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
ODZ2	57451	broad.mit.edu	37	5	167420177	167420177	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:167420177G>A	uc010jjd.3	+	4	1176	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	ODZ2_uc021yhi.1_Silent_p.A322A|ODZ2_uc003lzq.2_Silent_p.A271A|ODZ2_uc003lzr.4_Silent_p.A201A	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTTTGCTGGCGTATTTCATAG	0.537000													4	47					0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67876808	67876808	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:67876808G>A	uc002euo.3	+	0	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_uc002eun.4_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	Homo sapiens THAP domain containing 11 (THAP11), mRNA.	117	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	p.Q116Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667000													3	62					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43912679	43912679	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:43912679G>A	uc001cjk.2	+	64	9039	c.6429G>A	c.(6427-6429)gtG>gtA	p.V2143V	SZT2_uc001cjl.2_Silent_p.V131V	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	3042						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGATGCACGTGCACTCGTTCA	0.597000													3	43					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:39274416C>T	uc002hvz.3	-	0	191	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)|p.R51K(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													4	106					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58017987	58017987	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:58017987A>G	uc002qox.3	+	3	664	c.524A>G	c.(523-525)cAt>cGt	p.H175R	ZNF773_uc002qoy.3_Missense_Mutation_p.H174R|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAGAAGTCACATAGGAGCTCC	0.468000													7	16					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000													4	71					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68305256	68305256	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:68305256C>A	uc001onv.3	+	2	391	c.124C>A	c.(124-126)Cgc>Agc	p.R42S	PPP6R3_uc010rqb.1_Intron|PPP6R3_uc001onw.3_Missense_Mutation_p.R42S|PPP6R3_uc001ony.4_Missense_Mutation_p.R42S|PPP6R3_uc001onx.3_Missense_Mutation_p.R42S|PPP6R3_uc009ysh.3_Missense_Mutation_p.R42S|PPP6R3_uc001onu.3_Missense_Mutation_p.R42S|PPP6R3_uc010rqc.2_Intron	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	42					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGCTCAGAACCGCAAACTTAT	0.368000													3	58					0	0	1	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456028	30456028	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30456028T>C	uc021tgl.1	-	0	1197	c.1021A>G	c.(1021-1023)Att>Gtt	p.I341V	SEPHS2_uc002dyh.1_Missense_Mutation_p.I284V	NM_012248		Q99611	SPS2_HUMAN	Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA.	341					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGATTATGAATAACAAAGGAC	0.473000													4	64					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30522404	30522404	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30522404C>G	uc002dyi.4	+	23	2909	c.2733C>G	c.(2731-2733)aaC>aaG	p.N911K	ITGAL_uc002dyj.4_Missense_Mutation_p.N827K|ITGAL_uc010vev.2_Missense_Mutation_p.N145K	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	911					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGGAGGACAACTCAGCCACTA	0.567000													18	163					0	0	1	0	0
CCNB1	891	broad.mit.edu	37	5	68470883	68470883	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:68470883T>C	uc003jvm.3	+	5	1138	c.885T>C	c.(883-885)ttT>ttC	p.F295F	CCNB1_uc010ixb.3_Silent_p.F295F	NM_031966	NP_114172	P14635	CCNB1_HUMAN	Homo sapiens cyclin B1 (CCNB1), mRNA.	295					G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTTAAACTTTGGTCTGGGTC	0.438000													6	127					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4366548	4366548	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:4366548G>A	uc002maj.3	-	2	337	c.137C>T	c.(136-138)gCg>gTg	p.A46V	SH3GL1_uc002mak.3_Missense_Mutation_p.A46V|SH3GL1_uc010xig.2_Missense_Mutation_p.A46V	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	46	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTCTGTCACCGCCTTGCTGGT	0.642000			T	MLL	AL								3	26					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572701	140572701	+	Silent	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:140572701A>G	uc003lix.3	+	0	750	c.576A>G	c.(574-576)ccA>ccG	p.P192P		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATATATCCAGAGCTAGTGT	0.502000													79	174					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237796915	237796915	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:237796915G>A	uc001hyl.1	+	42	6713	c.6593G>A	c.(6592-6594)cGt>cAt	p.R2198H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2198	4 X approximate repeats.				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)			AACTGTTGCCGTTTTCTCTGT	0.388000													49	130					0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64872761	64872761	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:64872761G>A	uc003jtv.4	+	5	1032	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PPWD1_uc011cqv.2_Missense_Mutation_p.R312Q|PPWD1_uc011cqw.2_Missense_Mutation_p.R186Q	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	342					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GAATTTGGCCGACGAATGGCT	0.368000													16	127					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295352	29295352	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:29295352C>T	uc002rmt.2	-	0	1776	c.1776G>A	c.(1774-1776)acG>acA	p.T592T		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	592					response to stimulus|visual perception	photoreceptor outer segment		p.T592T(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGGACCTCGTCTGCCTCT	0.632000													9	61					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844942	18844942	+	RNA	SNP	C	C	T	rs142948957	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr22:18844942C>T	uc002zoe.3	+	3		c.2196C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCATCATCACCGACACGTCCT	0.567000													19	24					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr9:41962602G>T	uc004aca.4	-	2		c.907C>A								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTCTTTCTTTGTTTTTTTTCC	0.373000													6	47					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4042212	4042212	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:4042212C>T	uc002cvx.3	-	4	2681	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	714					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAACCTCAGCGGAAGGAGAG	0.537000													4	91					0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417391	150417391	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:150417391A>C	uc003whq.3	+	2	439	c.299A>C	c.(298-300)gAg>gCg	p.E100A	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.E100A	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGCTGTGAGGAGAGAGGTCAC	0.647000													8	70					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105900659	105900659	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:105900659A>G	uc001kxw.3	-	33	4488	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H	WDR96_uc009xxq.3_Missense_Mutation_p.Y737H	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1458										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCATCAGAATACTCCAGTACT	0.318000													12	29					0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906720	42906720	+	Silent	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:42906720C>A	uc003cme.3	+	2	904	c.726C>A	c.(724-726)ccC>ccA	p.P242P	CCBP2_uc003cmf.3_Silent_p.P242P|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.P242P	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	242					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GGCTGAGGCCCGCAGGCCAGG	0.537000													4	167					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83290	83290	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chrGL000219.1:83290C>T	uc022brb.1	-	3	377	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		ATAAAGCAGCCATTTGAGGCC	0.363000													3	19					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703830	7703830	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:7703830G>A	uc002cys.2	+	11	1759	c.771G>A	c.(769-771)ccG>ccA	p.P257P	RBFOX1_uc010buf.1_Silent_p.P257P|RBFOX1_uc002cyr.1_Silent_p.P256P|RBFOX1_uc002cyt.2_Silent_p.P230P|RBFOX1_uc010uxz.1_Silent_p.P300P|RBFOX1_uc010uya.1_Silent_p.P214P|RBFOX1_uc002cyv.1_Silent_p.P257P|RBFOX1_uc010uyb.1_Silent_p.P257P|RBFOX1_uc002cyw.2_Silent_p.P277P|RBFOX1_uc002cyy.2_Silent_p.P277P|RBFOX1_uc002cyx.2_Silent_p.P277P|RBFOX1_uc010uyc.1_Silent_p.P250P	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	257					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGGCTTCCCGTATCCAGCAG	0.701000													4	47					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97618049	97618049	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:97618049G>C	uc003drx.3	+	10	2133	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S	CRYBG3_uc021xbn.1_Missense_Mutation_p.C690S					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAATACAAATGCTTTTTTGAC	0.358000													25	50					0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983609	142983609	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:142983609C>T	uc003wcl.3	+	4	592	c.338C>T	c.(337-339)cCc>cTc	p.P113L	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|TMEM139_uc022aoc.1_Missense_Mutation_p.P113L|TMEM139_uc010lov.3_Missense_Mutation_p.P113L|TMEM139_uc003wck.4_Missense_Mutation_p.P113L|TMEM139_uc003wcn.3_5'UTR|TMEM139_uc022aod.1_5'UTR|TMEM139_uc003wcm.3_Missense_Mutation_p.P113L	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	113						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAACCACCCCCCTACAGCACT	0.577000													50	100					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53238345	53238345	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:53238345T>G	uc001sbc.1	-	4	983	c.919A>C	c.(919-921)Aag>Cag	p.K307Q		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	307	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACCACCTTGGTCTGGTAC	0.617000													35	111					0	0	1	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806651	27806651	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:27806651T>G	uc003nju.1	+	0	273	c.212T>G	c.(211-213)tTc>tGc	p.F71C	HIST1H2AK_uc003njs.3_5'Flank|HIST1H2BN_uc003njt.1_Non-coding_Transcript|HIST1H2BN_uc003njv.3_Missense_Mutation_p.F71C	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	Homo sapiens histone cluster 1, H2bn (HIST1H2BN), mRNA.	71					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AATGACATCTTCGAGCGCATC	0.607000													81	168					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587260	55587260	+	Silent	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:55587260G>C	uc010qhy.1	-	32	4670	c.4275C>G	c.(4273-4275)ccC>ccG	p.P1425P	PCDH15_uc010qhq.2_Silent_p.P1425P|PCDH15_uc010qhr.2_Silent_p.P1420P|PCDH15_uc021pqv.1_Silent_p.P1420P|PCDH15_uc021pqw.1_Silent_p.P1432P|PCDH15_uc010qht.2_Silent_p.P1427P|PCDH15_uc021pqx.1_Silent_p.P1420P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.P1420P|PCDH15_uc021pqz.1_Silent_p.P1395P|PCDH15_uc010qhv.1_Silent_p.P1417P|PCDH15_uc010qhw.1_Silent_p.P1380P|PCDH15_uc010qhx.1_Silent_p.P1349P|PCDH15_uc010qhz.1_Silent_p.P1420P|PCDH15_uc010qia.1_Silent_p.P1398P|PCDH15_uc001jju.1_Silent_p.P1420P|PCDH15_uc010qib.1_Silent_p.P1395P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1420					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1425G(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTAGCCGCGGGTAATGCGG	0.547000										HNSCC(58;0.16)			27	87					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110383093	110383093	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:110383093G>T	uc001tps.2	-	15	1868	c.1703C>A	c.(1702-1704)tCc>tAc	p.S568Y	TCHP_uc001tpo.1_Intron|GIT2_uc001tpq.2_Intron|GIT2_uc001tpv.2_Intron|GIT2_uc001tpu.2_Intron|GIT2_uc001tpt.2_Intron|GIT2_uc010sxu.1_Intron	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	568					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCTCGACCAGGAAAGTGTGGA	0.547000													14	25					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55582770	55582770	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:55582770G>C	uc002ryv.2	-	7	1587	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CCDC88A_uc010ypa.1_Missense_Mutation_p.L249V|CCDC88A_uc010yoz.1_Missense_Mutation_p.L249V|CCDC88A_uc010ypb.1_Missense_Mutation_p.L151V	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	249					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.L249P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCACCGACAGATGTTGTCGA	0.463000													34	53					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:71347033C>T	uc011cat.2	+	3	860	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_uc011cau.2_Missense_Mutation_p.A191V|MUC7_uc003hfj.3_Missense_Mutation_p.A191V	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	191	Thr-rich.					extracellular region	protein binding	p.A191V(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587000													4	227					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530551	97530551	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:97530551A>G	uc002sxg.4	-	6	1243	c.1012T>C	c.(1012-1014)Tgc>Cgc	p.C338R	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Missense_Mutation_p.C285R	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	285	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGCAGAGCATGCCAGCCGC	0.632000													4	61					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176016426	176016426	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:176016426C>A	uc021yie.1	+	22	3378	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N	CDHR2_uc003mem.2_Missense_Mutation_p.T1035N|CDHR2_uc003men.1_Missense_Mutation_p.T1035N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1035	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGAAGCCACCACCACCCTG	0.652000													6	111					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415596	44415596	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44415596T>G	uc001ckx.3	+	1	1387	c.592T>G	c.(592-594)Tgt>Ggt	p.C198G		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	198					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)				GGCGGTGGAATGTGGGGCTGT	0.622000													3	16					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48551612	48551612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:48551612C>T	uc003gyh.1	-	38	5267	c.4662G>A	c.(4660-4662)tgG>tgA	p.W1554*	FRYL_uc003gyg.1_Nonsense_Mutation_p.W250*|FRYL_uc003gyi.1_Nonsense_Mutation_p.W443*|FRYL_uc003gyj.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1554					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTTCAGTCGCCAATTAGAAT	0.438000													28	53					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137520549	137520549	+	Silent	SNP	G	G	A	rs114549959	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:137520549G>A	uc003lcj.3	+	13	2233	c.1737G>A	c.(1735-1737)caG>caA	p.Q579Q	KIF20A_uc011cyo.2_Silent_p.Q561Q	NM_005733	NP_005724	O95235	KI20A_HUMAN	Homo sapiens kinesin family member 20A (KIF20A), mRNA.	579					M phase of mitotic cell cycle|cytokinesis|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGAACGACAGGAAAAGCTAC	0.488000													33	88					0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	734790	734790	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:734790G>C	uc002ciz.1	-	8	3077	c.2317C>G	c.(2317-2319)Ctg>Gtg	p.L773V	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	903										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTGCCTTCCAGCCACTTCATG	0.677000													3	9					0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43355879	43355879	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:43355879G>A	uc002xmp.3	+	3	831	c.684G>A	c.(682-684)caG>caA	p.Q228Q	LOC79015_uc002xml.1_Intron|WISP2_uc002xmq.3_Missense_Mutation_p.S146N	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	228	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				TGGAGACCCAGCGCCGCCTGT	0.672000													16	27					0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447026	17447026	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:17447026G>A	uc003wxr.3	+	2	550	c.105G>A	c.(103-105)gaG>gaA	p.E35E		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	35						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AACCAGGAGAGAATAGAATCA	0.433000													16	161					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70978696	70978696	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:70978696T>C	uc003xym.3	-	4	1159	c.957A>G	c.(955-957)ggA>ggG	p.G319G		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	319	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCCCGTACCTCCTTTTCCAT	0.403000													3	181					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24885670	24885670	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:24885670C>A	uc001isb.2	-	17	3964	c.3477_splice	c.e17+1	p.R1159_splice	ARHGAP21_uc010qdb.1_Splice_Site|ARHGAP21_uc009xkl.1_Splice_Site_p.R1159_splice	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1158	Rho-GAP.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTCTCCTACCCGATTAGTATG	0.443000													3	112					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587261	55587261	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:55587261G>T	uc010qhy.1	-	32	4669	c.4274C>A	c.(4273-4275)cCc>cAc	p.P1425H	PCDH15_uc010qhq.2_Missense_Mutation_p.P1425H|PCDH15_uc010qhr.2_Missense_Mutation_p.P1420H|PCDH15_uc021pqv.1_Missense_Mutation_p.P1420H|PCDH15_uc021pqw.1_Missense_Mutation_p.P1432H|PCDH15_uc010qht.2_Missense_Mutation_p.P1427H|PCDH15_uc021pqx.1_Missense_Mutation_p.P1420H|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1420H|PCDH15_uc021pqz.1_Missense_Mutation_p.P1395H|PCDH15_uc010qhv.1_Missense_Mutation_p.P1417H|PCDH15_uc010qhw.1_Missense_Mutation_p.P1380H|PCDH15_uc010qhx.1_Missense_Mutation_p.P1349H|PCDH15_uc010qhz.1_Missense_Mutation_p.P1420H|PCDH15_uc010qia.1_Missense_Mutation_p.P1398H|PCDH15_uc001jju.1_Missense_Mutation_p.P1420H|PCDH15_uc010qib.1_Missense_Mutation_p.P1395H	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1420					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1425G(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTAGCCGCGGGTAATGCGGC	0.547000										HNSCC(58;0.16)			28	85					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198352	52198352	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:52198352C>T	uc002xwq.4	-	0	1356	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	ZNF217_uc010gij.1_Silent_p.K330K	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	338					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CACAACTGCCCTTATTTGTTT	0.542000													14	112					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113249577	113249577	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:113249577A>G	uc003ynu.3	-	67	10628	c.10469_splice	c.e67-1	p.V3490_splice	CSMD3_uc003yns.3_Splice_Site_p.V2692_splice|CSMD3_uc003ynt.3_Splice_Site_p.V3450_splice|CSMD3_uc011lhx.2_Splice_Site_p.V3321_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3490						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATCAGGAACTGTGAATAG	0.284000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	43					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74360045	74360045	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr9:74360045C>A	uc011lsa.1	-	3	1463	c.923G>T	c.(922-924)cGg>cTg	p.R308L	TMEM2_uc010mos.2_Missense_Mutation_p.R308L|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	308						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGCAACAATCCGACCTGGATC	0.488000													3	116					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44100335	44100335	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:44100335G>T	uc009yks.1	+	9	977	c.833_splice	c.e9+1	p.R278_splice	EXT2_uc010rfo.2_Intron|ACCS_uc010rfm.1_3'UTR|ACCS_uc001mxx.2_Splice_Site_p.R278_splice	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	278							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.?(2)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTGCCAAGAGGTGAGGCACCC	0.577000													11	27					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	Missense_Mutation	SNP	A	A	G	rs147132093		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:53958879A>G	uc010eqp.3	+	6	1576	c.1118A>G	c.(1117-1119)cAt>cGt	p.H373R	ZNF761_uc010ydy.2_Missense_Mutation_p.H319R|ZNF761_uc002qbt.2_Missense_Mutation_p.H319R	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCATAGACTTCAT	0.428000													5	254					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32543932	32543932	+	Silent	SNP	A	A	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr9:32543932A>C	uc003zrb.3	-	2	783	c.591T>G	c.(589-591)ggT>ggG	p.G197G	TOPORS_uc003zrc.3_Silent_p.G132G	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	197	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGTTCACAGGACCACTAGGTG	0.443000													7	58					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:111397722C>T	uc003iab.4	+	0	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	51					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)	GACGGCGGGCCGGGCACTGCG	0.647000													4	149					0	0	1	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149773804	149773804	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:149773804G>T	uc010kid.3	-	4	1005	c.735C>A	c.(733-735)ttC>ttA	p.F245L		NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	245						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCCTGCTCAGGAAGTTGCTCA	0.612000													4	15					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:248403030C>T	uc010pzh.2	+	0	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T267M(4)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517000													12	93					0	0	1	0	0
UST	10090	broad.mit.edu	37	6	149262511	149262511	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:149262511G>A	uc003qmg.3	+	2	684	c.388G>A	c.(388-390)Gga>Aga	p.G130R		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.	130					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGAGAAGCACGGATTTAATTT	0.433000													56	136					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44221065	44221065	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:44221065A>G	uc003oxa.1	+	10	2099	c.2015A>G	c.(2014-2016)gAt>gGt	p.D672G	HSP90AB1_uc011dvr.1_Missense_Mutation_p.D662G|HSP90AB1_uc003oxb.1_Missense_Mutation_p.D672G|HSP90AB1_uc011dvs.1_Missense_Mutation_p.D492G|HSP90AB1_uc003oxc.1_Missense_Mutation_p.D310G	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	672					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCCTTGAGGATCCCCAGACC	0.522000													6	454					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328827	57328827	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:57328827G>T	uc002qnu.2	-	6	1334	c.983C>A	c.(982-984)tCg>tAg	p.S328*	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.S299*|PEG3_uc002qnv.2_Nonsense_Mutation_p.S328*|PEG3_uc002qnw.2_Nonsense_Mutation_p.S204*|PEG3_uc002qnx.2_Nonsense_Mutation_p.S202*|PEG3_uc010etr.2_Nonsense_Mutation_p.S328*	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	328					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S328*(3)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCTCTTCCCGATTTGGAACT	0.473000													3	89					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51561829	51561829	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:51561829G>A	uc002pvn.3	-	3	654	c.611C>T	c.(610-612)gCc>gTc	p.A204V	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Missense_Mutation_p.A131V|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Missense_Mutation_p.A52V	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	204	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTTTGTGCCGGCACACAACAT	0.512000													4	233					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835445	172835445	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:172835445T>C	uc003fin.4	-	1	261	c.77A>G	c.(76-78)aAc>aGc	p.N26S		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	26					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTGCTTGTGTTTATCTTTGG	0.433000													7	198					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735947	13735947	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:13735947T>C	uc003jfd.2	-	66	11592	c.11550A>G	c.(11548-11550)ttA>ttG	p.L3850L	DNAH5_uc003jfc.2_Silent_p.L18L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3850					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGTCAAATAAGCCCAGAA	0.453000									Kartagener syndrome				6	142					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104041395	104041395	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:104041395C>T	uc003hxb.1	-	43	7329	c.7239G>A	c.(7237-7239)gtG>gtA	p.V2413V	CENPE_uc003hxc.1_Silent_p.V2292V	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2413	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTCATTAGTCACCTCAAGTT	0.323000													5	18					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523995	23523995	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr22:23523995A>G	uc002zww.3	+	0	1444	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	BCR_uc002zwx.3_Missense_Mutation_p.Y283C	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	283	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CAGAGCATCTACGTCGGGGGC	0.657000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								8	36					0	0	1	0	0
ATP6V0B	533	broad.mit.edu	37	1	44442867	44442867	+	Silent	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44442867G>C	uc001clf.3	+	5	1332	c.429G>C	c.(427-429)ggG>ggC	p.G143G	ATP6V0B_uc001cld.3_Silent_p.G190G|ATP6V0B_uc001cle.3_Silent_p.G143G|B4GALT2_uc001clg.3_5'Flank|B4GALT2_uc001clh.3_5'Flank|B4GALT2_uc010okl.2_5'Flank			Q99437	VATO_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b (ATP6V0B), transcript variant 1, mRNA.	190					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCTCTTTGGGGTCATCGTCG	0.557000													26	82					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973826	69973826	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:69973826C>A	uc003heg.4	+	4	1142	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	UGT2B7_uc010ihq.3_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	366					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTAGGTCATCCAAAGACCAG	0.418000													23	82					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43209630	43209630	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:43209630C>T	uc002iib.3	-	0	262	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	ACBD4_uc010wjj.2_5'Flank	NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	50					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	TTCTTCAGCGCCCGCAGCCCG	0.741000													3	14					0	0	1	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	G	A	rs114681793	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000													5	61					0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224621773	224621775	+	In_Frame_Del	DEL	CCT	-	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:224621773_224621775delCCT	uc001hop.4	-	0	227_229	c.33_35delAGG	c.(31-36)ggaggt>ggt	p.11_12GG>G	WDR26_uc001hoq.4_In_Frame_Del_p.11_12GG>G|WDR26_uc021pjp.1_Non-coding_Transcript|WDR26_uc009xei.2_In_Frame_Del_p.11_12GG>G|WDR26_uc021pjt.1_In_Frame_Del_p.11_12GG>G	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	11						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		gccgccgccacctcctcctcctc	0.739													3	3	---	---	---	---					
FKBP7	51661	broad.mit.edu	37	2	179343217	179343217	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:179343217delT	uc002umk.3	-	0	139	c.10delA	c.(10-12)accfs	p.T4fs	MIR548N_uc021vsx.1_Intron|FKBP7_uc002umm.3_Frame_Shift_Del_p.T4fs|FKBP7_uc002uml.3_Non-coding_Transcript|FKBP7_uc010zff.2_5'UTR|PLEKHA3_uc002umn.3_5'Flank	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	Homo sapiens FK506 binding protein 7 (FKBP7), transcript variant 1, mRNA.	4					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AAATGCATGGTTTTTGGCATC	0.522													7	303	---	---	---	---					
KIAA1257	57501	broad.mit.edu	37	3	128696988	128696988	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:128696988delT	uc003elj.4	-	4	904	c.708delA	c.(706-708)gaafs	p.E236fs	KIAA1257_uc003elg.1_Frame_Shift_Del_p.E236fs|KIAA1257_uc003eli.4_Frame_Shift_Del_p.E124fs	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358													7	66	---	---	---	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	-	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:79372774_79372776delTGA	uc021yaw.1	+	15	2180_2182	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	668					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													7	372	---	---	---	---					
LOC642236	642236	broad.mit.edu	37	9	68429132	68429133	+	RNA	INS	-	T	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr9:68429132_68429133insT	uc022bht.1	-	7		c.899_900insA								Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		GAATTTTACTGCTTCTTTACTT	0.317													7	588	---	---	---	---					
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	-	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:105727547_105727549delAGA	uc001kxo.1	+	0	78_80	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_uc001kxp.1_In_Frame_Del_p.K19del	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	19	Poly-Lys.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448													8	139	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr13:23914687delT	uc001uon.2	-	9	3917	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_uc001uoo.2_Frame_Shift_Del_p.I963fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383													9	329	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:61899155_61899157delCTC	uc002jbz.3	-	13	1600_1602	c.1522_1524delGAG	c.(1522-1524)gagdel	p.E508del	FTSJ3_uc002jca.3_In_Frame_Del_p.E508del	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													9	225	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44969453	44969453	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chrX:44969453delA	uc011mkz.2	+	28	4666	c.4291delA	c.(4291-4293)aaafs	p.K1431fs	KDM6A_uc004dge.4_Frame_Shift_Del_p.K1379fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.K1334fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.K1386fs|KDM6A_uc011mlc.2_Frame_Shift_Del_p.K1083fs|KDM6A_uc022bvj.1_Frame_Shift_Del_p.K1300fs|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Frame_Shift_Del_p.K1018fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	1379					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGAACAGTACAAAATGGAGGA	0.388			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								63	22	---	---	---	---					
