAAGGGAAAAAAAAAAAA	0.322													5	5	---	---	---	---