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
SYT11	23208	broad.mit.edu	37	1	155851027	155851027	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:155851027C>T	ENST00000368324.4	+	4	1277	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	SYT11_ENST00000539162.1_Missense_Mutation_p.R35C	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	342	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CGGCAGAAAGCGCATTGCCAA	0.468000													26	233					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038567	75038567	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:75038567C>T	ENST00000326665.5	-	14	3045	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	943	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCACTTTCTCCGACATCACTC	0.547000													10	130					0	0	1	0	0
IFT27	11020	broad.mit.edu	37	22	37163883	37163883	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr22:37163883C>T	ENST00000340630.5	-	2	500	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	IFT27_ENST00000433985.2_Missense_Mutation_p.A20T|IFT27_ENST00000453009.2_5'UTR	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	20					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCCAGGGCGGTCTTGCCC	0.512000													13	218					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899740	233899740	+	Silent	SNP	C	C	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr2:233899740C>A	ENST00000233840.3	+	2	1116	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	372							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TGAAGCAAGCCTTCCCAGCTG	0.597000													7	136					5.18039e-06	5.68172e-06	1	1	0
USP48	84196	broad.mit.edu	37	1	22074643	22074643	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:22074643A>C	ENST00000308271.9	-	7	1544	c.896T>G	c.(895-897)tTt>tGt	p.F299C	USP48_ENST00000421625.2_Missense_Mutation_p.F299C|USP48_ENST00000400301.1_Missense_Mutation_p.F299C|USP48_ENST00000529637.1_Missense_Mutation_p.F299C	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	299					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GTCAAAGACAAAACGCATTAG	0.368000													3	47					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276820	152276820	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:152276820G>C	ENST00000368799.1	-	3	10577	c.10542C>G	c.(10540-10542)gaC>gaG	p.D3514E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3514	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTAGAGCTGTCCGCCTGAG	0.567000									Ichthyosis				15	281					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161480636	161480636	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:161480636G>T	ENST00000271450.6	+	5	670	c.632G>T	c.(631-633)gGc>gTc	p.G211V	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.G210V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	211						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGCATGGGCAGCTCTTCA	0.512000													7	114					0.0293803	0.0293803	1	1	0
RBM17	84991	broad.mit.edu	37	10	6157238	6157238	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr10:6157238T>C	ENST00000446108.1	+	11	1710	c.1066T>C	c.(1066-1068)Ttt>Ctt	p.F356L	RBM17_ENST00000379888.4_Missense_Mutation_p.F356L|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	356	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGTACGGATATTTTTAGAATT	0.343000													3	24					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106992	186106992	+	Silent	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:186106992C>T	ENST00000271588.4	+	89	14041	c.13812C>T	c.(13810-13812)cgC>cgT	p.R4604R	HMCN1_ENST00000367492.2_Silent_p.R4604R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4604	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4604R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGTGGACGCGGCAACCAAA	0.463000													5	95					0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31189120	31189120	+	Silent	SNP	G	G	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:31189120G>A	ENST00000373765.4	-	5	878	c.843C>T	c.(841-843)gaC>gaT	p.D281D	MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	281	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGGATCCGTCAATGAGGA	0.557000													4	45					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100970983	100970983	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr9:100970983T>G	ENST00000375066.5	-	9	2208	c.2117A>C	c.(2116-2118)aAc>aCc	p.N706T	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.N488T|TBC1D2_ENST00000375064.1_Missense_Mutation_p.N706T|TBC1D2_ENST00000375063.1_Missense_Mutation_p.N246T	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	706	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GATGGTGGGGTTCTGCCAGGA	0.602000													4	49					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47850144	47850144	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr20:47850144C>T	ENST00000371764.4	+	11	1273	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	422	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAATCCTGTCCGGATATTTGT	0.547000													8	174					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	32					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													5	34					0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25314511	25314511	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr4:25314511T>C	ENST00000302874.4	+	1	104	c.80T>C	c.(79-81)gTg>gCg	p.V27A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	27							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGAATGGAGGTGGTGCTTCCT	0.672000											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	100					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													4	28					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19576172	19576172	+	Silent	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr19:19576172C>T	ENST00000404158.1	+	4	436	c.18C>T	c.(16-18)tgC>tgT	p.C6C	GATAD2A_ENST00000252577.5_Silent_p.C6C|GATAD2A_ENST00000358713.3_Silent_p.C6C|GATAD2A_ENST00000360315.3_Silent_p.C6C|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000494516.1_3'UTR			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	6					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGAAGCATGCCGAACACGGA	0.473000													4	49					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41582116	41582116	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr17:41582116G>A	ENST00000262415.3	+	12	1723	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R	DHX8_ENST00000540306.1_Missense_Mutation_p.G551R	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	551						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGCCTCTTACGGAAAAAAGAC	0.478000													9	118					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38082185	38082185	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:38082185G>A	ENST00000356545.2	-	5	1044	c.257C>T	c.(256-258)gCc>gTc	p.A86V	RSPO1_ENST00000401070.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401071.2_Missense_Mutation_p.A86V|RSPO1_ENST00000373059.1_Missense_Mutation_p.A59V|RSPO1_ENST00000401068.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401069.1_Missense_Mutation_p.A86V	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	86					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGTTGCGGGCGTCGAAGTA	0.612000													5	68					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46724668	46724668	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr22:46724668G>A	ENST00000454366.1	+	10	2020	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	584					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTCCTTCCCGTGTGCCTCAG	0.517000													4	111					0	0	1	0	0
EPO	2056	broad.mit.edu	37	7	100320666	100320666	+	Silent	SNP	T	T	G			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr7:100320666T>G	ENST00000252723.2	+	5	673	c.492T>G	c.(490-492)acT>acG	p.T164T		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	164					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CTGCTGACACTTTCCGCAAAC	0.572000													7	149					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162555	90162555	+	RNA	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr16:90162555C>T	ENST00000564451.1	+	0	1908				TUBB8P7_ENST00000567960.1_RNA																							ATGCCACGGCCGAGGAGGAGG	0.522000													4	95					0	0	1	0	0
INTS4L1	0	broad.mit.edu	37	7	64639752	64639752	+	RNA	SNP	A	A	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr7:64639752A>T	ENST00000587624.1	+	0	635																											TTGATTTCCTAGTTGACATGT	0.443000													3	5					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													7	38					0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128268595	128268595	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr9:128268595C>G	ENST00000265960.3	-	8	1392	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E162Q|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E162Q	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	354					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GTACTGTTCTCGCGGACCAGG	0.577000													3	53					0	0	1	0	0
HYAL1	3373	broad.mit.edu	37	3	50340316	50340316	+	Silent	SNP	G	G	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr3:50340316G>T	ENST00000266031.4	-	1	687	c.72C>A	c.(70-72)ggC>ggA	p.G24G	HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G24G|HYAL1_ENST00000320295.8_Silent_p.G24G|HYAL1_ENST00000395143.2_Silent_p.G24G|HYAL1_ENST00000457214.2_Intron			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	24						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GTAGCAAGGGGCCCCTAAAGC	0.612000													4	53					0.000602214	0.000620463	1	1	0
WASH3P	0	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372																		p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647000													3	44					0.000602214	0.000620463	1	1	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	32					0	0	1	0	0
PCDHB15	0	broad.mit.edu	37	5	140626461	140626461	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr5:140626461G>A	ENST00000231173.3	+	1	1315	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		439	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCATAACCGTGCTGGTGTC	0.592000													7	133					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	32					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237991726	237991726	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:237991726delA	ENST00000366574.2	+	102	14953	c.14636delA	c.(14635-14637)cafs	p.Q4879fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.Q4863fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.Q4885fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4879					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACAGGAACAAGTCAAAGAA	0.363													2	4	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498122	89498122	+	RNA	DEL	A	A	-			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr8:89498122delA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							aacagctatgaaaaaaaaaac	0.383													2	4	---	---	---	---					
