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
RP1-241P17.4	0	broad.mit.edu	37	X	114953501	114953501	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chrX:114953501G>C	ENST00000449327.1	-	1	168	c.49C>G	c.(49-51)Cat>Gat	p.H17D																								AAATTAATATGATCGTTGTTC	0.473000													24	14					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46320993	46320993	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:46320993G>C	ENST00000465950.1	-	1	2755	c.1546C>G	c.(1546-1548)Caa>Gaa	p.Q516E	SCAF11_ENST00000419565.2_Missense_Mutation_p.Q831E|SCAF11_ENST00000369367.3_Missense_Mutation_p.Q831E|SCAF11_ENST00000549162.1_Missense_Mutation_p.Q639E			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	831					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GATGGTGATTGAGACTTCCTG	0.473000													54	96					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100493950	100493950	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr8:100493950C>G	ENST00000395996.1	+	25	3901	c.3790C>G	c.(3790-3792)Cca>Gca	p.P1264A	VPS13B_ENST00000357162.2_Missense_Mutation_p.P1264A|VPS13B_ENST00000358544.2_Missense_Mutation_p.P1264A			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1264					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCTACTTCTCCAGTTAGAAG	0.468000													20	67					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40916715	40916715	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr15:40916715C>T	ENST00000346991.5	+	11	4721	c.4331C>T	c.(4330-4332)tCa>tTa	p.S1444L	CASC5_ENST00000399668.2_Missense_Mutation_p.S1418L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1444					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAACTTAATTCAAAGCGAGTA	0.368000													21	77					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102492964	102492964	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr14:102492964G>A	ENST00000360184.4	+	44	8855	c.8691G>A	c.(8689-8691)ctG>ctA	p.L2897L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2897					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGCTAGGCTGAAGGTCTTTT	0.378000													23	43					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187646	62187646	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr20:62187646C>T	ENST00000370098.3	+	2	722	c.630C>T	c.(628-630)gtC>gtT	p.V210V	C20orf195_ENST00000370097.1_Silent_p.V210V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	210										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGATGCCTGTCGTGTTTGACC	0.627000													46	104					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150375	34150375	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chrX:34150375C>T	ENST00000346193.3	-	1	72	c.21G>A	c.(19-21)caG>caA	p.Q7Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	7										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCAGCCAGTCCTGCAGCCTCT	0.637000													24	10					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147030078	147030078	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:147030078G>A	ENST00000265272.5	-	4	1127	c.660C>T	c.(658-660)atC>atT	p.I220I	JAKMIP2_ENST00000507386.1_Silent_p.I220I|JAKMIP2_ENST00000333010.6_Silent_p.I178I	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	220						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGAAAAGATGATCCTGT	0.408000													11	46					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													3	16					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8759524	8759524	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:8759524G>A	ENST00000229335.6	-	2	196	c.93C>T	c.(91-93)taC>taT	p.Y31Y	AICDA_ENST00000537228.1_Silent_p.Y31Y	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	31					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					TCTTCACTACGTAGCACAGGT	0.473000													16	31					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5330819	5330819	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:5330819G>A	ENST00000396872.3	+	4	527	c.366G>A	c.(364-366)ctG>ctA	p.L122L	SLC29A4_ENST00000297195.4_Silent_p.L122L|SLC29A4_ENST00000406453.3_Silent_p.L122L			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CTGTCCTCCTGAACAACGTCC	0.632000													6	28					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41386995	41386995	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:41386995C>T	ENST00000551295.2	+	17	2154	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	CNTN1_ENST00000347616.1_Silent_p.F679F|CNTN1_ENST00000348761.2_Silent_p.F668F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	679	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGTATGAATTCCGCGTGGTAG	0.398000													46	89					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29604346	29604346	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:29604346C>T	ENST00000318184.5	-	22	2686	c.2687G>A	c.(2686-2688)gGg>gAg	p.G896E	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	896	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CACAGGAGACCCCAGGAGTGA	0.413000													8	36					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41054878	41054878	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:41054878G>A	ENST00000399564.4	-	11	1548	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTTTTGTACTGAGATCACCCA	0.363000													13	47					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021112	5021112	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:5021112G>T	ENST00000321543.1	+	1	900	c.900G>T	c.(898-900)caG>caT	p.Q300H		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAACAAAGCAGATTCGTCTAG	0.438000													19	40					1.64113e-05	1.6749e-05	1	1	0
ZCCHC7	84186	broad.mit.edu	37	9	37357249	37357249	+	Missense_Mutation	SNP	G	G	C	rs1051465		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:37357249G>C	ENST00000336755.5	+	9	1722	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.R249T	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	539			R -> K (in dbSNP:rs1051465).				nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATTAAGCAGAGAAAAAAAAAG	0.413000													7	28					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27364481	27364481	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr8:27364481G>A	ENST00000521400.1	+	5	1060	c.630G>A	c.(628-630)ctG>ctA	p.L210L	EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000518379.1_Silent_p.L210L|EPHX2_ENST00000380476.3_Silent_p.L157L|EPHX2_ENST00000521780.1_Silent_p.L144L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	210	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	ACACGGCCCTGAAAGAACTGG	0.532000													20	60					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3531970	3531970	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:3531970G>A	ENST00000441788.2	+	10	1121	c.885G>A	c.(883-885)caG>caA	p.Q295Q	FZR1_ENST00000313639.8_Silent_p.Q206Q|FZR1_ENST00000395095.3_Silent_p.Q295Q	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	295					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCCTGCAGAGGGACATCC	0.706000													2	1					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265579	198265579	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:198265579C>T	ENST00000335508.6	-	18	2669	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTCGGCTTCATCTTTCAGA	0.363000			Mis		myelodysplastic syndrome								18	35					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31830307	31830307	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr20:31830307G>C	ENST00000354297.4	+	8	816	c.745G>C	c.(745-747)Gga>Cga	p.G249R	BPIFA1_ENST00000375422.2_Missense_Mutation_p.G249R|BPIFA1_ENST00000375413.4_Missense_Mutation_p.G249R	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	249					innate immune response	extracellular region	lipid binding										GCTGATCCACGGACTACAGTT	0.512000													13	40					0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16415841	16415841	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:16415841A>G	ENST00000407010.2	-	3	559	c.560T>C	c.(559-561)gTa>gCa	p.V187A	ISPD_ENST00000399310.3_Intron	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	187					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GACAGTAGATACAAGAGGTCG	0.423000										Multiple Myeloma(15;0.18)			11	21					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95538739	95538739	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr8:95538739G>A	ENST00000297591.5	-	8	1808	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	KIAA1429_ENST00000421249.2_Missense_Mutation_p.S578L|KIAA1429_ENST00000437199.1_Missense_Mutation_p.S578L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	578					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGGAAGAGATGAAGTCTTCTC	0.413000													4	117					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52019390	52019390	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:52019390A>G	ENST00000458031.2	+	6	674	c.443A>G	c.(442-444)tAt>tGt	p.Y148C	ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000476854.1_Missense_Mutation_p.Y58C|ACY1_ENST00000494103.1_Missense_Mutation_p.Y58C|ACY1_ENST00000476351.1_Intron|ACY1_ENST00000404366.2_Missense_Mutation_p.Y58C|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.Y159C			Q03154	ACY1_HUMAN	aminoacylase 1	58					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GCACCTGGCTATGTGGTGACC	0.612000													10	18					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													3	63					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70507734	70507734	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:70507734C>G	ENST00000338508.4	-	22	1905	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	SHANK2_ENST00000409161.1_Missense_Mutation_p.E46Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.E256Q|SHANK2_ENST00000357171.3_Missense_Mutation_p.E47Q|SHANK2_ENST00000449116.2_Missense_Mutation_p.E47Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.E47Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.E46Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	256					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCAAAGCCCTCATTGTCTTTT	0.498000													47	91					0	0	1	0	0
ENKD1	84080	broad.mit.edu	37	16	67697147	67697147	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr16:67697147C>G	ENST00000243878.4	-	7	1279	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	ENKD1_ENST00000602644.1_3'UTR	NM_032140.1	NP_115516.1			enkurin domain containing 1																		CGGTCCAGCTCAGCACGGTGG	0.622000													12	52					0	0	1	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													6	746					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56216927	56216927	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:56216927G>T	ENST00000357606.3	-	5	1850	c.1561C>A	c.(1561-1563)Ctg>Atg	p.L521M	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S150Y|DNAJC14_ENST00000317269.3_Missense_Mutation_p.L521M|DNAJC14_ENST00000317287.5_Missense_Mutation_p.L521M			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	521					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGCTTGGACAGAAACTCATTT	0.443000													28	66					1.88708e-17	1.99999e-17	1	1	0
ZNF443	10224	broad.mit.edu	37	19	12542697	12542697	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:12542697G>C	ENST00000301547.5	-	4	486	c.289C>G	c.(289-291)Ctt>Gtt	p.L97V	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	97					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ACTCCAGGAAGAGTGTTCTTG	0.413000													20	33					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171854323	171854323	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:171854323G>A	ENST00000442919.2	-	19	2386	c.1771C>T	c.(1771-1773)Cct>Tct	p.P591S	TLK1_ENST00000521943.1_Missense_Mutation_p.P591S|TLK1_ENST00000431350.2_Missense_Mutation_p.P639S|TLK1_ENST00000434911.2_Missense_Mutation_p.P543S|TLK1_ENST00000360843.3_Missense_Mutation_p.P660S	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	639	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAACACTCAGGAGGTAAATAC	0.353000													5	166					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45476392	45476392	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:45476392C>T	ENST00000541297.2	+	3	657	c.192C>T	c.(190-192)gcC>gcT	p.A64A	CLPTM1_ENST00000546079.1_5'UTR|CLPTM1_ENST00000337392.5_Silent_p.A78A			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	78					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAGGGCCGGCCCCTCAGGACC	0.637000													25	44					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112575022	112575022	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr6:112575022G>A	ENST00000368638.4	-	2	601	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	RP11-506B6.6_ENST00000590804.1_RNA|LAMA4_ENST00000230538.7_Intron|LAMA4_ENST00000431543.2_Intron|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000453937.2_Missense_Mutation_p.R111W|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000389463.4_Intron|RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000424408.2_Intron|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|LAMA4_ENST00000522006.1_Intron			Q16363	LAMA4_HUMAN	laminin, alpha 4	0	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCAAGTTTCCGAACTGACCTA	0.517000													17	40					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862970	154862970	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:154862970G>A	ENST00000287907.2	+	1	937	c.361G>A	c.(361-363)Gac>Aac	p.D121N	HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.S15L|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.S15L|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	121						integral to plasma membrane	serotonin receptor activity	p.D121N(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GATCGCGTGCGACGTGCTTTG	0.672000													10	16					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	38					0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668230	59668230	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:59668230A>T	ENST00000521764.1	-	1	333	c.312T>A	c.(310-312)ttT>ttA	p.F104L		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	104	NAC-A/B.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TTGTGATGACAAAGAGGATAT	0.448000													82	156					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148876570	148876570	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:148876570G>A	ENST00000296051.2	+	10	1949	c.1809G>A	c.(1807-1809)gaG>gaA	p.E603E	HPS3_ENST00000460120.1_Silent_p.E438E	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	603						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGAAATACGAGAGAGGATTAA	0.353000									Hermansky-Pudlak syndrome				82	65					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188815	70188815	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:70188815C>T	ENST00000320256.4	-	1	582	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	2					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCCCTGGGCTCCCCATTCTCC	0.657000													17	74					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													4	166					0	0	1	0	0
MIR21	406991	broad.mit.edu	37	17	57918661	57918661	+	RNA	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:57918661G>A	ENST00000362134.1	+	0	35					NR_029493.1																						GTTGACTGTTGAATCTCATGG	0.448000													72	90					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98973703	98973703	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr8:98973703C>T	ENST00000254898.5	+	5	1134	c.903C>T	c.(901-903)ttC>ttT	p.F301F	MATN2_ENST00000524308.1_Silent_p.F301F|MATN2_ENST00000522025.2_Silent_p.F17F|MATN2_ENST00000521689.1_Silent_p.F301F|MATN2_ENST00000520016.1_Silent_p.F301F	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	301	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding	p.F301L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CGGGCTCCTTCGTCTGCCAGT	0.557000													5	90					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430051	43430051	+	RNA	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:43430051G>A	ENST00000406070.2	-	0	1213				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CCTGATAGCTGAAACTTCCCA	0.458000													29	283					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701992	181701992	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:181701992C>T	ENST00000526775.1	+	19	2878	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R856C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R924C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R875C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R905C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R924C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R531C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	924					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCCGGCATCGCCGCGTCAG	0.647000													20	63					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50732714	50732714	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:50732714C>T	ENST00000355832.5	-	5	840	c.762G>A	c.(760-762)caG>caA	p.Q254Q	ERCC6-PGBD3_ENST00000515869.1_Silent_p.Q254Q|PGBD3_ENST00000603152.1_Silent_p.Q254Q|ERCC6-PGBD3_ENST00000447839.2_Silent_p.Q254Q	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	254					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTCCTGTTTCTGAGGGATCT	0.478000								Direct reversal of damage;Nucleotide excision repair (NER)					32	96					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45658269	45658269	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr14:45658269G>C	ENST00000267430.5	+	20	5129	c.5044G>C	c.(5044-5046)Gat>Cat	p.D1682H	FANCM_ENST00000542564.2_Missense_Mutation_p.D1656H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1682					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAATGTAAATGATAAAAGAGA	0.343000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	68					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	42					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37649026	37649026	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:37649026G>A	ENST00000447079.4	+	4	2164	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	CDK12_ENST00000430627.2_Missense_Mutation_p.E711K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	711					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCGTTATGGAGAAAGAAGACA	0.413000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			17	56					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37881979	37881979	+	Silent	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:37881979G>C	ENST00000406381.2	+	25	3165	c.2655G>C	c.(2653-2655)ctG>ctC	p.L885L	ERBB2_ENST00000540147.1_Silent_p.L885L|ERBB2_ENST00000269571.5_Silent_p.L915L|ERBB2_ENST00000541774.1_Silent_p.L900L|ERBB2_ENST00000445658.2_Silent_p.L639L|ERBB2_ENST00000584450.1_Silent_p.L915L|ERBB2_ENST00000584601.1_Silent_p.L885L	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	915	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGGGAGCTGATGACTTTTG	0.602000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			14	39					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110301179	110301179	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr6:110301179C>A	ENST00000414000.2	+	3	1148	c.909C>A	c.(907-909)ttC>ttA	p.F303L	GPR6_ENST00000275169.3_Missense_Mutation_p.F288L			P46095	GPR6_HUMAN	G protein-coupled receptor 6	288						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGGGCACTTTCGGCGCCAGCT	0.657000													8	31					1.76689e-08	1.82579e-08	1	1	0
HSPA12A	259217	broad.mit.edu	37	10	118451883	118451883	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:118451883G>A	ENST00000369209.3	-	6	746	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	214							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CTTGTCTCATGAACTGCTTGG	0.597000													33	98					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1051202	1051202	+	Silent	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:1051202G>C	ENST00000263094.6	+	20	2964	c.2733G>C	c.(2731-2733)ctG>ctC	p.L911L	ABCA7_ENST00000433129.1_Silent_p.L911L|ABCA7_ENST00000435683.2_Silent_p.L773L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	911	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGGGTCTGAGTGCCGCTG	0.642000													4	15					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	3					0	0	1	0	0
SRI	6717	broad.mit.edu	37	7	87838667	87838667	+	Silent	SNP	C	C	T	rs1804476		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:87838667C>T	ENST00000265729.2	-	6	550	c.498G>A	c.(496-498)ctG>ctA	p.L166L	SRI_ENST00000419179.1_Silent_p.L126L|SRI_ENST00000394641.3_Silent_p.L151L|SRI_ENST00000490437.1_Silent_p.L123L|SRI_ENST00000431660.1_Silent_p.L151L	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	166	EF-hand 4.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					TAAGAGCCCTCAGTTTGACGC	0.438000													18	66					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57008938	57008938	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:57008938C>T	ENST00000551812.1	-	3	789	c.596G>A	c.(595-597)aGc>aAc	p.S199N	BAZ2A_ENST00000179765.5_Intron|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S197N|BAZ2A_ENST00000379441.3_Intron	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	199					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGTTTGAATGCTAGATCCCAA	0.488000													6	18					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763421	44763421	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:44763421G>T	ENST00000296091.4	+	4	1368	c.1112G>T	c.(1111-1113)cGa>cTa	p.R371L	ZNF502_ENST00000436624.2_Missense_Mutation_p.R371L|ZNF502_ENST00000449836.1_Missense_Mutation_p.R371L	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AAACACCAGCGAATTCATACT	0.408000													20	42					1.33834e-09	1.38873e-09	1	1	0
WBP11	51729	broad.mit.edu	37	12	14943498	14943498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:14943498G>A	ENST00000261167.2	-	10	1434	c.1201C>T	c.(1201-1203)Cag>Tag	p.Q401*		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	401	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GCTTGTATCTGAGAAGGAGGA	0.562000													16	38					0	0	1	0	0
SNX3	8724	broad.mit.edu	37	6	108581967	108581967	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr6:108581967G>A	ENST00000230085.8	-	1	497	c.159C>T	c.(157-159)gtC>gtT	p.V53V	SNX3_ENST00000349379.5_Intron|SNX3_ENST00000426155.2_Silent_p.V53V|SNX3_ENST00000368982.4_Silent_p.V53V	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	53	PX.				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		GCCTCACCTTGACCCTGATTT	0.667000													6	30					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227180	38227180	+	Silent	SNP	G	G	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:38227180G>T	ENST00000373048.4	-	3	746	c.747C>A	c.(745-747)ggC>ggA	p.G249G	EPHA10_ENST00000427468.2_Silent_p.G249G|EPHA10_ENST00000319637.6_Silent_p.G249G	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	249						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGGGGGGCTGCCAGGCTCCC	0.716000													5	15					1	1	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26647208	26647208	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:26647208C>G	ENST00000381340.3	-	39	5664	c.5248G>C	c.(5248-5250)Gat>Cat	p.D1750H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1750					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCTTCTTTATCCAGCAGACAC	0.368000													12	29					0	0	1	0	0
FBXO47	494188	broad.mit.edu	37	17	37119252	37119252	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:37119252G>A	ENST00000378079.2	-	2	226	c.27C>T	c.(25-27)ttC>ttT	p.F9F		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	9										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GAATCAAAGTGAAATTTGTAT	0.363000													12	84					0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88768484	88768484	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr6:88768484C>G	ENST00000237201.1	+	4	535	c.418C>G	c.(418-420)Cac>Gac	p.H140D		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	140						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GGCATGTATTCACACATCTCC	0.338000													8	26					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586439	189586439	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:189586439G>A	ENST00000264731.3	+	8	1152	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	TP63_ENST00000456148.1_Missense_Mutation_p.D261N|TP63_ENST00000382063.4_Missense_Mutation_p.D270N|TP63_ENST00000440651.2_Missense_Mutation_p.D355N|TP63_ENST00000437221.1_Missense_Mutation_p.D261N|TP63_ENST00000449992.1_Missense_Mutation_p.D176N|TP63_ENST00000418709.2_Missense_Mutation_p.D355N|TP63_ENST00000392463.2_Missense_Mutation_p.D261N|TP63_ENST00000320472.5_Missense_Mutation_p.D355N|TP63_ENST00000392460.3_Missense_Mutation_p.D355N|TP63_ENST00000392461.3_Missense_Mutation_p.D261N|TP63_ENST00000354600.5_Missense_Mutation_p.D261N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	355	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGGAAGGCGGATGAAGATAG	0.517000										HNSCC(45;0.13)			28	41					0	0	1	0	0
CES1P1	51716	broad.mit.edu	37	16	55801406	55801406	+	RNA	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr16:55801406G>C	ENST00000571348.1	+	0	433					NR_003276.2																						ACTTGACCAAGAAAAACAGGC	0.483000													6	103					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20976534	20976534	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:20976534G>C	ENST00000380249.1	+	38	4612	c.4248G>C	c.(4246-4248)atG>atC	p.M1416I	FOCAD_ENST00000338382.6_Missense_Mutation_p.M1416I|FOCAD_ENST00000605086.1_Missense_Mutation_p.M852I	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1416						integral to membrane	binding										CTCCACTTATGAGGCTAAATT	0.383000													5	197					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411569	51411569	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:51411569G>A	ENST00000319760.6	-	1	879	c.827C>T	c.(826-828)aCa>aTa	p.T276I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAGCATGTGTGTGATAATGGT	0.308000													10	41					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37883134	37883134	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:37883134G>C	ENST00000406381.2	+	27	3457	c.2947G>C	c.(2947-2949)Gac>Cac	p.D983H	ERBB2_ENST00000540147.1_Missense_Mutation_p.D983H|ERBB2_ENST00000269571.5_Missense_Mutation_p.D1013H|ERBB2_ENST00000541774.1_Missense_Mutation_p.D998H|ERBB2_ENST00000445658.2_Missense_Mutation_p.D737H|ERBB2_ENST00000584450.1_Missense_Mutation_p.D1013H|ERBB2_ENST00000584601.1_Missense_Mutation_p.D983H	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1013	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGAGGACGATGACATGGGGGA	0.632000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			27	98					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27662642	27662642	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:27662642C>G	ENST00000233557.3	+	12	1745	c.913C>G	c.(913-915)Caa>Gaa	p.Q305E	NRBP1_ENST00000379863.3_Missense_Mutation_p.Q313E|NRBP1_ENST00000379852.3_Missense_Mutation_p.Q305E			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	305	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GGAGTTCATTCAAAAGTGCCT	0.502000													4	170					0	0	1	0	0
CRIP2	1397	broad.mit.edu	37	14	105944793	105944793	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr14:105944793G>T	ENST00000329146.4	+	3	858	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	CRIP2_ENST00000483017.3_Missense_Mutation_p.G123W|CRIP2_ENST00000548989.1_3'UTR	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	49	LIM zinc-binding 1.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCAGCATGACGGGAAGCCGTT	0.746000													4	11					5.9392e-07	6.11171e-07	1	1	0
HCN3	57657	broad.mit.edu	37	1	155254985	155254985	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:155254985C>T	ENST00000368358.3	+	5	1127	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	373						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACATGTCCTTCCACAAGCTGC	0.602000													31	57					0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57652715	57652715	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:57652715G>C	ENST00000451169.2	+	7	918	c.559G>C	c.(559-561)Gaa>Caa	p.E187Q	DHX40_ENST00000251241.4_Missense_Mutation_p.E286Q|DHX40_ENST00000425628.3_Missense_Mutation_p.E209Q			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	286	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTTTGAAATAGAAAAAAGTTG	0.294000													12	37					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38805225	38805225	+	Silent	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:38805225G>C	ENST00000310301.4	-	16	1338	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	VPS41_ENST00000395969.2_Silent_p.L403L	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	428					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATATTCCCAGAGTGCTGCAT	0.313000													23	54					0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962827	55962827	+	Silent	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:55962827G>C	ENST00000577830.1	-	2	512	c.99C>G	c.(97-99)ctC>ctG	p.L33L	CUEDC1_ENST00000407144.2_Silent_p.L33L|CUEDC1_ENST00000360238.2_Silent_p.L33L|CUEDC1_ENST00000577840.1_Intron	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	33										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GGCTGTTGTTGAGCTCCTggg	0.692000													21	23					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160889488	160889488	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:160889488C>T	ENST00000283243.7	-	4	1029	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E275K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	275	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAATTTTCTTCAGTTTCATCT	0.368000													29	73					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847597	130847597	+	Silent	SNP	C	C	T	rs143082104	byFrequency	TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:130847597C>T	ENST00000245255.3	+	18	2375	c.2103C>T	c.(2101-2103)cgC>cgT	p.R701R		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	701	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCGTGTACCGCGATGGCGTAG	0.483000													34	79					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906312	5906312	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:5906312C>G	ENST00000316987.2	+	1	812	c.790C>G	c.(790-792)Cgt>Ggt	p.R264G		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACACATCGTTTTGGCCA	0.428000													39	116					0	0	1	0	0
RELL2	285613	broad.mit.edu	37	5	141018424	141018424	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:141018424G>A	ENST00000297164.3	+	2	1447	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.E17K|RELL2_ENST00000444782.1_Missense_Mutation_p.E83K|RELL2_ENST00000518856.1_Missense_Mutation_p.E17K	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	83						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCAGAATGAAGGTGGGTC	0.512000													15	44					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586422	189586422	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:189586422G>A	ENST00000264731.3	+	8	1135	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	TP63_ENST00000456148.1_Missense_Mutation_p.G255E|TP63_ENST00000382063.4_Missense_Mutation_p.G264E|TP63_ENST00000440651.2_Missense_Mutation_p.G349E|TP63_ENST00000437221.1_Missense_Mutation_p.G255E|TP63_ENST00000449992.1_Missense_Mutation_p.G170E|TP63_ENST00000418709.2_Missense_Mutation_p.G349E|TP63_ENST00000392463.2_Missense_Mutation_p.G255E|TP63_ENST00000320472.5_Missense_Mutation_p.G349E|TP63_ENST00000392460.3_Missense_Mutation_p.G349E|TP63_ENST00000392461.3_Missense_Mutation_p.G255E|TP63_ENST00000354600.5_Missense_Mutation_p.G255E	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	349					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCTTGCCCAGGAAGAGACAGG	0.488000										HNSCC(45;0.13)			19	32					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112045897	112045897	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:112045897A>G	ENST00000241356.4	-	1	485	c.80T>C	c.(79-81)aTa>aCa	p.I27T	ADORA3_ENST00000369716.4_Missense_Mutation_p.I27T|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	27					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GTTGCCCACTATGGCGCAGAG	0.522000													10	23					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41551505	41551505	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr8:41551505C>T	ENST00000396942.1	-	29	3526	c.3443G>A	c.(3442-3444)cGg>cAg	p.R1148Q	ANK1_ENST00000289734.7_Missense_Mutation_p.R1148Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R1148Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R1148Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R1189Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1148Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R1148Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1148					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TAGTGGGATCCGAAGCCCAAT	0.642000													5	18					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32457121	32457121	+	Nonstop_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:32457121C>G	ENST00000379882.1	-	17	2799	c.2642G>C	c.(2641-2643)tGa>tCa	p.*881S	DDX58_ENST00000379868.1_Nonstop_Mutation_p.*723S|DDX58_ENST00000542096.1_Nonstop_Mutation_p.*855S|DDX58_ENST00000379883.2_Nonstop_Mutation_p.*926S			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	0	Repressor domain.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GACCTGATATCATTTGGACAT	0.423000													19	47					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598223	49598223	+	RNA	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:49598223C>G	ENST00000527477.1	+	0	827																											CCAAGAAGCCCATAGTAGGGG	0.493000													10	22					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55282768	55282768	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:55282768C>G	ENST00000358193.3	+	9	1211	c.1157C>G	c.(1156-1158)tCa>tGa	p.S386*	C1orf177_ENST00000371273.3_Nonsense_Mutation_p.S386*	NM_152607.2	NP_689820	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	386										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CGCTACCTCTCAGACCTGGCC	0.617000													12	28					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202394796	202394796	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:202394796G>A	ENST00000608999.1	+	4	797	c.644G>A	c.(643-645)cGc>cAc	p.R215H	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.R215H|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R215H|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.R215H	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGGCAGGCTCGCTCAGGGGCT	0.517000													58	144					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59012740	59012740	+	Silent	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:59012740G>C	ENST00000263093.2	-	4	1204	c.1095C>G	c.(1093-1095)tcC>tcG	p.S365S	SLC27A5_ENST00000601355.1_Silent_p.S281S	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	365					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCCAGAAGCAGGAAGTAGAGA	0.537000													9	83					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46105896	46105896	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:46105896G>T	ENST00000355105.3	-	8	2090	c.730C>A	c.(730-732)Cca>Aca	p.P244T	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.P244T	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GAAGGAGGTGGTACAGGCTTA	0.403000													32	65					8.16721e-17	8.58249e-17	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137582861	137582861	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:137582861G>A	ENST00000371817.3	+	2	627	c.213G>A	c.(211-213)ccG>ccA	p.P71P	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	71	TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGGCCCGGATGTCGCTT	0.557000													9	39					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116599880	116599880	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:116599880G>C	ENST00000410059.1	+	26	2830	c.2350G>C	c.(2350-2352)Gaa>Caa	p.E784Q	DPP10_ENST00000409163.1_Missense_Mutation_p.E734Q|DPP10_ENST00000393147.2_Missense_Mutation_p.E788Q|DPP10_ENST00000310323.8_Missense_Mutation_p.E777Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	784					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTGAAGGAAGAAATATCTGT	0.383000													16	27					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:7577105G>A	ENST00000420246.2	-	8	965	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_ENST00000269305.4_Missense_Mutation_p.P278L|TP53_ENST00000455263.2_Missense_Mutation_p.P278L|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278L|TP53_ENST00000359597.4_Missense_Mutation_p.P278L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTCTCCCAGGACAGGCACA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	14					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213302960	213302960	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:213302960C>T	ENST00000366960.3	+	6	713	c.563C>T	c.(562-564)tCt>tTt	p.S188F	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S176F|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S7F|RPS6KC1_ENST00000543354.1_Intron	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	188					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATCAAAATTCTCCCATTAGA	0.418000													19	47					0	0	1	0	0
RPL10	6134	broad.mit.edu	37	X	153629057	153629057	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chrX:153629057G>C	ENST00000424325.2	+	7	695	c.507G>C	c.(505-507)aaG>aaC	p.K169N	RPL10_ENST00000406022.2_Missense_Mutation_p.K118N|RPL10_ENST00000369817.2_Missense_Mutation_p.K169N	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	169					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACATCTCAAAGAAGTGGGGCT	0.527000													23	14					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133257861	133257861	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:133257861C>G	ENST00000320574.5	-	2	110	c.67G>C	c.(67-69)Gat>Cat	p.D23H	POLE_ENST00000535270.1_Missense_Mutation_p.D23H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	23					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTGGCGCCATCATCCCTGAGT	0.483000								DNA polymerases (catalytic subunits)					20	62					0	0	1	0	0
SH3YL1	26751	broad.mit.edu	37	2	233104	233104	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:233104C>G	ENST00000403657.1	-	9	2437	c.242G>C	c.(241-243)aGa>aCa	p.R81T	SH3YL1_ENST00000403658.1_Missense_Mutation_p.R81T|SH3YL1_ENST00000356150.5_Missense_Mutation_p.R177T|SH3YL1_ENST00000415006.2_Missense_Mutation_p.R81T|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000403712.2_Missense_Mutation_p.R177T|SH3YL1_ENST00000405430.1_Missense_Mutation_p.R177T			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	177										large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		AACTGACTTTCTATTAGTTTC	0.358000													10	30					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56871558	56871558	+	Silent	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr16:56871558G>C	ENST00000564887.1	+	16	2198	c.1569G>C	c.(1567-1569)ctG>ctC	p.L523L	NUP93_ENST00000308159.5_Silent_p.L646L|NUP93_ENST00000569842.1_Silent_p.L646L|NUP93_ENST00000542526.1_Silent_p.L523L	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	646					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACAAACTGCTGAGCCCTGTCG	0.468000													20	37					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148905872	148905872	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:148905872C>G	ENST00000264613.6	-	10	2093	c.1831G>C	c.(1831-1833)Gat>Cat	p.D611H	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	611	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AAGTCTTCATCTTCCTTATCC	0.333000													109	101					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73748741	73748741	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:73748741T>A	ENST00000334126.7	-	30	5889	c.5663A>T	c.(5662-5664)aAg>aTg	p.K1888M	C2CD3_ENST00000313663.7_Missense_Mutation_p.K1888M			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1888						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTCAGATTCTTCCTATAAAC	0.483000													4	12					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176305478	176305478	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:176305478G>C	ENST00000329542.4	+	13	2296	c.2022G>C	c.(2020-2022)gaG>gaC	p.E674D	UNC5A_ENST00000261961.3_Missense_Mutation_p.E634D	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	674					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCATCAGGAGATCCCCTTTT	0.612000													3	49					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41640972	41640972	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr4:41640972C>G	ENST00000313860.7	+	9	1013	c.959C>G	c.(958-960)tCt>tGt	p.S320C	LIMCH1_ENST00000381753.4_Intron|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S161C|LIMCH1_ENST00000513024.1_Intron|LIMCH1_ENST00000509277.1_Intron|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S320C|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S320C|LIMCH1_ENST00000503057.1_Missense_Mutation_p.S705C|LIMCH1_ENST00000512820.1_Intron|LIMCH1_ENST00000508501.1_Missense_Mutation_p.S320C|LIMCH1_ENST00000514096.1_Intron|LIMCH1_ENST00000396595.3_Missense_Mutation_p.S166C	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	320					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACTCCTGTGTCTGATGACGCA	0.383000													5	115					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17169082	17169082	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr8:17169082G>C	ENST00000180173.5	-	9	1073	c.1039C>G	c.(1039-1041)Cag>Gag	p.Q347E	MTMR7_ENST00000398099.3_5'UTR|MTMR7_ENST00000521857.1_Missense_Mutation_p.Q347E	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	347	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAGCACACCTGAGCGGTCCTG	0.577000													69	152					0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657615	100657615	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:100657615G>C	ENST00000416321.1	-	2	216	c.214C>G	c.(214-216)Cag>Gag	p.Q72E		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	72	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						ACTTGGGCCTGAAGAGAGTGA	0.368000													4	85					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14995989	14995989	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:14995989C>T	ENST00000378289.4	-	1	442	c.21G>A	c.(19-21)caG>caA	p.Q7Q	DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378278.2_Silent_p.Q7Q			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	7					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ACTCGGCCATCTGCCCCTCGA	0.627000								Non-homologous end-joining					7	24					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144469117	144469117	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr4:144469117A>C	ENST00000283131.3	+	22	3271	c.2809A>C	c.(2809-2811)Ata>Cta	p.I937L		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	937					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TCAGCTGAGAATATCATATGG	0.289000													14	45					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14614029	14614029	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:14614029C>G	ENST00000544627.1	+	9	3103	c.2783C>G	c.(2782-2784)tCt>tGt	p.S928C	ATF7IP_ENST00000261168.4_Missense_Mutation_p.S920C|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S920C|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S919C|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S919C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	920					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGTACTTCGTCTGCTGCAGAA	0.403000													4	67					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137688262	137688262	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:137688262C>T	ENST00000371817.3	+	35	3256	c.2842C>T	c.(2842-2844)Cgg>Tgg	p.R948W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	948	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCCTGGTGAACGGGTAAGCAG	0.602000													19	57					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609918	105609918	+	Translation_Start_Site	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr6:105609918G>C	ENST00000254765.3	-	0	145				BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3							integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CACTGGAGTTGATGCTGATTA	0.428000													5	15					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764883	82764883	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:82764883C>T	ENST00000333891.9	-	3	2320	c.1983G>A	c.(1981-1983)ctG>ctA	p.L661L	PCLO_ENST00000423517.2_Silent_p.L661L	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGCAGTCTTCAGTTTGGGCT	0.488000													4	17					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586405	189586405	+	Silent	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:189586405G>C	ENST00000264731.3	+	8	1118	c.1029G>C	c.(1027-1029)cgG>cgC	p.R343R	TP63_ENST00000456148.1_Silent_p.R249R|TP63_ENST00000382063.4_Silent_p.R258R|TP63_ENST00000440651.2_Silent_p.R343R|TP63_ENST00000437221.1_Silent_p.R249R|TP63_ENST00000449992.1_Silent_p.R164R|TP63_ENST00000418709.2_Silent_p.R343R|TP63_ENST00000392463.2_Silent_p.R249R|TP63_ENST00000320472.5_Silent_p.R343R|TP63_ENST00000392460.3_Silent_p.R343R|TP63_ENST00000392461.3_Silent_p.R249R|TP63_ENST00000354600.5_Silent_p.R249R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	343			R -> Q (in EEC3).|R -> W (in EEC3).		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTGAGGCCCGGATCTGTGCTT	0.493000										HNSCC(45;0.13)			14	31					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144930941	144930941	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:144930941C>T	ENST00000529945.1	-	1	1207	c.768G>A	c.(766-768)caG>caA	p.Q256Q	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Silent_p.Q256Q|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1459					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCATCTTTCTGTTGTGGAG	0.507000			T	PDGFRB	MPD								5	86					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138289995	138289995	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:138289995G>A	ENST00000264982.3	-	5	431	c.165C>T	c.(163-165)ctC>ctT	p.L55L	CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Silent_p.L55L|CEP70_ENST00000542237.1_Silent_p.L35L|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000464035.1_Silent_p.L55L|CEP70_ENST00000481834.1_Silent_p.L55L	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	55					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CAAAAATGATGAGATCTACAT	0.274000													36	23					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493544	102493544	+	Silent	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr14:102493544G>C	ENST00000360184.4	+	45	8969	c.8805G>C	c.(8803-8805)ctG>ctC	p.L2935L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2935	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACTTGCTTCTGATTGGTGTTA	0.463000													77	177					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160811560	160811560	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:160811560G>T	ENST00000368034.4	-	2	370	c.193C>A	c.(193-195)Cac>Aac	p.H65N	CD244_ENST00000322302.7_Missense_Mutation_p.H65N|CD244_ENST00000368032.2_Missense_Mutation_p.H65N|CD244_ENST00000368033.3_Missense_Mutation_p.H65N	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	65	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCAATATGTGATGAAATCCA	0.428000													6	65					0.00116845	0.00118275	1	1	0
NOD1	10392	broad.mit.edu	37	7	30490888	30490888	+	Silent	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:30490888G>C	ENST00000222823.4	-	6	2670	c.2145C>G	c.(2143-2145)ctC>ctG	p.L715L		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	715					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGTAGTCGTTGAGATTGTTGT	0.647000													14	48					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151134181	151134181	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:151134181C>T	ENST00000474524.1	+	41	6312	c.6274C>T	c.(6274-6276)Ctc>Ttc	p.L2092F	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2092	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACCCTTGGTCTCCAAGCAAT	0.547000													14	80					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045707	80045707	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:80045707G>T	ENST00000306749.2	-	19	3115	c.2897C>A	c.(2896-2898)cCc>cAc	p.P966H		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	966					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAAGAGCCTGGGGTCAGGGTC	0.667000													13	25					1.61879e-10	1.68681e-10	1	1	0
DHX40	79665	broad.mit.edu	37	17	57652778	57652778	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:57652778G>C	ENST00000451169.2	+	7	981	c.622G>C	c.(622-624)Gat>Cat	p.D208H	DHX40_ENST00000251241.4_Missense_Mutation_p.D307H|DHX40_ENST00000425628.3_Missense_Mutation_p.D230H			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	307	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGATGTTCAAGATACCACCCT	0.303000													21	56					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47315469	47315469	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:47315469G>A	ENST00000342922.4	+	20	3694	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K	MADD_ENST00000311027.5_Missense_Mutation_p.E1151K|MADD_ENST00000407859.3_Missense_Mutation_p.E1090K|MADD_ENST00000349238.3_Missense_Mutation_p.E1133K|MADD_ENST00000406482.1_Missense_Mutation_p.E1070K|MADD_ENST00000402192.2_Missense_Mutation_p.E1113K|MADD_ENST00000395344.3_Missense_Mutation_p.E1070K|MADD_ENST00000395336.3_Missense_Mutation_p.E1151K|MADD_ENST00000405573.2_5'UTR|MADD_ENST00000402799.1_Missense_Mutation_p.E1070K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1151					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGACCTTGGTGAGACAGAGGA	0.498000													14	46					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134067676	134067676	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:134067676C>T	ENST00000359428.5	+	27	3800	c.3656C>T	c.(3655-3657)tCa>tTa	p.S1219L	NUP214_ENST00000411637.2_Missense_Mutation_p.S1209L|NUP214_ENST00000483497.2_Missense_Mutation_p.S45L|NUP214_ENST00000451030.1_Missense_Mutation_p.S1220L|RP11-544A12.8_ENST00000502188.1_RNA|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1219	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTTCTCCATCAGGGTCAGTA	0.348000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								14	70					0	0	1	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271219	26271219	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr6:26271219G>A	ENST00000305910.3	-	1	393	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	132					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCTCCCCACGAATGCGGCGA	0.502000													18	63					0	0	1	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971061	31971061	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr21:31971061C>T	ENST00000334897.3	-	1	158	c.133G>A	c.(133-135)Ggc>Agc	p.G45S		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	45						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AAGCGGGAGCCGTAGCCATGA	0.562000													10	30					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33895328	33895328	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr15:33895328C>T	ENST00000389232.4	+	18	1997	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W	RYR3_ENST00000415757.3_Missense_Mutation_p.R643W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	643	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTCAGTATCCGGCCAAACAT	0.512000													19	49					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135101642	135101642	+	Silent	SNP	G	G	A	rs145076825		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:135101642G>A	ENST00000368563.2	-	11	2069	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	TUBGCP2_ENST00000417178.2_Silent_p.D441D|TUBGCP2_ENST00000252936.3_Silent_p.D571D|TUBGCP2_ENST00000368562.1_Silent_p.D164D|TUBGCP2_ENST00000543663.1_Silent_p.D599D	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	571					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCTTGAGGTCGTCCTTGAAGG	0.697000													13	32					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211279	59211279	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:59211279C>T	ENST00000302030.2	+	1	663	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S213L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GGAGGAACATCGTTCCTCCAA	0.542000													43	91					0	0	1	0	0
CLDN11	5010	broad.mit.edu	37	3	170150402	170150402	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:170150402G>A	ENST00000064724.3	+	3	684	c.482G>A	c.(481-483)gGc>gAc	p.G161D	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Intron	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	161					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTGTATGCAGGCTGGATTGGT	0.592000													11	116					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103495476	103495476	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chrX:103495476G>A	ENST00000372588.4	-	4	737	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	218					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCCCACCCAAGAACATGTCCA	0.512000													4	85					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150873259	150873259	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:150873259G>A	ENST00000422024.1	-	5	1604	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	ASB10_ENST00000275838.1_Silent_p.L410L|ASB10_ENST00000377867.3_Silent_p.L433L|ASB10_ENST00000434669.1_Silent_p.L455L|ASB10_ENST00000420175.2_Silent_p.L448L	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	448					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGCAGGGGGAGGCGGGGCA	0.677000													11	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474555	179474555	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:179474555C>T	ENST00000589042.1	-	272	51819	c.51595G>A	c.(51595-51597)Gaa>Aaa	p.E17199K	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14631K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8134K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15558K|TTN_ENST00000359218.5_Missense_Mutation_p.E8259K|TTN_ENST00000342175.6_Missense_Mutation_p.E8326K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15558	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGGTGTTCATTGCATCTC	0.463000													5	375					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	31087616	31087616	+	Silent	SNP	G	G	A	rs147504723		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:31087616G>A	ENST00000318217.5	-	9	1369	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	MYO1D_ENST00000583621.1_Silent_p.I355I|MYO1D_ENST00000394649.4_Silent_p.I267I|MYO1D_ENST00000579584.1_Silent_p.I355I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	355	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TGCGAGTAACGATCCAACAAA	0.383000													28	79					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964457	94964457	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr14:94964457C>T	ENST00000341228.2	-	3	1073	c.278G>A	c.(277-279)aGc>aAc	p.S93N	SERPINA12_ENST00000556881.1_Missense_Mutation_p.S93N	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	93					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTCCAGGGTGCTGTCCTGGGC	0.517000													11	57					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57036530	57036530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:57036530G>A	ENST00000308031.5	+	5	1227	c.1094G>A	c.(1093-1095)tGg>tAg	p.W365*	ZNF471_ENST00000591537.1_Missense_Mutation_p.G225R|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATTCGTCACTGGAGGAGTTAT	0.398000													29	78					0	0	1	0	0
CENPO	79172	broad.mit.edu	37	2	25022647	25022647	+	Silent	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:25022647C>G	ENST00000380834.2	+	3	575	c.150C>G	c.(148-150)acC>acG	p.T50T	CENPO_ENST00000260662.1_Silent_p.T50T|CENPO_ENST00000473706.1_Silent_p.T44T			Q9BU64	CENPO_HUMAN	centromere protein O	50					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTCTTGGAACCAAGATTCATA	0.542000													29	68					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180328085	180328085	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:180328085C>T	ENST00000296015.4	+	12	2200	c.2068C>T	c.(2068-2070)Cac>Tac	p.H690Y	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	690							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAATACGCTCACTCTGGATC	0.408000													9	86					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38126596	38126596	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr21:38126596C>T	ENST00000399120.1	-	12	3362	c.2132G>A	c.(2131-2133)gGc>gAc	p.G711D	HLCS_ENST00000336648.4_Missense_Mutation_p.G711D	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	711					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GAAGGAGTTGCCGTCCGGGTG	0.627000													3	27					0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46216504	46216504	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr6:46216504C>T	ENST00000371374.1	-	3	546	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	RCAN2_ENST00000306764.7_Missense_Mutation_p.E119K|RCAN2_ENST00000330430.6_Missense_Mutation_p.E73K|RCAN2_ENST00000405162.1_Missense_Mutation_p.E119K	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	73					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AATTGGGTTTCATGAAGCTCT	0.378000													17	40					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141323201	141323201	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr4:141323201C>T	ENST00000325617.5	-	6	879	c.439G>A	c.(439-441)Gat>Aat	p.D147N	CLGN_ENST00000537281.1_Missense_Mutation_p.D147N|CLGN_ENST00000414773.1_Missense_Mutation_p.D147N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	147					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCAATACCATCTTGAAAATTT	0.269000													11	28					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308801	248308801	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:248308801A>T	ENST00000366476.1	+	1	352	c.352A>T	c.(352-354)Atg>Ttg	p.M118L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTTGGCTGTTATGTCTTATGA	0.443000													45	253					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236729993	236729993	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:236729993C>G	ENST00000366582.3	-	30	4375	c.4261G>C	c.(4261-4263)Gaa>Caa	p.E1421Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1340Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1421					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACATACTGTTCAAAAAGCAAG	0.488000													10	20					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													3	19					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125889610	125889610	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:125889610T>C	ENST00000392693.3	-	4	527	c.400A>G	c.(400-402)Aaa>Gaa	p.K134E	CDON_ENST00000263577.7_Missense_Mutation_p.K134E	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	134	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCAGCACTTTTTTCTTCTGCT	0.398000													39	64					0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20781775	20781775	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr22:20781775C>G	ENST00000405555.3	-	10	1673	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q	SCARF2_ENST00000266214.5_Missense_Mutation_p.E540Q	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	535					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGGGCTGCTCCAGCCCTGAG	0.602000													9	11					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55364911	55364911	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr18:55364911G>C	ENST00000536015.1	-	8	756	c.637C>G	c.(637-639)Ctc>Gtc	p.L213V	ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.L213V	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	213					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GACAGCAGGAGAATGTCAGCC	0.512000													3	72					0	0	1	0	0
IK	3550	broad.mit.edu	37	5	140038573	140038573	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:140038573C>T	ENST00000417647.2	+	12	1139	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	334					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGACACCTCgggacaagga	0.522000													9	35					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912444	32912444	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr13:32912444G>A	ENST00000544455.1	+	11	4179	c.3952G>A	c.(3952-3954)Gaa>Aaa	p.E1318K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1318K	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1318					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAGAAATACTGAAAATGAAGA	0.264000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			3	48					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26781309	26781309	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:26781309G>C	ENST00000376236.4	+	3	509	c.54G>C	c.(52-54)gaG>gaC	p.E18D	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E18D	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	18					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGCTGGGAGAGATGGATCTTC	0.388000													22	62					0	0	1	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636501	43636501	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:43636501G>C	ENST00000431635.2	-	5	686	c.538C>G	c.(538-540)Cag>Gag	p.Q180E	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.Q125E	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	125					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTTTGAGCTGATGGAGGCGG	0.498000													5	154					0	0	1	0	0
HDGF	3068	broad.mit.edu	37	1	156721162	156721162	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:156721162C>T	ENST00000357325.5	-	1	374	c.60G>A	c.(58-60)atG>atA	p.M20I	PRCC_ENST00000491853.1_Intron|HDGF_ENST00000368206.5_Intron|HDGF_ENST00000537739.1_Missense_Mutation_p.M20I|HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368209.5_Intron	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	20	PWWP.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GGTAGCCCTTCATCTTGGCGA	0.721000													7	37					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8084001	8084001	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:8084001A>G	ENST00000075120.7	-	4	590	c.350T>C	c.(349-351)gTt>gCt	p.V117A		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	117					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAGCATTTCAACCGACTTAGC	0.493000													22	52					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595619	216595619	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:216595619C>T	ENST00000366943.2	-	2	446	c.60G>A	c.(58-60)ttG>ttA	p.L20L	USH2A_ENST00000366942.3_Silent_p.L20L|USH2A_ENST00000307340.3_Silent_p.L20L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	20					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGCAAAGATCAACATTTCAA	0.413000										HNSCC(13;0.011)			25	38					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53783393	53783393	+	Missense_Mutation	SNP	T	T	C	rs146540139		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:53783393T>C	ENST00000288139.4	+	28	3591	c.3473T>C	c.(3472-3474)aTt>aCt	p.I1158T	CACNA1D_ENST00000540742.1_Missense_Mutation_p.I45T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1138T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1138T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit		Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TACATCATCATTGTAGCTTTC	0.418000													11	54					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107391188	107391188	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr6:107391188C>T	ENST00000429433.2	-	5	1856	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	BEND3_ENST00000369042.1_Missense_Mutation_p.E403K	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	403	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GAGGAGGCTTCGTCCAGGAAC	0.617000													3	64					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3048523	3048523	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:3048523C>G	ENST00000448120.2	+	11	1293	c.1242C>G	c.(1240-1242)ttC>ttG	p.F414L	TULP3_ENST00000397132.2_Missense_Mutation_p.F414L	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	414					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ATGACGTGTTCACACTGGATT	0.438000													6	182					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4576232	4576232	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:4576232G>A	ENST00000301396.4	-	16	2711	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L	PELP1_ENST00000574876.1_Missense_Mutation_p.S685L|PELP1_ENST00000572293.1_Missense_Mutation_p.S735L|PELP1_ENST00000436683.2_Missense_Mutation_p.S538L|PELP1_ENST00000269230.7_Splice_Site_p.S595L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	685	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGGGCCTGCTGAAGGCATGGG	0.692000													13	19					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19115078	19115078	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:19115078G>A	ENST00000601879.1	-	7	3125	c.2828C>T	c.(2827-2829)tCc>tTc	p.S943F	SUGP2_ENST00000452918.2_Missense_Mutation_p.S943F|SUGP2_ENST00000600377.1_Missense_Mutation_p.S957F|SUGP2_ENST00000337018.6_Missense_Mutation_p.S943F|SUGP2_ENST00000456085.2_Missense_Mutation_p.S712F			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	943					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTACCTGAGGAGGCCTGTGA	0.622000													4	26					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			23	37					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186502252	186502252	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:186502252G>A	ENST00000323963.5	+	2	125	c.61G>A	c.(61-63)Gat>Aat	p.D21N	EIF4A2_ENST00000440191.2_Missense_Mutation_p.D22N|EIF4A2_ENST00000356531.5_De_novo_Start_InFrame			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	21					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AATGGACCCCGATGGTGTCAT	0.488000			T	BCL6	NHL								70	62					0	0	1	0	0
NAP1L1	4673	broad.mit.edu	37	12	76462743	76462743	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:76462743C>G	ENST00000261182.8	-	3	535	c.49G>C	c.(49-51)Gat>Cat	p.D17H	NAP1L1_ENST00000552342.1_Missense_Mutation_p.D17H|NAP1L1_ENST00000548044.1_5'UTR|NAP1L1_ENST00000542344.1_Intron|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D17H|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D17H|NAP1L1_ENST00000431879.3_5'UTR|NAP1L1_ENST00000547773.1_Intron|NAP1L1_ENST00000544816.1_Intron|NAP1L1_ENST00000393263.3_Missense_Mutation_p.D17H	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	17	Asp/Glu-rich (acidic).				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TCAACATCATCCAAATCTTGA	0.338000													34	172					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20000094	20000094	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:20000094G>C	ENST00000395529.3	+	2	182	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	SPECC1_ENST00000261503.5_Missense_Mutation_p.E44Q|SPECC1_ENST00000395527.4_Missense_Mutation_p.E44Q|SPECC1_ENST00000472876.1_Intron	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	44						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CTTGGCTTTTGAGTCCCGACT	0.587000													24	39					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21806533	21806533	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:21806533G>A	ENST00000449193.2	-	4	2471	c.219C>T	c.(217-219)atC>atT	p.I73I	SKIDA1_ENST00000444772.3_Silent_p.I73I	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		CGTGGAAGGCGATGCTGTTAA	0.577000													10	15					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30528026	30528026	+	Silent	SNP	A	A	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:30528026A>G	ENST00000358365.3	+	14	1379	c.1152A>G	c.(1150-1152)ctA>ctG	p.L384L	RHOT1_ENST00000333942.6_Silent_p.L384L|RHOT1_ENST00000581094.1_Silent_p.L384L|RHOT1_ENST00000394692.2_Silent_p.L384L|RHOT1_ENST00000583994.1_Silent_p.L257L|RHOT1_ENST00000354266.3_Silent_p.L363L|RHOT1_ENST00000545287.2_Silent_p.L384L	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	384					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGGGCTATCTAGGCTATTCAA	0.353000													4	85					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157874045	157874045	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:157874045G>A	ENST00000389413.3	-	10	1684	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	PTPRN2_ENST00000389418.4_Silent_p.F556F|PTPRN2_ENST00000409483.1_Silent_p.F518F|PTPRN2_ENST00000389416.4_Silent_p.F539F|PTPRN2_ENST00000404321.2_Silent_p.F579F	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	556						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGCTCACTTTGAAGGTCACTG	0.493000													18	68					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626776	140626776	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:140626776G>A	ENST00000231173.3	+	1	1630	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		544	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAGCAGCGAGGCGCTGGT	0.697000													21	53					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491056	30491056	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:30491056G>C	ENST00000222823.4	-	6	2502	c.1977C>G	c.(1975-1977)atC>atG	p.I659M		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	659					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GTGTCTCGTAGATGCAGCGCA	0.637000													9	26					0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40765719	40765719	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:40765719C>A	ENST00000251413.3	+	7	723	c.661C>A	c.(661-663)Cag>Aag	p.Q221K		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	221					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CCTGCACATCCAGAACCCATC	0.567000													22	87					1.64293e-13	1.71919e-13	1	1	0
TANC1	85461	broad.mit.edu	37	2	160043418	160043418	+	Silent	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:160043418C>G	ENST00000263635.6	+	16	2862	c.2625C>G	c.(2623-2625)ctC>ctG	p.L875L	TANC1_ENST00000454300.1_Silent_p.L769L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	875						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCAGGGCCTCAGTAAGAAGA	0.552000													13	55					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149483202	149483202	+	RNA	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:149483202G>A	ENST00000378016.2	+	0	3270							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAATGGGGTGAGCGTGACGC	0.637000													5	12					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115661	47115661	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:47115661G>A	ENST00000290341.3	+	6	867	c.533G>A	c.(532-534)cGc>cAc	p.R178H	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	178					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGTCAGCCCCGCCAGGGCTCA	0.642000													19	20					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								5	70					0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31226446	31226446	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr16:31226446C>T	ENST00000322122.3	+	2	671	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	129					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	p.L129L(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						ACGCACGCCTCAAGGTGCGGG	0.692000													4	17					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51308328	51308328	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:51308328G>C	ENST00000266037.9	+	24	2461	c.2438G>C	c.(2437-2439)aGa>aCa	p.R813T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	813						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGTTTGTGAGAGGGACACTG	0.527000													18	33					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21218205	21218205	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr16:21218205G>A	ENST00000574002.1	-	6	919	c.437C>T	c.(436-438)aCc>aTc	p.T146I	ZP2_ENST00000219593.4_Missense_Mutation_p.T146I|ZP2_ENST00000574091.1_Missense_Mutation_p.T146I			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	146					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGCCCCTGGGTCTCTTCTAC	0.498000													36	64					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100390072	100390072	+	RNA	SNP	A	A	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:100390072A>G	ENST00000542585.1	+	0	7903				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAAGAGAGCAAGAGGAGCTGC	0.672000													14	25					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221240	48221240	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr16:48221240G>A	ENST00000394747.1	-	20	3154	c.2805C>T	c.(2803-2805)ccC>ccT	p.P935P	ABCC11_ENST00000394748.1_Silent_p.P935P|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.P935P|ABCC11_ENST00000356608.2_Silent_p.P935P|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	935	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTGAAAAGATGGGCAAGAGCT	0.507000													15	31					0	0	1	0	0
C11orf74	119710	broad.mit.edu	37	11	36680736	36680736	+	Nonstop_Mutation	SNP	A	A	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:36680736A>T	ENST00000334307.5	+	6	781	c.666A>T	c.(664-666)tgA>tgT	p.*222C	C11orf74_ENST00000534635.1_Nonstop_Mutation_p.*148C|C11orf74_ENST00000347206.4_Nonstop_Mutation_p.*148C|C11orf74_ENST00000446510.2_Intron	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	0										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				CCTGTGACTGATTCACAGAGG	0.383000													9	43					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14498674	14498674	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:14498674G>T	ENST00000344204.4	+	53	8281	c.8257G>T	c.(8257-8259)Gat>Tat	p.D2753Y	TRIO_ENST00000537187.1_Missense_Mutation_p.D2577Y|TRIO_ENST00000344135.5_Missense_Mutation_p.D252Y	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2753	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GACCACGGAAGATGACGGCAT	0.577000													20	54					4.63292e-17	4.88921e-17	1	1	0
YDJC	150223	broad.mit.edu	37	22	21984216	21984216	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr22:21984216G>A	ENST00000292778.6	-	1	137	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	YDJC_ENST00000398873.3_Silent_p.L30L	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	30					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds					Colorectal(54;0.105)					GCCCCGGCCAGAAAGGCCTCC	0.706000													3	3					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40916690	40916690	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr15:40916690C>G	ENST00000346991.5	+	11	4696	c.4306C>G	c.(4306-4308)Ctg>Gtg	p.L1436V	CASC5_ENST00000399668.2_Missense_Mutation_p.L1410V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1436					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TAGTCAAGATCTGGGGGAGAT	0.353000													24	71					0	0	1	0	0
FXYD3	5349	broad.mit.edu	37	19	35610278	35610278	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:35610278G>A	ENST00000604255.1	+	4	316	c.169G>A	c.(169-171)Gac>Aac	p.D57N	FXYD3_ENST00000603449.1_5'UTR|FXYD3_ENST00000406988.1_5'UTR|FXYD3_ENST00000535103.1_Missense_Mutation_p.D57N|FXYD3_ENST00000344013.6_5'UTR|FXYD3_ENST00000435734.2_5'UTR|FXYD3_ENST00000454903.2_5'UTR|FXYD3_ENST00000346446.5_5'UTR|FXYD3_ENST00000604621.1_5'UTR|FXYD3_ENST00000406242.3_5'UTR|FXYD3_ENST00000605550.1_5'UTR|FXYD3_ENST00000604404.1_5'UTR|FXYD3_ENST00000604804.1_5'UTR|FXYD3_ENST00000603524.1_5'UTR|FXYD3_ENST00000605552.1_5'UTR|FXYD3_ENST00000605677.1_5'UTR|FXYD3_ENST00000603181.1_5'UTR	NM_001136007.1	NP_001129479.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	0						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCAGCGCTCTGACATGCAGAA	0.657000													6	65					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55697321	55697321	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:55697321G>A	ENST00000376350.3	-	17	2832	c.2810C>T	c.(2809-2811)tCg>tTg	p.S937L	PTPRH_ENST00000263434.5_Missense_Mutation_p.S759L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	937	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCAGGGCTGCGAGTCCAGAGG	0.612000													22	96					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50945875	50945875	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:50945875C>T	ENST00000374103.4	-	20	2632	c.2547G>A	c.(2545-2547)ctG>ctA	p.L849L	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Silent_p.L640L|OGDHL_ENST00000419399.1_Silent_p.L792L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	849					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTGGGTGCCTCAGCAGAGATT	0.617000													21	65					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67514680	67514680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr8:67514680C>T	ENST00000522677.3	-	2	509	c.99G>A	c.(97-99)tgG>tgA	p.W33*	MYBL1_ENST00000517885.1_Nonsense_Mutation_p.W33*|MYBL1_ENST00000524176.2_Nonsense_Mutation_p.W33*	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	33	HTH myb-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTACTCTGTTCCAGAGTTTCT	0.363000													14	45					0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120096466	120096466	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:120096466G>C	ENST00000328965.4	+	2	841	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	110										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GCAGCACAATGAGATCATCCC	0.642000													36	72					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26568407	26568407	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:26568407C>G	ENST00000381340.3	-	51	7551	c.7135G>C	c.(7135-7137)Gag>Cag	p.E2379Q	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2379					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGCAAAGTCTCTTCCCTGTAC	0.363000													17	58					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102496188	102496188	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr14:102496188G>C	ENST00000360184.4	+	50	9839	c.9675G>C	c.(9673-9675)aaG>aaC	p.K3225N		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3225	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGAGGATAAAGAGCCAAGAGC	0.473000													33	53					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74013060	74013060	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr4:74013060G>A	ENST00000358602.4	-	9	1773	c.1657C>T	c.(1657-1659)Cta>Tta	p.L553L	ANKRD17_ENST00000509867.2_Silent_p.L440L|ANKRD17_ENST00000514252.1_Intron|ANKRD17_ENST00000330838.6_Silent_p.L553L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	553					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCTTAATTAGAAAGTCTGCC	0.423000													4	51					0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54578975	54578975	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr20:54578975C>T	ENST00000064571.2	-	1	1553	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	85	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTGCTCATCTCGGATGGCTCG	0.647000													19	139					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16437329	16437329	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:16437329C>G	ENST00000380672.4	-	6	920	c.863G>C	c.(862-864)aGc>aCc	p.S288T	BNC2_ENST00000545497.1_Missense_Mutation_p.S193T|BNC2_ENST00000380666.2_Missense_Mutation_p.S288T|BNC2_ENST00000380667.2_Missense_Mutation_p.S221T	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCGATTATTGCTCTCAATGAA	0.463000													18	98					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6472522	6472522	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:6472522G>A	ENST00000425398.2	-	4	579	c.488C>T	c.(487-489)tCa>tTa	p.S163L	DAGLB_ENST00000436575.1_Silent_p.I208I|DAGLB_ENST00000297056.6_Silent_p.I249I|DAGLB_ENST00000421761.2_Missense_Mutation_p.S36L|DAGLB_ENST00000428902.2_Silent_p.I122I	NM_001142936.1	NP_001136408.1	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	0					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGTTGTTCCTGATATTGTCCT	0.572000													16	34					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31792255	31792255	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chrX:31792255G>A	ENST00000357033.4	-	51	7570	c.7364C>T	c.(7363-7365)gCc>gTc	p.A2455V	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.A2451V|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2455					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGGAGATGGCAGTTTCCTT	0.428000													3	42					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586431	189586431	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:189586431G>T	ENST00000264731.3	+	8	1144	c.1055G>T	c.(1054-1056)aGg>aTg	p.R352M	TP63_ENST00000456148.1_Missense_Mutation_p.R258M|TP63_ENST00000382063.4_Missense_Mutation_p.R267M|TP63_ENST00000440651.2_Missense_Mutation_p.R352M|TP63_ENST00000437221.1_Missense_Mutation_p.R258M|TP63_ENST00000449992.1_Missense_Mutation_p.R173M|TP63_ENST00000418709.2_Missense_Mutation_p.R352M|TP63_ENST00000392463.2_Missense_Mutation_p.R258M|TP63_ENST00000320472.5_Missense_Mutation_p.R352M|TP63_ENST00000392460.3_Missense_Mutation_p.R352M|TP63_ENST00000392461.3_Missense_Mutation_p.R258M|TP63_ENST00000354600.5_Missense_Mutation_p.R258M	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	352	Interaction with HIPK2.		R -> G (in EDRH and OFC8).		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GGAAGAGACAGGAAGGCGGAT	0.502000										HNSCC(45;0.13)			21	37					9.72345e-25	1.0394e-24	1	1	0
STMN2	11075	broad.mit.edu	37	8	80577108	80577108	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr8:80577108G>A	ENST00000220876.7	+	5	921	c.539G>A	c.(538-540)tGa>tAa	p.*180*	STMN2_ENST00000518111.1_3'UTR|STMN2_ENST00000518491.1_Silent_p.*169*	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	0					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CTGTCTGGCTGAAGCAAGGGA	0.483000													7	12					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88193896	88193896	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:88193896C>G	ENST00000357081.3	-	24	3425	c.3281G>C	c.(3280-3282)gGa>gCa	p.G1094A	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.G1054A|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.G1106A			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1094					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TCTTTGTACTCCTATTTCCCT	0.403000													5	90					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150176286	150176286	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:150176286C>G	ENST00000361875.3	+	4	3222	c.2206C>G	c.(2206-2208)Ctt>Gtt	p.L736V	TSC22D2_ENST00000361136.2_Missense_Mutation_p.L712V	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2								sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTTAAAATCTCTTTCAAGCAA	0.403000													9	117					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21826511	21826511	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr14:21826511C>T	ENST00000216297.2	-	20	2715	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	793					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCCAGTTCCTCCTTAGTTAGA	0.348000													7	23					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77330255	77330255	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:77330255C>G	ENST00000255194.6	-	24	2999	c.2824G>C	c.(2824-2826)Gag>Cag	p.E942Q	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Missense_Mutation_p.E893Q	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	942					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGGATCCCTCAGGCTCAAGA	0.343000									Hermansky-Pudlak syndrome				16	57					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766436	19766436	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:19766436C>T	ENST00000357324.6	-	10	1323	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	ATP13A1_ENST00000291503.5_Missense_Mutation_p.G315R	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	433					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTCTTGACCCCGAAGAGGATG	0.577000													4	14					0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35869568	35869568	+	Silent	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:35869568G>C	ENST00000377981.2	-	1	893	c.831C>G	c.(829-831)ctC>ctG	p.L277L		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CCATGGCATAGAGGACTGTGA	0.552000													17	38					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152763347	152763347	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr6:152763347C>G	ENST00000367255.5	-	31	4472	c.3871G>C	c.(3871-3873)Gat>Cat	p.D1291H	SYNE1_ENST00000423061.1_Missense_Mutation_p.D1298H|SYNE1_ENST00000413186.2_Missense_Mutation_p.D1291H|SYNE1_ENST00000367248.3_Missense_Mutation_p.D1281H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1291H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1357H|SYNE1_ENST00000367253.4_Missense_Mutation_p.D1291H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D1298H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1291					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTGCACATCTCTCTTCTTT	0.527000										HNSCC(10;0.0054)			20	40					0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3150215	3150215	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:3150215G>C	ENST00000262958.3	+	3	675	c.417G>C	c.(415-417)tgG>tgC	p.W139C	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	139					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGTGGCTGTGGAGGGATGCCG	0.632000													5	77					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151865777	151865777	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr6:151865777C>G	ENST00000367290.5	+	4	603	c.514C>G	c.(514-516)Ctg>Gtg	p.L172V	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.L172V			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	172																	TGAGGAATTTCTGACTCAACT	0.348000													8	51					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231101841	231101841	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:231101841G>C	ENST00000392045.3	+	2	217	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	SP140_ENST00000420434.3_Missense_Mutation_p.E35Q|SP140_ENST00000373645.3_Missense_Mutation_p.E35Q|SP140_ENST00000343805.6_Missense_Mutation_p.E35Q|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000417495.3_Missense_Mutation_p.E35Q|SP140_ENST00000486687.2_Missense_Mutation_p.E35Q|SP140_ENST00000350136.5_Missense_Mutation_p.E15Q	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	35	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAACCTGCAGGAGCAGGTTTG	0.478000													11	33					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212558747	212558747	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:212558747G>C	ENST00000261455.4	-	4	501	c.364C>G	c.(364-366)Cag>Gag	p.Q122E	TMEM206_ENST00000535273.1_Missense_Mutation_p.Q183E|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	122						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		AACTGGGCCTGACCGGGGTAC	0.532000													10	29					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501718	136501718	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr9:136501718G>A	ENST00000393056.2	+	1	237	c.225G>A	c.(223-225)caG>caA	p.Q75Q		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	75	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TCCATTTCCAGCTCCTGGTGC	0.632000													12	18					0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363162	17363162	+	Silent	SNP	C	C	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:17363162C>A	ENST00000377602.4	-	8	986	c.912G>T	c.(910-912)ctG>ctT	p.L304L		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	304					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CCAGATCTTTCAGGTACTTGG	0.448000													4	217					2.56e-06	2.62347e-06	1	1	0
DENND2A	27147	broad.mit.edu	37	7	140301638	140301638	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:140301638G>A	ENST00000275884.6	-	2	977	c.560C>T	c.(559-561)tCc>tTc	p.S187F	DENND2A_ENST00000492720.1_Missense_Mutation_p.S187F|DENND2A_ENST00000537639.1_Missense_Mutation_p.S187F|DENND2A_ENST00000496613.1_Missense_Mutation_p.S187F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	187										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCAGTGTGGGGAGTAACAAGT	0.612000													8	28					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413825	72413825	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr7:72413825C>T	ENST00000395270.1	+	14	3539	c.2498C>T	c.(2497-2499)aCg>aTg	p.T833M	POM121_ENST00000358357.3_Missense_Mutation_p.T833M|POM121_ENST00000446813.1_Missense_Mutation_p.T833M|POM121_ENST00000257622.4_Missense_Mutation_p.T833M|POM121_ENST00000434423.2_Missense_Mutation_p.T1098M	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1098	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TCACCCTTCACGTTTGGGGGT	0.642000													4	23					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411002	105411002	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr14:105411002C>T	ENST00000333244.5	-	7	10905	c.10786G>A	c.(10786-10788)Gat>Aat	p.D3596N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3596						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCGACATCGGGGACTCTC	0.612000													27	145					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101136	168101136	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr2:168101136T>A	ENST00000409195.1	+	9	3323	c.3234T>A	c.(3232-3234)agT>agA	p.S1078R	XIRP2_ENST00000295237.9_Missense_Mutation_p.S1078R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S856R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	903					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACAGAAAGTAAAACTGAAC	0.343000													10	29					0	0	1	0	0
MPP5	64398	broad.mit.edu	37	14	67779322	67779322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr14:67779322C>T	ENST00000261681.4	+	9	1781	c.1120C>T	c.(1120-1122)Caa>Taa	p.Q374*	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Nonsense_Mutation_p.Q340*	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	374	SH3.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TCTGTCTTTTCAAAAAGGTGA	0.428000													15	50					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756686	49756686	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr3:49756686G>A	ENST00000535833.1	-	10	3663	c.213C>T	c.(211-213)aaC>aaT	p.N71N	RNF123_ENST00000497099.1_Intron|RNF123_ENST00000433785.1_Intron|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.N71N|RNF123_ENST00000327697.6_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	71					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGGAGCGCGTTGTGGCTCA	0.677000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	53					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34618444	34618444	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr20:34618444C>T	ENST00000373973.3	+	12	1778	c.1605C>T	c.(1603-1605)tgC>tgT	p.C535C	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Silent_p.C531C					cyclic nucleotide binding domain containing 2																		TGGATTTGTGCAGCATCAACA	0.498000													5	253					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73261875	73261875	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:73261875G>A	ENST00000579002.1	+	4	1102	c.687G>A	c.(685-687)ctG>ctA	p.L229L	MRPS7_ENST00000245539.6_Silent_p.L200L			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	200					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGCGGACACTGATGCCGGAGA	0.582000													38	56					0	0	1	0	0
AL133481.1	0	broad.mit.edu	37	10	81270316	81270316	+	Missense_Mutation	SNP	C	C	T	rs141857846	by1000genomes	TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:81270316C>T	ENST00000538322.1	-	2	146	c.4G>A	c.(4-6)Gca>Aca	p.A2T																								TTCCTCTCTGCCATCTCCCTC	0.453000													10	10					0	0	1	0	0
SPATA1	100505741	broad.mit.edu	37	1	84991427	84991427	+	RNA	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:84991427C>G	ENST00000370638.2	+	0	575									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		ATTTGCTCCTCCATATGTATG	0.274000													10	51					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767298	57767298	+	Silent	SNP	C	C	T			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr20:57767298C>T	ENST00000371030.2	+	1	1224	c.1224C>T	c.(1222-1224)atC>atT	p.I408I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	408						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGAGCGCATCGCCCAGCTCA	0.731000													5	4					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48917311	48917311	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr19:48917311G>A	ENST00000263269.3	+	4	1237	c.1149G>A	c.(1147-1149)gtG>gtA	p.V383V		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	383						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCTTCCTAGTGAACCCCTCCC	0.592000													15	27					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34109136	34109136	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr15:34109136G>A	ENST00000389232.4	+	75	10646	c.10576G>A	c.(10576-10578)Gag>Aag	p.E3526K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3521K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3526					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCCTTTGAAGAGAAACTAGT	0.453000													5	15					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30738663	30738663	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr20:30738663G>A	ENST00000217315.5	+	12	1519	c.1179G>A	c.(1177-1179)aaG>aaA	p.K393K	TM9SF4_ENST00000398022.2_Silent_p.K410K			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	410						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCGGTGGAAGAAAGGAGCCT	0.542000													4	22					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527516	26527516	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr1:26527516C>G	ENST00000456354.2	+	8	1250	c.1183C>G	c.(1183-1185)Cga>Gga	p.R395G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	395					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGAGATCCGAGATGAACT	0.567000													22	51					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968393	28968393	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr18:28968393C>G	ENST00000359747.4	+	4	309	c.280C>G	c.(280-282)Cga>Gga	p.R94G	DSG4_ENST00000308128.4_Missense_Mutation_p.R94G|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	94	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGGATTGATCGACCACCATA	0.408000													11	39					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50290703	50290703	+	Silent	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr20:50290703G>A	ENST00000338821.5	-	11	1290	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	ATP9A_ENST00000311637.5_Silent_p.I206I|ATP9A_ENST00000402822.1_Silent_p.I221I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	342					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TAATGGGGATGATGTTGGAAA	0.498000													15	29					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98208137	98208137	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:98208137G>C	ENST00000284049.3	-	26	3843	c.3694C>G	c.(3694-3696)Cca>Gca	p.P1232A		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1232					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTTTCTTCTGGATCAGAAGGA	0.348000													15	40					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32852677	32852677	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr13:32852677G>A	ENST00000380250.3	+	58	8957	c.8461G>A	c.(8461-8463)Gaa>Aaa	p.E2821K	FRY_ENST00000542859.1_Missense_Mutation_p.E191K	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGGGGACTCCGAAGAAAAGGT	0.428000													4	136					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108714059	108714059	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:108714059C>G	ENST00000361189.2	-	4	1368	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	PJA2_ENST00000361557.3_Missense_Mutation_p.D377H	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	377					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TATGGTGGATCCAAGAACATA	0.413000													15	80					0	0	1	0	0
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	RNA	INS	-	-	TAAAA	rs80243332	by1000genomes	TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA																							acccatgcacttaaagttaaaa	0.361													3	4	---	---	---	---					
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2																						GCTTTTGGGGAAAAAAAAAAG	0.542													3	5	---	---	---	---					
RSF1	51773	broad.mit.edu	37	11	77531711	77531711	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr11:77531711delG	ENST00000308488.6	-	1	352	c.50delC	c.(49-51)ccgfs	p.P17fs	RSF1_ENST00000530604.1_5'UTR|RSF1_ENST00000360355.2_Frame_Shift_Del_p.P17fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	17	DDT.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCACGAACCCGGGCAGCCCGG	0.682													2	4	---	---	---	---					
ARHGEF25	115557	broad.mit.edu	37	12	58005763	58005763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr12:58005763delG	ENST00000286494.4	+	1	546	c.86delG	c.(85-87)cggfs	p.R29fs	ARHGEF25_ENST00000333972.7_Intron	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	29					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCTTCGCCCGGGGGGGACGT	0.682													2	4	---	---	---	---					
RP11-281J9.2	0	broad.mit.edu	37	16	78082435	78082435	+	RNA	DEL	T	T	-			TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr16:78082435delT	ENST00000563114.1	-	0	41																											GGTCTCAAGCTTCTTCACAAC	0.632													3	5	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													6	6	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-XF-AAN3-01A-11D-A42E-08	TCGA-XF-AAN3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c645096-a2da-48b0-add4-aa2b5a06f958	0de14572-bdb1-4d21-af08-c3ede2dc99a2	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000289292.7_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													4	7	---	---	---	---