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
MUC5B	727897	broad.mit.edu	37	11	1262890	1262890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:1262890C>T	ENST00000447027.1	+	31	4847	c.4789C>T	c.(4789-4791)Cgg>Tgg	p.R1597W	MUC5B_ENST00000529681.1_Missense_Mutation_p.R1594W			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1594	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTACAGGATCCGGGTCCTCTG	0.637000													4	27					0	0	0.014758	0	0
MED16	10025	broad.mit.edu	37	19	873494	873494	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:873494C>G	ENST00000312090.6	-	11	2010	c.1860G>C	c.(1858-1860)tgG>tgC	p.W620C	MED16_ENST00000589119.1_Missense_Mutation_p.W620C|MED16_ENST00000395808.3_Missense_Mutation_p.W620C|MED16_ENST00000325464.1_Missense_Mutation_p.W620C|MED16_ENST00000269814.4_Missense_Mutation_p.W620C			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	620					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCGCCCACCCACTGCAAGA	0.597000													4	84					0	0	0.009096	0	0
MYH7	4625	broad.mit.edu	37	14	23891477	23891477	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:23891477G>A	ENST00000355349.3	-	25	3319	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1053					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCAGCTTCCGCTTCGCTCGC	0.582000													9	61					0	0	0.058154	0	0
DNMT3B	1789	broad.mit.edu	37	20	31385069	31385069	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr20:31385069G>T	ENST00000328111.2	+	14	1775	c.1454G>T	c.(1453-1455)cGa>cTa	p.R485L	DNMT3B_ENST00000443239.3_Missense_Mutation_p.R423L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R465L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R389L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R465L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R477L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R465L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	485	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCGAGGGCCGAGAGCTGCTG	0.587000													16	117					1.3612e-06	1.72152e-06	0.024245	1	0
CHL1	10752	broad.mit.edu	37	3	369940	369940	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr3:369940C>T	ENST00000256509.2	+	5	930	c.288C>T	c.(286-288)aaC>aaT	p.N96N	CHL1_ENST00000397491.2_Silent_p.N96N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	96	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGATCCCAAACGAGGGGCACA	0.388000													14	80					0	0	0.105934	0	0
NETO1	81832	broad.mit.edu	37	18	70532113	70532113	+	Silent	SNP	T	T	C			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr18:70532113T>C	ENST00000327305.6	-	3	807	c.150A>G	c.(148-150)ggA>ggG	p.G50G	NETO1_ENST00000397929.1_Silent_p.G49G|NETO1_ENST00000299430.2_Silent_p.G49G|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Silent_p.G50G	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	50	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TAAAGATACCTCCCTCTGCAT	0.423000													8	40					0	0	0.047766	0	0
OR1S1	219959	broad.mit.edu	37	11	57982768	57982768	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:57982768C>A	ENST00000309433.6	+	1	552	c.552C>A	c.(550-552)caC>caA	p.H184Q		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTGTAACCACAACACTCTCC	0.438000													35	117					1.22384e-17	1.59469e-17	0.054565	1	0
EVX2	344191	broad.mit.edu	37	2	176947144	176947144	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:176947144G>A	ENST00000308618.4	-	2	597	c.461C>T	c.(460-462)aCg>aTg	p.T154M		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	154						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGCCGACGTCGTGGTGCCGGC	0.711000													4	30					0	0	0.009096	0	0
C12orf56	115749	broad.mit.edu	37	12	64661051	64661051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:64661051G>A	ENST00000543942.2	-	13	2407	c.1781C>T	c.(1780-1782)cCa>cTa	p.P594L	C12orf56_ENST00000333722.5_Missense_Mutation_p.P434L|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	597										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTGCAAGGCTGGCATGTGAAT	0.353000													4	17					0	0	0.009096	0	0
ZNF777	27153	broad.mit.edu	37	7	149152729	149152729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:149152729C>T	ENST00000247930.4	-	2	708	c.385G>A	c.(385-387)Gtt>Att	p.V129I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGAGTGAACGGGGGCTTCC	0.617000													23	174					0	0	0.099896	0	0
SRSF9	8683	broad.mit.edu	37	12	120901793	120901793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:120901793G>A	ENST00000229390.3	-	3	665	c.482C>T	c.(481-483)gCc>gTc	p.A161V		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	161	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding	p.A161V(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						TTTACGCAGGGCATATTCCAT	0.488000													5	192					0	0	0.014758	0	0
HIC2	23119	broad.mit.edu	37	22	21799898	21799898	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr22:21799898C>T	ENST00000443632.2	+	2	1086	c.714C>T	c.(712-714)agC>agT	p.S238S	HIC2_ENST00000407464.2_Silent_p.S238S|HIC2_ENST00000407598.2_Silent_p.S238S			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	238					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACGGGAGCAGCGGGGGCTGCG	0.697000													6	34					0	0	0.021553	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047570	42047570	+	Missense_Mutation	SNP	G	G	A	rs141506685	byFrequency	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:42047570G>A	ENST00000372584.1	-	3	3913	c.2899C>T	c.(2899-2901)Cgc>Tgc	p.R967C	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R967C|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R967C|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R967C	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	967	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R967C(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTTTGGGGCGCATGTCAGAT	0.612000													4	110					0	0	0.014758	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412252	139412252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:139412252C>T	ENST00000277541.6	-	8	1468	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	465	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			20	74					0	0	0.069288	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160251524	160251524	+	Silent	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr4:160251524G>A	ENST00000264431.4	+	7	1277	c.858G>A	c.(856-858)gaG>gaA	p.E286E		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	286	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGGTGGAAGAGCATTCAGTAG	0.378000													17	88					0	0	0.038395	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134458080	134458080	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:134458080C>T	ENST00000372195.1	-	22	3160	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E974K|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.E956K			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	956	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTGCAGTACTCGGCCAGGCCC	0.657000													19	90					0	0	0.049695	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206265	160206265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:160206265G>A	ENST00000392783.2	-	28	5312	c.4817C>T	c.(4816-4818)gCt>gTt	p.A1606V	BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1570V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1572V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1506V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGGATTCTGAGCAGAAGATCC	0.423000													3	62					0	0	0.004672	0	0
DST	667	broad.mit.edu	37	6	56471494	56471494	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr6:56471494C>T	ENST00000370754.5	-	39	7832	c.7833G>A	c.(7831-7833)ctG>ctA	p.L2611L	DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Silent_p.L2107L|DST_ENST00000370769.4_Silent_p.L2433L|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Silent_p.L2433L|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Silent_p.L2433L			Q03001	DYST_HUMAN	dystonin	2433					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTCCTCTTGCAGTGTGTCGT	0.433000													15	104					0	0	0.028581	0	0
ZMYND8	23613	broad.mit.edu	37	20	45839455	45839455	+	Missense_Mutation	SNP	G	G	A	rs146133202		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr20:45839455G>A	ENST00000311275.7	-	22	3765	c.3512C>T	c.(3511-3513)aCg>aTg	p.T1171M	ZMYND8_ENST00000396281.4_Missense_Mutation_p.T1171M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.T1219M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.T1173M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T1145M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.T1119M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T1090M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T1199M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T1226M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T1153M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T1121M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T1120M|ZMYND8_ENST00000458360.2_Missense_Mutation_p.T1039M			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1171	Interacts with PRKCB1.						protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GAGGCTCTTCGTGCTGGTACT	0.542000													10	89					0	0	0.093190	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50191005	50191005	+	Missense_Mutation	SNP	C	C	A	rs78047311		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:50191005C>A	ENST00000335999.6	-	8	839	c.638G>T	c.(637-639)cGg>cTg	p.R213L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	209	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCTGGAGGCCGCCAGGGGGT	0.667000													5	55					1.23904e-05	1.52225e-05	0.014758	1	0
NUPL1	9818	broad.mit.edu	37	13	25875965	25875965	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr13:25875965C>T	ENST00000463407.1	+	1	197	c.54C>T	c.(52-54)gcC>gcT	p.A18A	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Silent_p.A18A|NUPL1_ENST00000381718.3_Silent_p.A18A			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	18	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCACCGTGGCCGCCGGCGGGA	0.667000													4	34					0	0	0.021553	0	0
ZNF510	22869	broad.mit.edu	37	9	99521423	99521423	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:99521423C>T	ENST00000375231.1	-	6	2339	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	ZNF510_ENST00000223428.4_Silent_p.Q563Q			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGTGAGTTTTCTGATGTTGAA	0.423000													9	120					0	0	0.047766	0	0
GPC5	2262	broad.mit.edu	37	13	92346021	92346021	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr13:92346021C>T	ENST00000377067.3	+	3	1278	c.906C>T	c.(904-906)ctC>ctT	p.L302L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	302						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGGAAGAACTCTCGGATGCAA	0.493000													17	76					0	0	0.028581	0	0
CASC5	57082	broad.mit.edu	37	15	40954309	40954309	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr15:40954309C>T	ENST00000346991.5	+	27	7342	c.6952C>T	c.(6952-6954)Ctg>Ttg	p.L2318L	CASC5_ENST00000399668.2_Silent_p.L2292L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2318					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TAAAGTGCCACTGGAGAACAA	0.433000													17	84					0	0	0.043863	0	0
ENPEP	2028	broad.mit.edu	37	4	111398075	111398075	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr4:111398075G>A	ENST00000265162.5	+	1	847	c.505G>A	c.(505-507)Gtg>Atg	p.V169M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	169					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCAGGAGTACGTGGTGGTCGA	0.632000													31	165					0	0	0.059317	0	0
MARK4	57787	broad.mit.edu	37	19	45762439	45762439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:45762439G>A	ENST00000300843.4	+	2	541	c.244G>A	c.(244-246)Ggt>Agt	p.G82S	MARK4_ENST00000262891.4_Missense_Mutation_p.G82S	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	82	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CATCCTCACTGGTCGGGAGGT	0.617000													3	27					0	0	0.004672	0	0
HAND2	9464	broad.mit.edu	37	4	174449919	174449919	+	Silent	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr4:174449919G>A	ENST00000359562.4	-	1	1461	c.522C>T	c.(520-522)acC>acT	p.T174T	HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	174					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CTTTCACGTCGGTCTTCTTGA	0.627000													14	34					0	0	0.020292	0	0
HNF4G	3174	broad.mit.edu	37	8	76471035	76471035	+	Splice_Site	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:76471035G>A	ENST00000396423.2	+	8	980		c.e8-1		HNF4G_ENST00000354370.1_Splice_Site	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCTTTGTTAGATGCAAAAGG	0.353000													13	28					0	0	0.105934	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019939	131019939	+	Silent	SNP	G	G	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr9:131019939G>T	ENST00000421699.2	-	24	2590	c.2578C>A	c.(2578-2580)Cgg>Agg	p.R860R		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	860						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCCCGGTGCCGCTCCTTCAGC	0.622000													19	202					1.33834e-09	1.71787e-09	0.043863	1	0
MEGF8	1954	broad.mit.edu	37	19	42847639	42847639	+	Silent	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:42847639G>A	ENST00000334370.4	+	9	2159	c.1524G>A	c.(1522-1524)gcG>gcA	p.A508A	MEGF8_ENST00000251268.6_Silent_p.A508A	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	508						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCGAGCAGCGCCTCCCAGTG	0.642000													7	59					0	0	0.047766	0	0
P2RY10	27334	broad.mit.edu	37	X	78217018	78217018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chrX:78217018G>C	ENST00000171757.2	+	4	1281	c.1001G>C	c.(1000-1002)gGt>gCt	p.G334A	P2RY10_ENST00000544091.1_Missense_Mutation_p.G334A	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	334						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AAGGAGAGTGGTTCATCAATG	0.418000													18	133					0	0	0.049695	0	0
ATG2B	55102	broad.mit.edu	37	14	96829296	96829296	+	Silent	SNP	C	C	G			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:96829296C>G	ENST00000359933.4	-	1	911	c.18G>C	c.(16-18)tcG>tcC	p.S6S		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	6										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGATGGACTCCGAAAACGGCC	0.657000													13	108					0	0	0.105934	0	0
SPTA1	6708	broad.mit.edu	37	1	158621162	158621162	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:158621162G>A	ENST00000368148.3	-	24	3652	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1158W	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1158					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTACCTGCCGGATTTGAGCT	0.458000													21	194					0	0	0.062417	0	0
PLEC	5339	broad.mit.edu	37	8	144993755	144993755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:144993755C>T	ENST00000322810.4	-	32	10814	c.10645G>A	c.(10645-10647)Gcc>Acc	p.A3549T	PLEC_ENST00000345136.3_Missense_Mutation_p.A3412T|PLEC_ENST00000357649.2_Missense_Mutation_p.A3416T|PLEC_ENST00000398774.2_Missense_Mutation_p.A3380T|PLEC_ENST00000354589.3_Missense_Mutation_p.A3412T|PLEC_ENST00000436759.2_Missense_Mutation_p.A3439T|PLEC_ENST00000354958.2_Missense_Mutation_p.A3390T|PLEC_ENST00000356346.3_Missense_Mutation_p.A3398T|PLEC_ENST00000527096.1_Missense_Mutation_p.A3435T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3549	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTTCACGGCCTCGTGGACA	0.687000													13	38					0	0	0.093190	0	0
FAM211B	388886	broad.mit.edu	37	22	24982181	24982181	+	Silent	SNP	C	C	T	rs111248278		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr22:24982181C>T	ENST00000318753.8	-	4	644	c.621G>A	c.(619-621)ctG>ctA	p.L207L	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	207																	TGAGGCGGGGCAGCGCCCACA	0.652000													27	95					0	0	0.091800	0	0
TTN	7273	broad.mit.edu	37	2	179411521	179411521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:179411521C>T	ENST00000589042.1	-	341	94858	c.94634G>A	c.(94633-94635)cGt>cAt	p.R31545H	TTN_ENST00000342992.6_Missense_Mutation_p.R28977H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22480H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22605H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29904H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22672H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29904	Ig-like 140.						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)			GACTGGCTTACGCTCTATGAT	0.498000													12	59					0	0	0.093190	0	0
MYH14	79784	broad.mit.edu	37	19	50805052	50805052	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:50805052C>T	ENST00000440075.2	+	40	5651	c.5604C>T	c.(5602-5604)gcC>gcT	p.A1868A	MYH14_ENST00000425460.1_Silent_p.A1835A|MYH14_ENST00000376970.2_Silent_p.A1860A|MYH14_ENST00000262269.8_Silent_p.A1868A|MYH14_ENST00000601313.1_Silent_p.A1868A|MYH14_ENST00000598205.1_Silent_p.A1835A|MYH14_ENST00000596571.1_Silent_p.A1827A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1827					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGGCCCGTGCCCGCCACAAGA	0.637000													6	33					0	0	0.021553	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585202	70585202	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:70585202C>T	ENST00000260126.3	-	10	3155	c.2449G>A	c.(2449-2451)Gca>Aca	p.A817T	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A762T	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	817						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTCTGTGCTGCGCACTGGATC	0.617000													11	79					0	0	0.069234	0	0
PLCE1	51196	broad.mit.edu	37	10	96014690	96014690	+	Silent	SNP	C	C	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr10:96014690C>A	ENST00000260766.3	+	11	4072	c.3438C>A	c.(3436-3438)tcC>tcA	p.S1146S	PLCE1_ENST00000371380.2_Silent_p.S1146S|PLCE1_ENST00000371375.1_Silent_p.S838S|PLCE1_ENST00000371385.3_Silent_p.S838S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1146					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCCTCCCTTCCAGAAGAGCCC	0.532000													21	200					2.70639e-06	3.37319e-06	0.069288	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	30					0	0	0.004672	0	0
ABCD4	5826	broad.mit.edu	37	14	74757040	74757040	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:74757040C>T	ENST00000356924.4	-	12	1424	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	ABCD4_ENST00000298816.7_Silent_p.K323K|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	427	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GCAAGGAGGTCTTGCCAGTGC	0.627000											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	128					0	0	0.091800	0	0
LIPE	3991	broad.mit.edu	37	19	42914528	42914528	+	Silent	SNP	G	G	C	rs151324837	byFrequency	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:42914528G>C	ENST00000244289.4	-	2	1626	c.1350C>G	c.(1348-1350)acC>acG	p.T450T	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_Intron	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	450					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGAAGTCGGCGGTGAGCCCCT	0.667000													3	26					0	0	0.004672	0	0
POM121	9883	broad.mit.edu	37	7	72418901	72418901	+	Silent	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:72418901G>A	ENST00000395270.1	+	16	3933	c.2892G>A	c.(2890-2892)ccG>ccA	p.P964P	NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000446813.1_Silent_p.P964P	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1003	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AACACAGCCCGAGGAAGGGAC	0.488000													14	85					0	0	0.020292	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	22					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7578503	7578503	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr17:7578503C>T	ENST00000420246.2	-	5	559	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	TP53_ENST00000455263.2_Missense_Mutation_p.V143M|TP53_ENST00000445888.2_Missense_Mutation_p.V143M|TP53_ENST00000413465.2_Missense_Mutation_p.V143M|TP53_ENST00000269305.4_Missense_Mutation_p.V143M|TP53_ENST00000359597.4_Missense_Mutation_p.V143M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V143M(19)|p.0?(8)|p.V143L(4)|p.V143fs*27(2)|p.V11M(1)|p.L137_W146del10(1)|p.V143fs*29(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V50M(1)|p.V143_S149del(1)|p.C141fs*5(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)		CACAGCTGCACAGGGCAGGTC	0.587000		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)			10	46					0	0	0.080935	0	0
USH2A	7399	broad.mit.edu	37	1	215847770	215847770	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:215847770G>A	ENST00000366943.2	-	63	13869	c.13483C>T	c.(13483-13485)Cgt>Tgt	p.R4495C	USH2A_ENST00000307340.3_Missense_Mutation_p.R4495C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4495	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTAAAATCACGATAGCGTGTT	0.458000										HNSCC(13;0.011)			28	165					0	0	0.034045	0	0
FGD5	152273	broad.mit.edu	37	3	14942543	14942543	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr3:14942543G>A	ENST00000285046.5	+	9	3349	c.3239G>A	c.(3238-3240)cGt>cAt	p.R1080H	FGD5_ENST00000543601.1_Missense_Mutation_p.R839H|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1080	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTCACAGACCGTGCCAACGAC	0.612000													22	101					0	0	0.069288	0	0
ABHD2	11057	broad.mit.edu	37	15	89698752	89698752	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr15:89698752C>T	ENST00000352732.5	+	5	1045	c.525C>T	c.(523-525)cgC>cgT	p.R175R	ABHD2_ENST00000355100.3_Silent_p.R175R|ABHD2_ENST00000565973.1_Silent_p.R175R	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	175						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCTCGCCACGCATGTTCACCT	0.483000													27	96					0	0	0.041601	0	0
EPDR1	54749	broad.mit.edu	37	7	37988614	37988614	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:37988614G>A	ENST00000199448.4	+	2	821	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	EPDR1_ENST00000559325.1_Missense_Mutation_p.V268I|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Missense_Mutation_p.V87I|EPDR1_ENST00000476620.1_Missense_Mutation_p.V46I	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	148					cell-matrix adhesion	extracellular region	calcium ion binding	p.V268I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GCAGATCACCGTCCAGGAGTG	0.493000													7	85					0	0	0.029380	0	0
FSHB	2488	broad.mit.edu	37	11	30255210	30255210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:30255210G>A	ENST00000417547.1	+	3	292	c.253G>A	c.(253-255)Gct>Act	p.A85T	FSHB_ENST00000254122.3_Missense_Mutation_p.A85T|FSHB_ENST00000533718.1_Missense_Mutation_p.A85T	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	85					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GCCCGGCTGTGCTCACCATGC	0.527000													6	63					0	0	0.021553	0	0
OR4N2	390429	broad.mit.edu	37	14	20296100	20296100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:20296100C>T	ENST00000568211.1	+	1	493	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	OR4N2_ENST00000315947.1_Missense_Mutation_p.R165C			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTCATCCTCCGCTTGCCTTT	0.517000													14	239					0	0	0.024245	0	0
ZNF775	285971	broad.mit.edu	37	7	150094922	150094922	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:150094922C>T	ENST00000329630.5	+	3	1460	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C451C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAACGAGTGCGGCAAGAGCT	0.731000													5	14					0	0	0.021553	0	0
GRIN2C	2905	broad.mit.edu	37	17	72851194	72851194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr17:72851194G>A	ENST00000293190.5	-	2	184	c.38C>T	c.(37-39)tCg>tTg	p.S13L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.S13L|GRIN2C_ENST00000578159.1_Intron	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	13					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACCGAAGAGCGAGGTGAGCAA	0.682000													12	35					0	0	0.080935	0	0
WDR49	151790	broad.mit.edu	37	3	167240197	167240197	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr3:167240197T>A	ENST00000308378.3	-	12	1929	c.1624A>T	c.(1624-1626)Aag>Tag	p.K542*	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Nonsense_Mutation_p.K367*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	542										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAAATTTCCTTTTGAATCTCA	0.318000													21	40					0	0	0.055883	0	0
BEST2	54831	broad.mit.edu	37	19	12866479	12866479	+	Silent	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:12866479C>T	ENST00000549706.1	+	7	1089	c.765C>T	c.(763-765)cgC>cgT	p.R255R	BEST2_ENST00000042931.1_Silent_p.R255R|BEST2_ENST00000553030.1_Silent_p.R255R			Q8NFU1	BEST2_HUMAN	bestrophin 2	255					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TCATTGGTCGCCAGTTCCTGG	0.607000													16	88					0	0	0.033300	0	0
CTD-2587H24.4	0	broad.mit.edu	37	19	55670685	55670685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr19:55670685G>A	ENST00000587871.1	-	4	354	c.355C>T	c.(355-357)Cca>Tca	p.P119S	DNAAF3_ENST00000524407.2_Silent_p.S457S|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Silent_p.S403S|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000391720.4_Silent_p.S504S|DNAAF3_ENST00000527223.2_Silent_p.S524S																							CTGATTCCTGGGACTTGCAGA	0.612000													9	51					0	0	0.058154	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114571	27114571	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr6:27114571C>T	ENST00000396891.4	-	1	48	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E3K	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	3					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTCGCTGGTTCCGGCATGTTG	0.567000													8	84					0	0	0.047766	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													4	26					0	0	0.029380	0	0
IPO13	9670	broad.mit.edu	37	1	44433123	44433123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:44433123G>A	ENST00000372343.3	+	19	3412	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	IPO13_ENST00000372339.3_Missense_Mutation_p.R135H	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	917					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)				CCCTCTGCCCGCCTCAGCCCT	0.617000													8	55					0	0	0.038147	0	0
ZNF215	7762	broad.mit.edu	37	11	6977595	6977595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:6977595C>T	ENST00000278319.5	+	7	1975	c.1387C>T	c.(1387-1389)Caa>Taa	p.Q463*	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.Q463*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	463					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAATTTCTATCAATGTGTTAA	0.398000													5	65					0	0	0.014758	0	0
MEN1	4221	broad.mit.edu	37	11	64572117	64572117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr11:64572117G>A	ENST00000337652.1	-	10	2040	c.1537C>T	c.(1537-1539)Cag>Tag	p.Q513*	MEN1_ENST00000315422.4_Nonsense_Mutation_p.Q508*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.Q513*|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Nonsense_Mutation_p.Q453*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.Q508*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.Q473*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.Q513*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.Q513*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.Q513*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.Q508*	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	513					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ACTGCACCCTGGCCGGTGCCC	0.736000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				3	32					0	0	0.009096	0	0
PRKCH	5583	broad.mit.edu	37	14	61952305	61952305	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:61952305G>A	ENST00000332981.5	+	10	1749	c.1364G>A	c.(1363-1365)cGa>cAa	p.R455Q	PRKCH_ENST00000555082.1_Missense_Mutation_p.R294Q	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	455	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GATGAAGCACGAGCTCGCTTC	0.433000													40	215					0	0	0.080422	0	0
UBE2J2	118424	broad.mit.edu	37	1	1191442	1191443	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:1191442_1191443delAT	ENST00000347370.2	-	6	794_795	c.321_322delAT	c.(319-324)ttttfs	p.LF107fs	UBE2J2_ENST00000400930.4_Frame_Shift_Del_p.LF175fs|UBE2J2_ENST00000400929.2_Frame_Shift_Del_p.LF107fs|UBE2J2_ENST00000349431.6_Frame_Shift_Del_p.LF159fs|UBE2J2_ENST00000360466.2_Frame_Shift_Del_p.LF159fs|UBE2J2_ENST00000348298.7_Frame_Shift_Del_p.LF107fs|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000339385.6_Frame_Shift_Del_p.LF124fs	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	159					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		ACTTCAGGAAATAATTCACAAA	0.401													16	100	---	---	---	---					
ODF2L	57489	broad.mit.edu	37	1	86850380	86850382	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr1:86850380_86850382delAAG	ENST00000359242.3	-	4	630_632	c.349_351delCTT	c.(349-351)del	p.L117del	ODF2L_ENST00000370567.1_In_Frame_Del_p.L117del|ODF2L_ENST00000294678.2_In_Frame_Del_p.L117del|ODF2L_ENST00000370566.3_In_Frame_Del_p.L117del|ODF2L_ENST00000317336.7_In_Frame_Del_p.L117del|ODF2L_ENST00000394731.1_5'UTR	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	117						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTCTCTTTCTAAGAAGATGTTCT	0.286													7	73	---	---	---	---					
FAM98A	25940	broad.mit.edu	37	2	33820638	33820638	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr2:33820638delG	ENST00000403368.1	-	2	189	c.120delC	c.(118-120)ccfs	p.P40fs	FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Frame_Shift_Del_p.P40fs	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	40										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TGGTAAACTCGGGGGAACTGG	0.448													10	105	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55221819	55221831	+	Frame_Shift_Del	DEL	GTGCCACCTGCGT	GTGCCACCTGCGT	-	rs149840192		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr7:55221819_55221831delGTGCCACCTGCGT	ENST00000275493.2	+	7	1040_1052	c.863_875delGTGCCACCTGCGT	c.(862-876)ggfs	p.GATCV288fs	EGFR_ENST00000420316.2_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000455089.1_Frame_Shift_Del_p.GATCV243fs|EGFR_ENST00000342916.3_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000442591.1_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000344576.2_Frame_Shift_Del_p.GATCV288fs|EGFR_ENST00000454757.2_Frame_Shift_Del_p.GATCV235fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	288					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(3)|p.A289D(3)|p.V292L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACAGCTTTGGTGCCACCTGCGTGAAGAAGTGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			8	318	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			9	119	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139824126	139824127	+	In_Frame_Ins	INS	-	-	GGTGGA			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr8:139824126_139824127insGGTGGA	ENST00000303045.6	-	9	1810_1811	c.1364_1365insTCCACC	c.(1363-1365)ccc>cTCCACCcc	p.454_455insLH	COL22A1_ENST00000435777.1_In_Frame_Ins_p.454_455insLH	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	454	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCTGGGGTGGGGGTGGAGGTGG	0.599										HNSCC(7;0.00092)			3	6	---	---	---	---					
RASSF8	11228	broad.mit.edu	37	12	26217656	26217656	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr12:26217656delC	ENST00000405154.2	+	3	528	c.329delC	c.(328-330)gtfs	p.A110fs	RASSF8_ENST00000542865.1_Frame_Shift_Del_p.A110fs|RASSF8_ENST00000541490.1_Frame_Shift_Del_p.A110fs|RASSF8_ENST00000381352.3_Frame_Shift_Del_p.A110fs|RASSF8_ENST00000282884.9_Frame_Shift_Del_p.A110fs	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	110					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CCCCCCTTAGCTAAACTGAGG	0.468													12	122	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													11	5	---	---	---	---					
SORD2P	653381	broad.mit.edu	37	15	45123910	45123910	+	RNA	DEL	A	A	-			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr15:45123910delA	ENST00000561384.2	-	0	726																											ATCTGAAGGTAAAAAAAAAAA	0.418													2	4	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													4	4	---	---	---	---					
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs140689079		TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggc>gg	p.GD14del	POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	14					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)					2	4	---	---	---	---					
WNK3	65267	broad.mit.edu	37	X	54263432	54263434	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-CV-7236-01A-11D-2012-08	TCGA-CV-7236-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc220a9d-1f16-4fe3-8196-d837a909f038	360144da-2c0b-4e18-81b5-5dde9d7a3682	g.chrX:54263432_54263434delCAC	ENST00000354646.2	-	20	5003_5005	c.4565_4567delGTG	c.(4564-4569)aat>a	p.SD1522del	WNK3_ENST00000375159.2_In_Frame_Del_p.SD1522del|WNK3_ENST00000375169.3_In_Frame_Del_p.SD1475del	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1475					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GATTCATCATCACTGCTCATTGG	0.433													34	240	---	---	---	---