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
IGHV1-45	0	broad.mit.edu	37	14	106963045	106963045	+	RNA	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr14:106963045G>A	ENST00000390621.2	-	0	294																											ATTTCTGTGCGTAGTTGGTGT	0.547000													74	115					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149314	34149314	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:34149314C>T	ENST00000346193.3	-	1	1133	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	361								p.R361H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGGCGGAGACGGGACACTCC	0.647000													4	69					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480635	32480635	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr22:32480635T>A	ENST00000266088.4	+	8	1124	c.874T>A	c.(874-876)Tgc>Agc	p.C292S	SLC5A1_ENST00000543737.1_Missense_Mutation_p.C165S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	292					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTGGTACTGGTGCACAGATCA	0.567000													3	39					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42629113	42629113	+	Silent	SNP	T	T	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr4:42629113T>A	ENST00000381668.5	-	2	294	c.63A>T	c.(61-63)acA>acT	p.T21T	ATP8A1_ENST00000510289.1_Silent_p.T21T|ATP8A1_ENST00000264449.10_Silent_p.T21T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	21					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AAACATCATCTGTCTTCTCAT	0.368000													3	33					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41516036	41516036	+	Silent	SNP	T	T	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:41516036T>C	ENST00000324071.4	+	6	967	c.960T>C	c.(958-960)gtT>gtC	p.V320V	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	320					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCCTCATGTTGCAGGTGGGC	0.572000													8	52					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129803980	129803980	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:129803980T>G	ENST00000338144.3	-	8	1157	c.740A>C	c.(739-741)tAt>tCt	p.Y247S	ENOX2_ENST00000394363.1_Missense_Mutation_p.Y218S|ENOX2_ENST00000370935.1_Missense_Mutation_p.Y218S|ENOX2_ENST00000370927.1_Missense_Mutation_p.Y247S	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	247					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATGATCTGAATAGTGGACCAC	0.428000													37	60					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4412682	4412682	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:4412682C>A	ENST00000251166.4	-	15	1478	c.1333G>T	c.(1333-1335)Ggg>Tgg	p.G445W	CORO7_ENST00000423908.2_Missense_Mutation_p.G277W|CORO7_ENST00000539968.1_Missense_Mutation_p.G225W|CORO7_ENST00000537233.2_Missense_Mutation_p.G427W|CORO7_ENST00000574025.1_Missense_Mutation_p.G360W|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G445W	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGTGAGGGCCCCAGGCTGGAG	0.667000													3	40					0.004672	0.004672	1	1	0
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	by1000genomes	TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P					nuclear pore complex interacting protein family, member B6									p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507000													5	47					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33395149	33395149	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr9:33395149T>C	ENST00000539936.1	-	3	309	c.71A>G	c.(70-72)aAg>aGg	p.K24R	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	24					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TTCCTGGATCTTTGCTATCAC	0.557000													3	35					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26529704	26529704	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr11:26529704G>C	ENST00000256737.3	+	5	1338	c.486G>C	c.(484-486)aaG>aaC	p.K162N	ANO3_ENST00000525139.1_Missense_Mutation_p.K146N|ANO3_ENST00000531646.1_Missense_Mutation_p.K162N|ANO3_ENST00000537978.1_Missense_Mutation_p.K146N|ANO3_ENST00000531568.1_Missense_Mutation_p.K16N	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	162				K -> R (in Ref. 1; CAC32454).		chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATGGCAAAAAGAGAATTGATT	0.348000													19	22					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66437025	66437025	+	Silent	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:66437025C>T	ENST00000341529.3	+	12	2456	c.2308C>T	c.(2308-2310)Ctg>Ttg	p.L770L	CDH5_ENST00000539168.1_Silent_p.L209L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	770					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GTTTAAGATGCTGGCTGAGCT	0.632000													3	18					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279816	152279816	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr1:152279816G>C	ENST00000368799.1	-	3	7581	c.7546C>G	c.(7546-7548)Caa>Gaa	p.Q2516E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2516	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTACGAGTTTGTCTGCTTGCA	0.567000									Ichthyosis				5	468					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010713	78010713	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:78010713C>T	ENST00000435339.2	+	2	752	c.347C>T	c.(346-348)aCt>aTt	p.T116I	LPAR4_ENST00000373301.2_Missense_Mutation_p.T116I	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	116						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATCTCTGGAACTGCATTCCTT	0.423000													33	113					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	159					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51285806	51285806	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr15:51285806A>G	ENST00000261842.5	+	17	2436	c.2330A>G	c.(2329-2331)gAa>gGa	p.E777G	AP4E1_ENST00000560508.1_Missense_Mutation_p.E702G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	777					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTAGGATCAGAAAGTACAATC	0.378000													32	61					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109818700	109818700	+	Silent	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr6:109818700A>G	ENST00000424296.2	-	38	5359	c.5283T>C	c.(5281-5283)tgT>tgC	p.C1761C	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CTTTGTTCTCACAAATATATA	0.338000													27	45					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													3	33					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360408	149360408	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr5:149360408A>G	ENST00000286298.4	+	3	1520	c.1252A>G	c.(1252-1254)Atg>Gtg	p.M418V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	418						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAACCAGGAAATGTATGCCAT	0.388000													5	83					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630130	187630130	+	Silent	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr4:187630130A>G	ENST00000441802.2	-	2	1061	c.852T>C	c.(850-852)ggT>ggC	p.G284G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	284					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACCATTGGCACCCTGATCGC	0.483000										HNSCC(5;0.00058)			9	263					0	0	1	0	0
SSX6	0	broad.mit.edu	37	X	47972599	47972599	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:47972599G>T	ENST00000319275.3	+	5	376	c.10G>T	c.(10-12)Ggc>Tgc	p.G4C	SSX6_ENST00000376932.2_Missense_Mutation_p.G102C																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						GATGACTTTTGGCAGGCTCCA	0.453000													90	161					2.05045e-34	2.16762e-34	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22363510	22363510	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:22363510A>G	ENST00000397121.2	-	3	1326	c.1009T>C	c.(1009-1011)Tac>Cac	p.Y337H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCACATTTGTAGGGTTTCTCT	0.413000													14	142					0	0	1	0	0
ARHGEF39	84904	broad.mit.edu	37	9	35664419	35664419	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr9:35664419G>A	ENST00000378387.3	-	3	421	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	ARHGEF39_ENST00000378395.2_Missense_Mutation_p.L66F|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.L102F|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2			Rho guanine nucleotide exchange factor (GEF) 39																		TGGTTATAGAGCTCCAAGTGG	0.572000													30	59					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221718	5221718	+	Silent	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr11:5221718G>A	ENST00000321255.1	-	1	212	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATGGACAGGAAGTAAAACA	0.527000													27	46					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833230	6833230	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:6833230G>A	ENST00000304076.2	+	16	1638	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	VAV1_ENST00000596764.1_Missense_Mutation_p.G483E|VAV1_ENST00000602142.1_Missense_Mutation_p.G515E|VAV1_ENST00000599806.1_Missense_Mutation_p.G460E|VAV1_ENST00000539284.1_Missense_Mutation_p.G418E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	515					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ACCGCCAACGGGCATGACTTC	0.468000													18	24					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31432959	31432959	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr18:31432959G>C	ENST00000261592.5	-	11	2061	c.1764C>G	c.(1762-1764)agC>agG	p.S588R	NOL4_ENST00000269185.4_Missense_Mutation_p.S372R|NOL4_ENST00000535384.1_Missense_Mutation_p.S303R|NOL4_ENST00000589544.1_Missense_Mutation_p.S486R|NOL4_ENST00000538587.1_Missense_Mutation_p.S514R|NOL4_ENST00000535475.1_Missense_Mutation_p.S369R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	588						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGATCCTGAGCTAGTCGCCA	0.443000													5	58					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21710341	21710341	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr18:21710341C>T	ENST00000540918.2	+	7	912	c.662C>T	c.(661-663)gCc>gTc	p.A221V	TTC39C_ENST00000317571.3_Missense_Mutation_p.A528V|TTC39C_ENST00000304621.6_Missense_Mutation_p.A467V			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	528							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CAGCCGTATGCCTGTTATGAA	0.313000													5	139					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414926	14414926	+	RNA	SNP	A	A	C	rs2821611		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr21:14414926A>C	ENST00000507941.1	+	0	95																											AAACAGGACAACTCTGATGAA	0.403000													4	91					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1554459	1554459	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr17:1554459G>A	ENST00000572621.1	-	41	7061	c.6796C>T	c.(6796-6798)Cgt>Tgt	p.R2266C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R2266C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2266						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCAAGGAAACGGTCCGACAGC	0.572000													3	29					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	rs121912667		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr17:7577084T>A	ENST00000420246.2	-	8	986	c.854A>T	c.(853-855)gAg>gTg	p.E285V	TP53_ENST00000269305.4_Missense_Mutation_p.E285V|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000455263.2_Missense_Mutation_p.E285V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		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.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		ATTCTCTTCCTCTGTGCGCCG	0.562000		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)			21	5					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													7	7	---	---	---	---					
ANKRD36BP2	0	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576																											GTATTCCTTTTTTTTCAGTGTA	0.347													3	4	---	---	---	---					
VCAN	1462	broad.mit.edu	37	5	82835161	82835163	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr5:82835161_82835163delAAC	ENST00000265077.3	+	8	6904_6906	c.6339_6341delAAC	c.(6337-6342)gaa>ga	p.ET2113del	VCAN_ENST00000343200.5_In_Frame_Del_p.ET1126del|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2113	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGAAAGTGAAACAACATCAGAG	0.379													20	56	---	---	---	---					
PRR25	388199	broad.mit.edu	37	16	863356	863372	+	Frame_Shift_Del	DEL	GGACGCCGGACCGACAC	GGACGCCGGACCGACAC	-	rs113623365		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:863356_863372delGGACGCCGGACCGACAC	ENST00000301698.1	+	3	704_720	c.704_720delGGACGCCGGACCGACAC	c.(703-720)afs	p.RTPDRH235fs		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	235										large_intestine(1)|lung(1)|skin(1)	3						GGACCGGCAAGGACGCCGGACCGACACGGCCTCCCCA	0.714													6	3	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)aca>ac	p.TT52del	CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													7	219	---	---	---	---					
