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
TENM2	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	ENST00000519204.1	+	4	931	c.813G>A	c.(811-813)gcG>gcA	p.A271A	TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000518659.1_Silent_p.A392A|TENM2_ENST00000545108.1_Silent_p.A392A|TENM2_ENST00000520394.1_Silent_p.A201A					teneurin transmembrane protein 2																		TTTTGCTGGCGTATTTCATAG	0.537000													4	47					0	0	0.184627	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	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			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	0.115264	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	ENST00000562955.1	+	65	8955	c.8955G>A	c.(8953-8955)gtG>gtA	p.V2985V	SZT2_ENST00000372442.1_Silent_p.V2143V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	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	0.217242	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	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		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	0.217242	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	ENST00000282292.4	+	4	664	c.524A>G	c.(523-525)cAt>cGt	p.H175R	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	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	0.335167	0	0
TSSC2	0	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	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	71					0	0	0.150653	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	ENST00000393799.2	+	3	391	c.124C>A	c.(124-126)Cgc>Agc	p.R42S	PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42S|PPP6R3_ENST00000393800.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42S			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	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					0.115264	0.122145	0.115264	1	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	ENST00000478753.2	-	1	1474	c.1021A>G	c.(1021-1023)Att>Gtt	p.I341V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	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	0.150653	0	0
ITGAL	0	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	ENST00000356798.6	+	24	2913	c.2733C>G	c.(2731-2733)aaC>aaG	p.N911K	ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K|ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	911					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	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	0.608945	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	ENST00000256442.5	+	6	1138	c.885T>C	c.(883-885)ttT>ttC	p.F295F		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	295					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|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	0.335167	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	ENST00000269886.3	-	3	315	c.137C>T	c.(136-138)gCg>gTg	p.A46V	SH3GL1_ENST00000598564.1_Missense_Mutation_p.A46V|SH3GL1_ENST00000417295.2_Missense_Mutation_p.A46V	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	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	0.115264	0	0
PCDHB10	0	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	ENST00000239446.4	+	1	760	c.576A>G	c.(574-576)ccA>ccG	p.P192P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		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	0.870114	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	ENST00000366574.2	+	43	6910	c.6593G>A	c.(6592-6594)cGt>cAt	p.R2198H	RYR2_ENST00000360064.6_Missense_Mutation_p.R2196H|RYR2_ENST00000542537.1_Missense_Mutation_p.R2182H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	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	0.870114	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	ENST00000261308.5	+	6	1097	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PPWD1_ENST00000538977.1_Missense_Mutation_p.R186Q|PPWD1_ENST00000535264.1_Missense_Mutation_p.R312Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	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	0.592651	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	ENST00000331664.5	-	1	1775	c.1776G>A	c.(1774-1776)acG>acA	p.T592T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	592					response to stimulus|visual perception	photoreceptor outer segment		p.T592T(1)		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	0.361761	0	0
RP11-204M4.2	0	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	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													6	47					0.000274275	0.000314089	0.307466	1	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	ENST00000294016.3	-	5	2680	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	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	adenylate cyclase activity|ATP binding|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	0.184627	0	0
GIMAP1	170575	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	ENST00000307194.5	+	3	439	c.299A>C	c.(298-300)gAg>gCg	p.E100A		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTGTGAGGAGAGAGGTCAC	0.647000													8	70					0	0	0.307466	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	ENST00000357060.3	-	34	4487	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H	WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H|WDR96_ENST00000479392.1_5'UTR	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	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	0.457914	0	0
ACKR2	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	ENST00000422265.1	+	3	901	c.726C>A	c.(724-726)ccC>ccA	p.P242P	ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.P242P	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		GGCTGAGGCCCGCAGGCCAGG	0.537000													4	167					0.184627	0.192773	0.184627	1	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	ENST00000340209.4	+	9	1083	c.786G>A	c.(784-786)ccG>ccA	p.P262P	RBFOX1_ENST00000547372.1_Silent_p.P300P|RBFOX1_ENST00000553186.1_Silent_p.P230P|RBFOX1_ENST00000535565.2_Silent_p.P214P|RBFOX1_ENST00000550418.1_Silent_p.P257P|RBFOX1_ENST00000552089.1_Silent_p.P274P|RBFOX1_ENST00000311745.5_Silent_p.P277P|RBFOX1_ENST00000436368.2_Silent_p.P277P|RBFOX1_ENST00000422070.4_Silent_p.P300P|RBFOX1_ENST00000547338.1_Silent_p.P257P|RBFOX1_ENST00000355637.4_Silent_p.P277P			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	257					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA 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	0.217242	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	ENST00000182096.4	+	11	2133	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 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	0.717897	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162620	90162620	+	RNA	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.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													3	157					0	0	0.150653	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	ENST00000359333.3	+	3	851	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	113						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAACCACCCCCCTACAGCACT	0.577000													50	100					0	0	0.870114	0	0
GOLGA6L5	0	broad.mit.edu	37	15	85053124	85053124	+	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.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353000													4	11					5.9392e-07	6.91284e-07	0.217242	1	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	ENST00000359499.4	-	5	600	c.589A>C	c.(589-591)Aag>Cag	p.K197Q	KRT78_ENST00000304620.4_Missense_Mutation_p.K307Q			Q8N1N4	K2C78_HUMAN	keratin 78	307	Coil 1B.|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	0.853193	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	ENST00000606613.1	+	1	273	c.212T>G	c.(211-213)tTc>tGc	p.F71C	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71C			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	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	0.870114	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	ENST00000373965.2	-	33	4675	c.4281C>G	c.(4279-4281)ccC>ccG	p.P1427P	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.P1349P|PCDH15_ENST00000395433.1_Silent_p.P1395P|PCDH15_ENST00000414778.1_Silent_p.P1422P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P1420P|PCDH15_ENST00000395432.2_Silent_p.P1380P|PCDH15_ENST00000320301.6_Silent_p.P1420P|PCDH15_ENST00000361849.3_Silent_p.P1420P|PCDH15_ENST00000395445.1_Silent_p.P1427P|PCDH15_ENST00000409834.1_Silent_p.P1031P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1417P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	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			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	0.760397	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	ENST00000360185.4	-	15	1717	c.1553C>A	c.(1552-1554)tCc>tAc	p.S518Y	GIT2_ENST00000457474.2_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y|GIT2_ENST00000356259.4_Intron			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	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					4.7546e-09	5.62628e-09	0.500413	1	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	ENST00000436346.1	-	8	1586	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	249					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			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	0.847076	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	ENST00000305476.5	-	9	985	c.853T>C	c.(853-855)Tgc>Cgc	p.C285R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	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	0.150653	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	ENST00000510636.1	+	23	3378	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N	CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	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					0.00116845	0.00129624	0.217242	1	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	ENST00000372343.3	+	2	1254	c.592T>G	c.(592-594)Tgt>Ggt	p.C198G		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	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	0.150653	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	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.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													3	85					0	0	0.115264	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	ENST00000358350.4	-	39	5266	c.4662G>A	c.(4660-4662)tgG>tgA	p.W1554*	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Nonsense_Mutation_p.W1554*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	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	0.750413	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	ENST00000394894.3	+	14	1963	c.1737G>A	c.(1735-1737)caG>caA	p.Q579Q	KIF20A_ENST00000508792.1_Silent_p.Q561Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	579					cytokinesis|M phase of mitotic cell cycle|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	0.812448	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	ENST00000293883.4	-	9	3076	c.2317C>G	c.(2317-2319)Ctg>Gtg	p.L773V	WDR24_ENST00000248142.6_Missense_Mutation_p.L903V	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	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	0.115264	0	0
WISP2	8839	broad.mit.edu	37	20	43355879	43355879	+	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.chr20:43355879G>A	ENST00000372865.4	+	3	945	c.437G>A	c.(436-438)aGc>aAc	p.S146N	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372868.2_Silent_p.Q228Q|WISP2_ENST00000190983.4_Silent_p.Q228Q			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	142	VWFC.				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	0.557998	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	ENST00000541323.1	+	3	550	c.105G>A	c.(103-105)gaG>gaA	p.E35E	PDGFRL_ENST00000251630.6_Silent_p.E35E|PDGFRL_ENST00000398074.3_Silent_p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	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	0.520397	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	ENST00000276594.2	-	5	1158	c.957A>G	c.(955-957)ggA>ggG	p.G319G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	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	0.115264	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	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.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													3	81					0	0	0.115264	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	ENST00000373965.2	-	33	4674	c.4280C>A	c.(4279-4281)cCc>cAc	p.P1427H	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1420H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	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			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					6.00712e-18	7.22891e-18	0.760397	1	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	ENST00000371471.2	-	2	1439	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	ZNF217_ENST00000302342.3_Silent_p.K338K			O75362	ZN217_HUMAN	zinc finger protein 217	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	0.539581	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	ENST00000297405.5	-	67	10713	c.10468_splice	c.e67-1	p.V3490_splice	CSMD3_ENST00000455883.2_Splice_Site_p.V3321_splice|CSMD3_ENST00000352409.3_Splice_Site_p.V3420_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V3450_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	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	0.217242	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	ENST00000263776.8	+	9	1267		c.e9+1			NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)								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					0.00136819	0.00149449	0.411799	1	0
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	RNA	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	ENST00000454407.1	+	0	1571							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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	0.217242	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	ENST00000360538.2	-	3	707	c.591T>G	c.(589-591)ggT>ggG	p.G197G	TOPORS_ENST00000379858.1_Silent_p.G132G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	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	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|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	0.335167	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	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	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	0.150653	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	ENST00000389942.5	-	5	982	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F245L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	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					0.0293803	0.0316061	0.248553	1	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	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T267M(2)		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	0.435327	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	ENST00000367463.4	+	3	491	c.388G>A	c.(388-390)Gga>Aga	p.G130R		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	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	0.870114	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	ENST00000322765.5	-	1	261	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	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	0.184627	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168471	25168471	+	RNA	SNP	C	C	T	rs61946941	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.chr13:25168471C>T	ENST00000453498.1	+	0	1143																											CATCTCTGTACGATGATGTGA	0.358000													4	46					0	0	0.248553	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	ENST00000351008.3	-	2	260	c.77A>G	c.(76-78)aAc>aGc	p.N26S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	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	0.278610	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	ENST00000265104.4	-	67	11654	c.11550A>G	c.(11548-11550)ttA>ttG	p.L3850L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	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	0.307466	0	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	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.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													5	93					0	0	0.278610	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	ENST00000265148.3	-	44	7328	c.7239G>A	c.(7237-7239)gtG>gtA	p.V2413V	CENPE_ENST00000380026.3_Silent_p.V2292V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	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	0.184627	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	ENST00000305877.8	+	1	1599	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	283	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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	0.361761	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	ENST00000532642.1	+	7	667	c.570G>C	c.(568-570)ggG>ggC	p.G190G	ATP6V0B_ENST00000472174.2_Silent_p.G190G|ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000236067.4_Silent_p.G143G			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	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	0.740014	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	ENST00000305231.7	+	5	1142	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	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					3.73988e-18	4.57813e-18	0.706142	1	0
TENM2	57451	broad.mit.edu	37	5	167420177	167420177	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:167420177G>A	ENST00000519204.1	+	4	931	c.813G>A	c.(811-813)gcG>gcA	p.A271A	TENM2_ENST00000518659.1_Silent_p.A392A|TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000520394.1_Silent_p.A201A|TENM2_ENST00000545108.1_Silent_p.A392A					teneurin transmembrane protein 2																		TTTTGCTGGCGTATTTCATAG	0.537000													4	47					0	0	0.184627	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:43912679G>A	ENST00000562955.1	+	65	8955	c.8955G>A	c.(8953-8955)gtG>gtA	p.V2985V	SZT2_ENST00000372442.1_Silent_p.V2143V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	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	0.217242	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr19:58017987A>G	ENST00000282292.4	+	4	664	c.524A>G	c.(523-525)cAt>cGt	p.H175R	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	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	0.335167	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													3	28					0	0	0.115264	0	0
ANKRD36BP2	0	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898																											AATTCAAATCATTGATTTCTG	0.289000													3	5					0	0	0.150653	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	71					0	0	0.150653	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000													3	26					0	0	0.150653	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr11:68305256C>A	ENST00000393799.2	+	3	391	c.124C>A	c.(124-126)Cgc>Agc	p.R42S	PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42S|PPP6R3_ENST00000393800.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42S			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	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					0.115264	0.121758	0.115264	1	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:30456028T>C	ENST00000478753.2	-	1	1474	c.1021A>G	c.(1021-1023)Att>Gtt	p.I341V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	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	0.150653	0	0
ITGAL	0	broad.mit.edu	37	16	30522404	30522404	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:30522404C>G	ENST00000356798.6	+	24	2913	c.2733C>G	c.(2731-2733)aaC>aaG	p.N911K	ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K|ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	911					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	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	0.608945	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:68470883T>C	ENST00000256442.5	+	6	1138	c.885T>C	c.(883-885)ttT>ttC	p.F295F		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	295					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|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	0.335167	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr19:4366548G>A	ENST00000269886.3	-	3	315	c.137C>T	c.(136-138)gCg>gTg	p.A46V	SH3GL1_ENST00000598564.1_Missense_Mutation_p.A46V|SH3GL1_ENST00000417295.2_Missense_Mutation_p.A46V	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	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	0.115264	0	0
PCDHB10	0	broad.mit.edu	37	5	140572701	140572701	+	Silent	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:140572701A>G	ENST00000239446.4	+	1	760	c.576A>G	c.(574-576)ccA>ccG	p.P192P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		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	0.870114	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:237796915G>A	ENST00000366574.2	+	43	6910	c.6593G>A	c.(6592-6594)cGt>cAt	p.R2198H	RYR2_ENST00000360064.6_Missense_Mutation_p.R2196H|RYR2_ENST00000542537.1_Missense_Mutation_p.R2182H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	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	0.870114	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:64872761G>A	ENST00000261308.5	+	6	1097	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PPWD1_ENST00000538977.1_Missense_Mutation_p.R186Q|PPWD1_ENST00000535264.1_Missense_Mutation_p.R312Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	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	0.592651	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr22:23523995A>G	ENST00000305877.8	+	1	1599	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	283	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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	0.361761	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr2:29295352C>T	ENST00000331664.5	-	1	1775	c.1776G>A	c.(1774-1776)acG>acA	p.T592T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	592					response to stimulus|visual perception	photoreceptor outer segment		p.T592T(1)		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	0.361761	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:4042212C>T	ENST00000294016.3	-	5	2680	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	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	adenylate cyclase activity|ATP binding|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	0.184627	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417391	150417391	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr7:150417391A>C	ENST00000307194.5	+	3	439	c.299A>C	c.(298-300)gAg>gCg	p.E100A		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTGTGAGGAGAGAGGTCAC	0.647000													8	70					0	0	0.307466	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr10:105900659A>G	ENST00000357060.3	-	34	4487	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	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	0.457914	0	0
ACKR2	1238	broad.mit.edu	37	3	42906720	42906720	+	Silent	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr3:42906720C>A	ENST00000422265.1	+	3	901	c.726C>A	c.(724-726)ccC>ccA	p.P242P	ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Silent_p.P242P|ACKR2_ENST00000442925.1_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		GGCTGAGGCCCGCAGGCCAGG	0.537000													4	167					0.184627	0.19232	0.184627	1	0
SDHAP1	0	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													7	58					0	0	0.335167	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:7703830G>A	ENST00000340209.4	+	9	1083	c.786G>A	c.(784-786)ccG>ccA	p.P262P	RBFOX1_ENST00000311745.5_Silent_p.P277P|RBFOX1_ENST00000553186.1_Silent_p.P230P|RBFOX1_ENST00000535565.2_Silent_p.P214P|RBFOX1_ENST00000552089.1_Silent_p.P274P|RBFOX1_ENST00000422070.4_Silent_p.P300P|RBFOX1_ENST00000547338.1_Silent_p.P257P|RBFOX1_ENST00000436368.2_Silent_p.P277P|RBFOX1_ENST00000550418.1_Silent_p.P257P|RBFOX1_ENST00000355637.4_Silent_p.P277P|RBFOX1_ENST00000547372.1_Silent_p.P300P			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	257					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA 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	0.217242	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr3:97618049G>C	ENST00000182096.4	+	11	2133	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 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	0.717897	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr7:142983609C>T	ENST00000359333.3	+	3	851	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000427392.1_RNA|AC073342.12_ENST00000446192.1_RNA	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	113						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAACCACCCCCCTACAGCACT	0.577000													50	100					0	0	0.870114	0	0
CROCCP2	0	broad.mit.edu	37	1	16956688	16956688	+	RNA	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:16956688A>G	ENST00000412962.1	-	0	294																											AGGCCTCCAGAGCCCACCTAC	0.652000													4	23					0	0	0.150653	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			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	0.115264	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr12:53238345T>G	ENST00000359499.4	-	5	600	c.589A>C	c.(589-591)Aag>Cag	p.K197Q	KRT78_ENST00000304620.4_Missense_Mutation_p.K307Q			Q8N1N4	K2C78_HUMAN	keratin 78	307	Coil 1B.|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	0.853193	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	36					0	0	0.184627	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr6:27806651T>G	ENST00000606613.1	+	1	273	c.212T>G	c.(211-213)tTc>tGc	p.F71C	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71C			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	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	0.870114	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr10:55587260G>C	ENST00000373965.2	-	33	4675	c.4281C>G	c.(4279-4281)ccC>ccG	p.P1427P	PCDH15_ENST00000437009.1_Silent_p.P1349P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P1422P|PCDH15_ENST00000395433.1_Silent_p.P1395P|PCDH15_ENST00000395432.2_Silent_p.P1380P|PCDH15_ENST00000395430.1_Silent_p.P1417P|PCDH15_ENST00000395438.1_Silent_p.P1420P|PCDH15_ENST00000320301.6_Silent_p.P1420P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.P1031P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.P1420P|PCDH15_ENST00000395445.1_Silent_p.P1427P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	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			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	0.760397	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr12:110383093G>T	ENST00000360185.4	-	15	1717	c.1553C>A	c.(1552-1554)tCc>tAc	p.S518Y	GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y|GIT2_ENST00000457474.2_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000356259.4_Intron			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	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					4.7546e-09	5.66024e-09	0.500413	1	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr2:55582770G>C	ENST00000436346.1	-	8	1586	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	249					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			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	0.847076	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr2:97530551A>G	ENST00000305476.5	-	9	985	c.853T>C	c.(853-855)Tgc>Cgc	p.C285R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	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	0.150653	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:176016426C>A	ENST00000510636.1	+	23	3378	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N	CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N|CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	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					0.00116845	0.00130796	0.217242	1	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:44415596T>G	ENST00000372343.3	+	2	1254	c.592T>G	c.(592-594)Tgt>Ggt	p.C198G		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	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	0.150653	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													3	85					0	0	0.115264	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr4:48551612C>T	ENST00000358350.4	-	39	5266	c.4662G>A	c.(4660-4662)tgG>tgA	p.W1554*	FRYL_ENST00000537810.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	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	0.750413	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:137520549G>A	ENST00000394894.3	+	14	1963	c.1737G>A	c.(1735-1737)caG>caA	p.Q579Q	KIF20A_ENST00000508792.1_Silent_p.Q561Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	579					cytokinesis|M phase of mitotic cell cycle|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	0.812448	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:734790G>C	ENST00000293883.4	-	9	3076	c.2317C>G	c.(2317-2319)Ctg>Gtg	p.L773V	WDR24_ENST00000248142.6_Missense_Mutation_p.L903V	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	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	0.115264	0	0
WISP2	8839	broad.mit.edu	37	20	43355879	43355879	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr20:43355879G>A	ENST00000372865.4	+	3	945	c.437G>A	c.(436-438)aGc>aAc	p.S146N	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372868.2_Silent_p.Q228Q|WISP2_ENST00000190983.4_Silent_p.Q228Q|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000471629.1_3'UTR			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	142	VWFC.				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	0.557998	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr8:17447026G>A	ENST00000541323.1	+	3	550	c.105G>A	c.(103-105)gaG>gaA	p.E35E	PDGFRL_ENST00000251630.6_Silent_p.E35E|PDGFRL_ENST00000398074.3_Silent_p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	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	0.520397	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr8:70978696T>C	ENST00000276594.2	-	5	1158	c.957A>G	c.(955-957)ggA>ggG	p.G319G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	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	0.115264	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													3	81					0	0	0.115264	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr10:55587261G>T	ENST00000373965.2	-	33	4674	c.4280C>A	c.(4279-4281)cCc>cAc	p.P1427H	PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1420H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	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			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					6.00712e-18	7.26668e-18	0.760397	1	0
ZNF217	7764	broad.mit.edu	37	20	52198352	52198352	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr20:52198352C>T	ENST00000371471.2	-	2	1439	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	ZNF217_ENST00000302342.3_Silent_p.K338K			O75362	ZN217_HUMAN	zinc finger protein 217	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	0.539581	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr8:113249577A>G	ENST00000297405.5	-	67	10713	c.10468_splice	c.e67-1	p.V3490_splice	CSMD3_ENST00000455883.2_Splice_Site_p.V3321_splice|CSMD3_ENST00000352409.3_Splice_Site_p.V3420_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V3450_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	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	0.217242	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr11:44100335G>T	ENST00000263776.8	+	9	1267		c.e9+1			NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)								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					0.00136819	0.00150904	0.411799	1	0
RRN3P1	0	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	23					0	0	0.150653	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													3	24					0	0	0.115264	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr9:32543932A>C	ENST00000360538.2	-	3	707	c.591T>G	c.(589-591)ggT>ggG	p.G197G	TOPORS_ENST00000379858.1_Silent_p.G132G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	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	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|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	0.335167	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr4:111397722C>T	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	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	0.150653	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr6:149773804G>T	ENST00000389942.5	-	5	982	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F245L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	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					0.0293803	0.0314789	0.248553	1	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T267M(2)		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	0.435327	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr6:149262511G>A	ENST00000367463.4	+	3	491	c.388G>A	c.(388-390)Gga>Aga	p.G130R		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	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	0.870114	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr17:43209630C>T	ENST00000322765.5	-	1	261	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	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	0.184627	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr3:172835445T>C	ENST00000351008.3	-	2	260	c.77A>G	c.(76-78)aAc>aGc	p.N26S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	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	0.278610	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:13735947T>C	ENST00000265104.4	-	67	11654	c.11550A>G	c.(11548-11550)ttA>ttG	p.L3850L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	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	0.307466	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr4:104041395C>T	ENST00000265148.3	-	44	7328	c.7239G>A	c.(7237-7239)gtG>gtA	p.V2413V	CENPE_ENST00000380026.3_Silent_p.V2292V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	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	0.184627	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:44442867G>C	ENST00000532642.1	+	7	667	c.570G>C	c.(568-570)ggG>ggC	p.G190G	ATP6V0B_ENST00000472174.2_Silent_p.G190G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000236067.4_Silent_p.G143G|ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000471859.2_Silent_p.G237G			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	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	0.740014	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-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr4:69973826C>A	ENST00000305231.7	+	5	1142	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	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					3.73988e-18	4.59822e-18	0.706142	1	0
WDR26	80232	broad.mit.edu	37	1	224621773	224621775	+	In_Frame_Del	DEL	CCT	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	ENST00000414423.2	-	1	226_228	c.33_35delAGG	c.(31-36)ggt>gg	p.GG23del	WDR26_ENST00000295024.6_5'UTR|WDR26_ENST00000366852.2_In_Frame_Del_p.GG23del	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	23						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	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	ENST00000424785.2	-	1	68	c.10delA	c.(10-12)ccfs	p.T4fs	FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	4					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 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	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	ENST00000265068.5	-	5	875	c.708delA	c.(706-708)gafs	p.E236fs	KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	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	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	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					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	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	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.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													3	6	---	---	---	---					
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	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	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gag>g	p.EK15del	SLK_ENST00000335753.4_In_Frame_Del_p.EK15del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	15					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	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	ENST00000382298.3	-	10	3916	c.3328delA	c.(3328-3330)ttfs	p.I1110fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein 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	---	---	---	---					
CSPG4P5	0	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			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.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													4	3	---	---	---	---					
AC006050.2	0	broad.mit.edu	37	17	28901676	28901676	+	RNA	DEL	C	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.chr17:28901676delC	ENST00000436477.2	-	0	995																											tgctgccccaccccccctcca	0.617													3	4	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	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	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	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	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	ENST00000377967.4	+	28	4176	c.4135delA	c.(4135-4137)aafs	p.K1379fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	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	---	---	---	---					
WDR26	80232	broad.mit.edu	37	1	224621773	224621775	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:224621773_224621775delCCT	ENST00000414423.2	-	1	226_228	c.33_35delAGG	c.(31-36)ggt>gg	p.GG23del	WDR26_ENST00000366852.2_In_Frame_Del_p.GG23del|WDR26_ENST00000295024.6_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	23						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	---	---	---	---					
AC019118.2	0	broad.mit.edu	37	2	2910378	2910379	+	RNA	INS	-	-	C	rs72051156	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr2:2910378_2910379insC	ENST00000457478.1	-	0	594																											ACAGCCGCCCACCCTACACCTT	0.639													2	4	---	---	---	---					
KIAA1257	57501	broad.mit.edu	37	3	128696988	128696988	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr3:128696988delT	ENST00000265068.5	-	5	875	c.708delA	c.(706-708)gafs	p.E236fs	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358													7	66	---	---	---	---					
LINC00051	0	broad.mit.edu	37	8	143287465	143287466	+	RNA	INS	-	-	AGGGGC			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr8:143287465_143287466insAGGGGC	ENST00000517704.1	+	0	101					NR_024378.1																						GAGACAGCGGAaggggcagggg	0.624													4	8	---	---	---	---					
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)del	p.S691del	NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1			NUT family member 2F									p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611													4	7	---	---	---	---					
AC006050.2	0	broad.mit.edu	37	17	28901676	28901676	+	RNA	DEL	C	C	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr17:28901676delC	ENST00000436477.2	-	0	995																											tgctgccccaccccccctcca	0.617													3	4	---	---	---	---					
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343													7	241	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44969453	44969453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chrX:44969453delA	ENST00000377967.4	+	28	4176	c.4135delA	c.(4135-4137)aafs	p.K1379fs	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	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	---	---	---	---					
