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	uc001fmg.3	+	3	1317	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	SYT11_uc010pgq.2_Missense_Mutation_p.R35C	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	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	uc001dgg.3	-	13	3046	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	943	Glu-rich.							p.V942V(1)		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	uc003apv.2	-	1	479	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	IFT27_uc021won.1_5'UTR|IFT27_uc003apu.2_Missense_Mutation_p.A19T|IFT27_uc003apw.2_Missense_Mutation_p.A20T|IFT27_uc010gwy.2_Missense_Mutation_p.A20T	NM_001177701	NP_001171173	Q9BW83	IFT27_HUMAN	Homo sapiens intraflagellar transport 27 homolog (Chlamydomonas) (IFT27), transcript variant 1, mRNA.	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	uc010zmn.2	+	1	1116	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	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					0	0	1	0	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	uc010odq.2	-	6	1134	c.896T>G	c.(895-897)tTt>tGt	p.F299C	USP48_uc001bfb.3_Missense_Mutation_p.F299C|USP48_uc009vqc.3_Missense_Mutation_p.F299C|USP48_uc001bfc.3_Missense_Mutation_p.F299C|USP48_uc001bfe.1_Missense_Mutation_p.F299C|USP48_uc001bff.3_Missense_Mutation_p.F299C	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	299					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R298H(1)		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	uc001ezu.1	-	2	10578	c.10542C>G	c.(10540-10542)gaC>gaG	p.D3514E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3514	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A3513A(1)		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	uc001gan.3	+	4	685	c.632G>T	c.(631-633)gGc>gTc	p.G211V	FCGR2A_uc001gam.3_Missense_Mutation_p.G210V|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	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	0	1	0	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	uc001ijb.3	+	10	1292	c.1066T>C	c.(1066-1068)Ttt>Ctt	p.F356L	RBM17_uc010qav.2_Missense_Mutation_p.F356L|RBM17_uc001ijc.3_Non-coding_Transcript	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.	356	RRM.				RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein 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	uc001grq.1	+	88	14041	c.13812C>T	c.(13810-13812)cgC>cgT	p.R4604R	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.R173R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4604	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4604R(2)		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	uc001brz.3	-	4	877	c.843C>T	c.(841-843)gaC>gaT	p.D281D	LOC100129196_uc001bsb.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	Homo sapiens matrilin 1, cartilage matrix protein (MATN1), mRNA.	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	uc011lvb.2	-	8	2297	c.2117A>C	c.(2116-2118)aAc>aCc	p.N706T	TBC1D2_uc004ayp.3_Missense_Mutation_p.N246T|TBC1D2_uc004ayq.3_Missense_Mutation_p.N706T|TBC1D2_uc004ayr.3_Missense_Mutation_p.N488T	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	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	uc002xuh.3	+	10	1325	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	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
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	uc002hvu.3	-	0	310	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	Homo sapiens keratin associated protein 1-5 (KRTAP1-5), mRNA.	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(22)		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	uc003grl.4	+	0	116	c.80T>C	c.(79-81)gTg>gCg	p.V27A		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	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	149992	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	uc002yiy.3	+	1		c.339G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		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	uc010xqt.2	+	1	330	c.18C>T	c.(16-18)tgC>tgT	p.C6C	GATAD2A_uc010xqu.2_5'UTR|GATAD2A_uc010xqv.2_Silent_p.C25C|GATAD2A_uc010xqw.2_5'UTR	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	6					DNA methylation|negative regulation of transcription, DNA-dependent	NuRD complex|nuclear speck	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	uc002idu.1	+	11	1723	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R	DHX8_uc010wif.1_Missense_Mutation_p.G460R|DHX8_uc010wig.2_Missense_Mutation_p.G551R	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	551						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	p.Y550Y(1)		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	uc001cbl.2	-	4	1149	c.257C>T	c.(256-258)gCc>gTc	p.A86V	RSPO1_uc009vvf.2_Missense_Mutation_p.A59V|RSPO1_uc001cbm.2_Missense_Mutation_p.A86V|RSPO1_uc009vvg.2_Missense_Mutation_p.A86V	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	86					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	p.A86A(1)		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	uc011aqy.2	+	9	2020	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H	GTSE1_uc011aqz.2_Missense_Mutation_p.R450H|GTSE1_uc003bhm.1_Missense_Mutation_p.R228H|GTSE1_uc003bhn.3_5'Flank|BC069212_uc011ara.2_5'Flank|BC069212_uc003bho.4_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	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	uc003uwi.3	+	4	673	c.492T>G	c.(490-492)acT>acG	p.T164T	EPO_uc011kkc.1_Silent_p.T163T	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	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 DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|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
INTS4L1	285905	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	uc003ttw.3	+	4		c.635A>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		TTGATTTCCTAGTTGACATGT	0.443000													3	5					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	uc004bpv.3	-	7	1393	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	MAPKAP1_uc011lzt.2_Missense_Mutation_p.E157Q|MAPKAP1_uc010mwz.3_Intron|MAPKAP1_uc011lzu.2_Missense_Mutation_p.E162Q|MAPKAP1_uc011lzv.2_Intron|MAPKAP1_uc004bpw.3_Missense_Mutation_p.E162Q|MAPKAP1_uc004bpx.3_Missense_Mutation_p.E162Q|MAPKAP1_uc004bpy.3_Intron|MAPKAP1_uc004bpz.3_Missense_Mutation_p.E354Q|MAPKAP1_uc010mxa.3_Non-coding_Transcript|MAPKAP1_uc010mxb.1_Missense_Mutation_p.E157Q	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 1, mRNA.	354					T cell costimulation|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress	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	uc003czp.3	-	1	204	c.72C>A	c.(70-72)ggC>ggA	p.G24G	HYAL1_uc003czm.3_Intron|HYAL1_uc003czo.3_Intron|HYAL1_uc003czq.3_Silent_p.G24G|HYAL1_uc003czr.3_Silent_p.G24G|HYAL1_uc003czn.3_Intron|HYAL1_uc003czs.3_Silent_p.G24G|HYAL1_uc003czt.3_Silent_p.G24G	NM_033159	NP_695015	Q12794	HYAL1_HUMAN	Homo sapiens hyaluronoglucosaminidase 1 (HYAL1), transcript variant 7, mRNA.	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	0	1	0	0
PCDHB15	56121	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	uc003lje.3	+	0	1315	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	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	149992	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	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		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	uc001hyl.1	+	101	14756	c.14636delA	c.(14635-14637)caafs	p.Q4879fs	RYR2_uc010pyb.1_Frame_Shift_Del_p.Q312fs	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	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	---	---	---	---					
