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
EYA3	2140	broad.mit.edu	37	1	28339771	28339771	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr1:28339771T>C	ENST00000373871.3	-	9	860	c.620A>G	c.(619-621)cAg>cGg	p.Q207R	EYA3_ENST00000436342.2_Missense_Mutation_p.Q81R|EYA3_ENST00000545175.1_Missense_Mutation_p.Q154R|EYA3_ENST00000373863.3_Missense_Mutation_p.Q161R|EYA3_ENST00000373864.1_Missense_Mutation_p.Q51R|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Missense_Mutation_p.Q161R	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	207					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GGCCTGGTACTGATTCTGACC	0.463000													34	40					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5735137	5735137	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr4:5735137C>T	ENST00000382674.2	+	5	861	c.677C>T	c.(676-678)aCg>aTg	p.T226M	EVC_ENST00000509451.1_Missense_Mutation_p.T226M|EVC_ENST00000264956.6_Missense_Mutation_p.T226M			P57679	EVC_HUMAN	Ellis van Creveld syndrome	226					muscle organ development	integral to membrane		p.T226M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CATTTGGACACGGCACTGAGG	0.478000													42	221					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420458	11420458	+	Missense_Mutation	SNP	C	C	T	rs28435564		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr12:11420458C>T	ENST00000279573.7	-	3	860	c.725G>A	c.(724-726)cGt>cAt	p.R242H	PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.612000													5	18					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30919895	30919895	+	Silent	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919895C>G	ENST00000462446.1	+	2	3682	c.3654C>G	c.(3652-3654)acC>acG	p.T1218T	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Silent_p.T60T			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	342						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCACACTGACCACTGAGACCA	0.453000													23	68					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327897	16327897	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:16327897C>A	ENST00000244769.4	-	8	1581	c.645G>T	c.(643-645)caG>caT	p.Q215H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q215H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	215	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.Q215H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.667000													5	10					0.184627	0.184627	1	1	0
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438000			Mis		myelodysplastic syndrome								19	27					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74535622	74535622	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr3:74535622T>G	ENST00000263665.6	-	3	370	c.343A>C	c.(343-345)Aaa>Caa	p.K115Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	115	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AACTGAAGTTTGGCTTCTCTG	0.338000													9	31					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168175312	168175312	+	Silent	SNP	G	G	A	rs116182795	byFrequency	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr5:168175312G>A	ENST00000519560.1	-	20	2684	c.2265C>T	c.(2263-2265)acC>acT	p.T755T	SLIT3_ENST00000404867.3_Silent_p.T755T|SLIT3_ENST00000332966.8_Silent_p.T755T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	755					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTACAGCTCGGTCACATCCT	0.612000													20	74					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43429111	43429111	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:43429111C>T	ENST00000039989.4	+	15	2062	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	TTC17_ENST00000299240.6_Missense_Mutation_p.A683V|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	683							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAAGCTTTGGCCATCAATAGC	0.388000													3	44					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30919829	30919829	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919829C>G	ENST00000462446.1	+	2	3616	c.3588C>G	c.(3586-3588)tgC>tgG	p.C1196W	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.C38W			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	320						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AGACCATATGCACCAAAGGGA	0.478000													22	64					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512000													19	73					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767698	39767698	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr17:39767698G>A	ENST00000301653.4	-	3	734	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	224	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AACACCCGGCGCAGGCCATTG	0.617000													4	68					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12867686	12867686	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr10:12867686G>A	ENST00000378847.3	+	10	1373	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.D346N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	346	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAGCCAAAAAGACTGTGCGTA	0.552000													5	122					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45668011	45668011	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr14:45668011G>T	ENST00000267430.5	+	22	5966	c.5881G>T	c.(5881-5883)Gtt>Ttt	p.V1961F	FANCM_ENST00000542564.2_Missense_Mutation_p.V1935F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1961	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGTATTCATGTTCCAACAGT	0.358000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	31					2.48551e-13	2.66962e-13	1	1	0
KRT31	3881	broad.mit.edu	37	17	39550398	39550398	+	Missense_Mutation	SNP	G	G	A	rs111342287	byFrequency	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr17:39550398G>A	ENST00000251645.2	-	7	1173	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	374	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CGCGTTGGTCGTGGCACAGGG	0.557000													17	40					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30920102	30920102	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30920102C>G	ENST00000462446.1	+	2	3889	c.3861C>G	c.(3859-3861)atC>atG	p.I1287M	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.I129M			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	411						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TGAGTTCTATCACATCAGAAG	0.438000													47	111					0	0	1	0	0
GINM1	116254	broad.mit.edu	37	6	149901014	149901014	+	Silent	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:149901014C>T	ENST00000367419.5	+	5	595	c.474C>T	c.(472-474)aaC>aaT	p.N158N		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		TAGTTAAGAACCGGGGAGTAC	0.353000													3	17					0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348000			Mis		uveal melanoma								35	41					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946437	16946437	+	RNA	SNP	C	C	T	rs2262202		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082																											AGCCTTCCGCCGGGCCAGCAG	0.672000													3	19					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79848635	79848635	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr17:79848635G>A	ENST00000331204.4	-	2	325	c.299C>T	c.(298-300)gCc>gTc	p.A100V	ALYREF_ENST00000512673.1_5'UTR|ALYREF_ENST00000505490.2_Missense_Mutation_p.A107V	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	100	Ala/Arg/Gly-rich.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										CTCCACGCCGGCACCACCGCC	0.532000													4	48					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97031759	97031759	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:97031759C>A	ENST00000455200.1	+	14	2106	c.1811C>A	c.(1810-1812)aCa>aAa	p.T604K	NCAPH_ENST00000240423.4_Missense_Mutation_p.T615K|NCAPH_ENST00000427946.1_Missense_Mutation_p.T479K			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	615					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)				GACATCACAACATATGGGGAG	0.438000													3	38					0.115264	0.119381	1	1	0
USP35	57558	broad.mit.edu	37	11	77911266	77911266	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:77911266G>A	ENST00000529308.1	+	5	1285	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.E73K	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	342					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCACTCCCACGAAGCCTTCCA	0.622000													7	28					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56208903	56208903	+	Missense_Mutation	SNP	T	T	C	rs148700559		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr15:56208903T>C	ENST00000508342.1	-	1	426	c.127A>G	c.(127-129)Acg>Gcg	p.T43A	NEDD4_ENST00000338963.2_Missense_Mutation_p.T43A|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.T43A	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	43					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ACGTTAGACGTTGAAATCCGT	0.443000													22	104					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49819827	49819827	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:49819827C>T	ENST00000335847.4	-	3	183	c.82G>A	c.(82-84)Gac>Aac	p.D28N	CRISP1_ENST00000329411.5_Missense_Mutation_p.D28N|CRISP1_ENST00000536021.1_Missense_Mutation_p.D28N|CRISP1_ENST00000507853.1_Missense_Mutation_p.D28N|CRISP1_ENST00000505118.1_Missense_Mutation_p.D28N|CRISP1_ENST00000355791.2_Missense_Mutation_p.D28N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	28					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TTAAATTGGTCTCTAGCTGAT	0.368000													4	144					0	0	1	0	0
ZNF195	0	broad.mit.edu	37	11	3380662	3380662	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:3380662C>T	ENST00000354599.6	-	4	1464	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	ZNF195_ENST00000399602.4_Missense_Mutation_p.E526K|ZNF195_ENST00000429541.2_Missense_Mutation_p.E458K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.E458K|ZNF195_ENST00000526601.1_Missense_Mutation_p.E507K|ZNF195_ENST00000005082.9_Missense_Mutation_p.E503K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTTCCACATTCGTCACATTTG	0.413000													41	51					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47573987	47573987	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:47573987C>T	ENST00000359314.5	+	14	1960	c.1504C>T	c.(1504-1506)Ccg>Tcg	p.P502S		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	502					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGAAGGTTGCCGGGCCGTTT	0.378000													4	129					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30919999	30919999	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919999C>G	ENST00000462446.1	+	2	3786	c.3758C>G	c.(3757-3759)tCt>tGt	p.S1253C	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.S95C			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	377						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GGAGACAAATCTCTCACTACT	0.418000													31	101					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47882984	47882984	+	Silent	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr19:47882984C>T	ENST00000328771.4	+	14	3073	c.2724C>T	c.(2722-2724)agC>agT	p.S908S		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	908						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGCTTTTTAGCCGGTCTTTGG	0.632000													4	121					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				5	8	---	---	---	---					
ANO8	57719	broad.mit.edu	37	19	17439127	17439127	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr19:17439127delC	ENST00000159087.4	-	13	2228	c.2070delG	c.(2068-2070)gggfs	p.G690fs		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	690						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CCCCGTCGGGCCCCTGGTCTC	0.741													2	4	---	---	---	---					
