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
FRMD4A	55691	broad.mit.edu	37	10	13736001	13736001	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:13736001G>A	ENST00000357447.2	-	15	1382	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	FRMD4A_ENST00000342409.2_Silent_p.A354A|FRMD4A_ENST00000358621.4_Silent_p.A323A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Silent_p.A338A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	338						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCAGGTCGATGGCGATCTCAC	0.572000													39	219					0	0	1	0	0
XIST	0	broad.mit.edu	37	X	73061360	73061360	+	RNA	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:73061360T>C	ENST00000429829.1	-	0	11228					NR_001564.2																						ACTGCTGTTGTGATGACTAGT	0.423000													39	358					0	0	1	0	0
USP29	0	broad.mit.edu	37	19	57641566	57641566	+	Missense_Mutation	SNP	T	T	A	rs145552693		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:57641566T>A	ENST00000254181.4	+	4	1977	c.1523T>A	c.(1522-1524)aTc>aAc	p.I508N	USP29_ENST00000598197.1_Missense_Mutation_p.I508N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	508					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGGTCCTTATCATTCATCTG	0.368000													5	434					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1633329	1633329	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:1633329G>A	ENST00000426508.2	-	12	1781	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	473										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACTCCGTATCGCGGCTCCAGA	0.567000													5	185					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33895400	33895400	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:33895400G>A	ENST00000389232.4	+	18	2069	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	RYR3_ENST00000415757.3_Missense_Mutation_p.D667N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	667	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)		GCTGATTATCGACCAGGTGGA	0.567000													37	533					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													8	79					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965572	7965572	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:7965572G>A	ENST00000306708.6	+	3	2266	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	722						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TTCTTCTGCCGCAAGCTGCGG	0.657000													5	245					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725368	11725368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:11725368C>T	ENST00000262442.3	+	46	8907	c.8839C>T	c.(8839-8841)Cga>Tga	p.R2947*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R2947*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2947	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCGGATCCGGCGACAGCTGAA	0.463000													17	130					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	243					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551638	99551638	+	Missense_Mutation	SNP	C	C	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:99551638C>G	ENST00000373034.4	-	6	4759	c.3084G>C	c.(3082-3084)gaG>gaC	p.E1028D	PCDH19_ENST00000420881.2_Missense_Mutation_p.E980D|PCDH19_ENST00000255531.7_Missense_Mutation_p.E981D	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1028					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TAGGCCTCTCCTCAGCCGGGT	0.577000													9	232					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													6	721					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52257685	52257685	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:52257685C>T	ENST00000597542.1	-	9	1676	c.719G>A	c.(718-720)cGc>cAc	p.R240H	TLR9_ENST00000360658.2_Missense_Mutation_p.R216H|TLR9_ENST00000494383.1_Silent_p.P369P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	216					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.R216H(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGGCAGGTTGCGGGGCACCAC	0.632000													6	120					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106229348	106229348	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:106229348G>A	ENST00000355610.4	-	4	665	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	MORC4_ENST00000255495.7_Missense_Mutation_p.R131W|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	131							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TTTCCTAGCCGCATGGAGCCT	0.473000													11	667					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12704277	12704277	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:12704277A>G	ENST00000380682.1	+	7	1141	c.635A>G	c.(634-636)aAt>aGt	p.N212S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	212	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TATCTGGAAAATGGGCAGACC	0.398000													10	365					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547000													5	235					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	250					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94641698	94641698	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:94641698C>T	ENST00000258526.4	+	13	2657	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	803					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TATTGTGTGGCGACTTACTGC	0.428000													26	584					0	0	1	0	0
MOK	5891	broad.mit.edu	37	14	102698927	102698927	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:102698927C>T	ENST00000361847.2	-	9	1042	c.811G>A	c.(811-813)Gat>Aat	p.D271N	MOK_ENST00000522867.1_Silent_p.P3P|MOK_ENST00000524370.1_Silent_p.P3P|MOK_ENST00000517966.1_Silent_p.P3P|MOK_ENST00000561150.1_Silent_p.P3P|MOK_ENST00000522534.1_Silent_p.P3P|MOK_ENST00000524214.1_Missense_Mutation_p.D241N|MOK_ENST00000523231.1_Silent_p.P3P|MOK_ENST00000522874.1_Missense_Mutation_p.D270N|MOK_ENST00000519058.1_Silent_p.P3P|MOK_ENST00000520266.1_Intron|MOK_ENST00000193029.6_Missense_Mutation_p.D37N	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	271	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.D271N(1)									ATTCTCTCATCGGGATCATAG	0.542000													34	416					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154134766	154134766	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:154134766G>A	ENST00000360256.4	-	15	5502	c.5302C>T	c.(5302-5304)Cgt>Tgt	p.R1768C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1768	F5/8 type A 3.|Plastocyanin-like 5.		R -> H (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTTCTCCACGGTATAAGGGC	0.423000													33	563					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19838947	19838947	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:19838947C>T	ENST00000507958.1	-	5	1139	c.149G>A	c.(148-150)cGt>cAt	p.R50H	CDH18_ENST00000506372.1_Missense_Mutation_p.R50H|CDH18_ENST00000511273.1_Missense_Mutation_p.R50H|CDH18_ENST00000502796.1_Missense_Mutation_p.R50H|CDH18_ENST00000382275.1_Missense_Mutation_p.R50H|CDH18_ENST00000274170.4_Missense_Mutation_p.R50H			Q13634	CAD18_HUMAN	cadherin 18, type 2	50					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTTTTGGGACGATGATGGAC	0.418000													24	284					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													4	158					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11193143	11193143	+	Missense_Mutation	SNP	C	C	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:11193143C>G	ENST00000361445.4	-	38	5434	c.5358G>C	c.(5356-5358)tgG>tgC	p.W1786C	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1786	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCACCTTGTACCAGCTGCGGT	0.577000													33	388					0	0	1	0	0
GOLGA8F	0	broad.mit.edu	37	15	28632820	28632820	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:28632820T>C	ENST00000526619.2	+	14	1761	c.746T>C	c.(745-747)cTg>cCg	p.L249P	GOLGA8F_ENST00000337838.7_Intron|GOLGA8F_ENST00000532622.2_Missense_Mutation_p.L463P|GOLGA8F_ENST00000450328.2_Missense_Mutation_p.L245P																lung(4)	4						CCACAGGACCTGGAGAGCAGG	0.617000													6	215					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090249	115090249	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr13:115090249C>T	ENST00000361283.1	+	3	1241	c.932C>T	c.(931-933)tCt>tTt	p.S311F		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	311	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TCACCAGGCTCTTGGAAACCA	0.582000													6	176					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34663857	34663857	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:34663857C>T	ENST00000374789.3	-	11	1938	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	PARD3_ENST00000374776.1_Missense_Mutation_p.G538E|PARD3_ENST00000545693.1_Missense_Mutation_p.G538E|PARD3_ENST00000545260.1_Missense_Mutation_p.G494E|PARD3_ENST00000374773.1_Missense_Mutation_p.G538E|PARD3_ENST00000374790.3_Missense_Mutation_p.G494E|PARD3_ENST00000374794.3_Missense_Mutation_p.G494E|PARD3_ENST00000374788.3_Missense_Mutation_p.G538E|PARD3_ENST00000350537.4_Missense_Mutation_p.G538E|PARD3_ENST00000340077.5_Missense_Mutation_p.G538E|PARD3_ENST00000544292.1_Missense_Mutation_p.G268E|PARD3_ENST00000346874.4_Missense_Mutation_p.G538E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	538	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCTCACAGTTCCTTCCATCTT	0.438000													7	530					0	0	1	0	0
TMLHE	55217	broad.mit.edu	37	X	154741370	154741370	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:154741370C>T	ENST00000334398.3	-	5	867	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	TMLHE_ENST00000369439.4_Missense_Mutation_p.R241Q|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	241					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTCAGTGTGCCGATCCAGAGC	0.413000													7	526					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597000													7	163					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													6	286					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98533290	98533290	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:98533290C>T	ENST00000359863.4	+	28	4312	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1368					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTACGAATTGCGGCATTAAGT	0.393000													5	229					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628320	29628320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr20:29628320G>T	ENST00000278882.3	+	6	702	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGGAGAAGAAGAAATGATCAA	0.373000													10	253					0.00010058	0.00010269	1	1	0
SDHAP1	0	broad.mit.edu	37	3	195692349	195692349	+	RNA	SNP	T	T	A	rs139762755	by1000genomes	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:195692349T>A	ENST00000427841.1	-	0	2153					NR_003264.2																						CCTCCAGTGCTCCTCAAAGGG	0.572000													5	54					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40260081	40260081	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:40260081C>A	ENST00000251642.3	-	7	946	c.724G>T	c.(724-726)Gac>Tac	p.D242Y		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	242					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCAGGTGGTCATGGATTTGG	0.557000													8	370					3.86212e-05	3.99907e-05	1	1	0
WHAMMP3	0	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													5	57					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413000													6	713					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr4:146059041A>G	ENST00000454497.2	-	21	2828	c.2691T>C	c.(2689-2691)caT>caC	p.H897H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000													6	464					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66979885	66979885	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:66979885G>A	ENST00000340001.4	-	36	4816	c.4605C>T	c.(4603-4605)atC>atT	p.I1535I	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.I1497I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1535					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAGCCTCAGGATCTCTGCAT	0.463000													47	286					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167056341	167056341	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:167056341A>G	ENST00000375387.4	-	27	5151	c.4811T>C	c.(4810-4812)tTt>tCt	p.F1604S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F1592S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F1603S|SCN9A_ENST00000303354.6_Missense_Mutation_p.F1604S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1603						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGGGGACACAAAATACGTTTC	0.423000													42	371					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368000													10	400					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48066031	48066031	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:48066031C>T	ENST00000403359.3	-	4	626	c.554G>A	c.(553-555)cGc>cAc	p.R185H	FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.R101H|FBXO11_ENST00000378314.3_Missense_Mutation_p.R67H|FBXO11_ENST00000316377.4_Missense_Mutation_p.R101H	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	185	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCACTGAAGCGTTTACATAC	0.363000			"""Mis, F, D"""		DLBCL								33	226					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:16285560T>C	ENST00000302182.3	+	2	731	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557000													6	369					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3188890	3188890	+	Silent	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr18:3188890C>T	ENST00000356443.4	-	4	960	c.627G>A	c.(625-627)acG>acA	p.T209T	MYOM1_ENST00000400569.3_Silent_p.T209T|MYOM1_ENST00000261606.7_Silent_p.T209T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	209	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T209T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCTGGATGCCGTGGACTGCT	0.522000													5	337					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													5	300					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577000													7	574					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112998688	112998688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:112998688C>T	ENST00000495514.1	+	13	2742	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	BOC_ENST00000355385.3_Nonsense_Mutation_p.R680*|BOC_ENST00000273395.4_Nonsense_Mutation_p.R681*			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	680	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTACAAGTTTCGAGTCCGGGC	0.622000													25	431					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3704600	3704600	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:3704600G>A	ENST00000324932.7	-	30	5168	c.4748C>T	c.(4747-4749)gCt>gTt	p.A1583V	NUP98_ENST00000355260.3_Missense_Mutation_p.A1509V|NUP98_ENST00000359171.4_Missense_Mutation_p.A1509V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1600					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTCTCTTTAGCCCAAGATTC	0.512000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								22	348					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65210050	65210050	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:65210050C>T	ENST00000247226.7	+	15	3429	c.3121C>T	c.(3121-3123)Cgc>Tgc	p.R1041C	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R602C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R630C|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R1097C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1097					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGGGTGGGCCGCTGCCGCAG	0.731000													9	101					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103840	168103840	+	Missense_Mutation	SNP	A	A	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:168103840A>C	ENST00000409195.1	+	9	6027	c.5938A>C	c.(5938-5940)Aag>Cag	p.K1980Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1758Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1980Q|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1805					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						TCTTCAGCCAAAGCCAGGTCC	0.468000													15	220					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263229	34263229	+	Missense_Mutation	SNP	G	G	A	rs141411970		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:34263229G>A	ENST00000262622.3	+	4	1294	c.536G>A	c.(535-537)cGc>cAc	p.R179H	CHST8_ENST00000438847.2_Missense_Mutation_p.R179H|CHST8_ENST00000434302.1_Missense_Mutation_p.R179H	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	179					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GTCACGCCCCGCCACGTGTCC	0.697000													7	176					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50857681	50857681	+	Splice_Site	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:50857681C>T	ENST00000395562.2	+	11	1733	c.1265_splice	c.e11+1	p.R422_splice	CHAT_ENST00000351556.3_Splice_Site_p.R386_splice|CHAT_ENST00000455728.2_Splice_Site_p.R386_splice|CHAT_ENST00000337653.2_Splice_Site_p.R504_splice|CHAT_ENST00000339797.1_Splice_Site_p.R386_splice|CHAT_ENST00000395559.2_Splice_Site_p.R386_splice	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	504					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AAAACTTCAACGGTAAGGATA	0.602000													37	262					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75564081	75564081	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:75564081G>A	ENST00000336257.3	-	3	1596	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.L74L	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	68					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CACGAGGACAGCACCAGCACG	0.662000													5	247					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66979974	66979974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:66979974G>A	ENST00000340001.4	-	36	4727	c.4516C>T	c.(4516-4518)Caa>Taa	p.Q1506*	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.Q1468*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1506	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCAGGTGTTGGATGGAACCA	0.448000													29	259					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35753531	35753531	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:35753531G>A	ENST00000602122.1	+	4	1288	c.801G>A	c.(799-801)ccG>ccA	p.P267P	LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Silent_p.P286P|LSR_ENST00000347609.4_Silent_p.P249P|LSR_ENST00000427250.1_Intron|LSR_ENST00000354900.3_Silent_p.P267P|LSR_ENST00000360798.3_Intron			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	286					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGTGCTGCCCGCACACTTGCT	0.622000													6	420					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130649223	130649223	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:130649223C>A	ENST00000229030.4	+	1	2220	c.1736C>A	c.(1735-1737)aCc>aAc	p.T579N	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	579					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CAGTCGCCCACCTGCGTGTGA	0.527000													4	96					0.00909568	0.00922201	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296599	39296599	+	Silent	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:39296599T>C	ENST00000345847.4	-	1	140	c.141A>G	c.(139-141)agA>agG	p.R47R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACTGGGGTCTGCAGCAGC	0.682000													5	277					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													5	324					0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202172323	202172323	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:202172323G>A	ENST00000405148.2	-	11	1241	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000286190.5_Silent_p.F266F|ALS2CR12_ENST00000439709.1_Silent_p.F266F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	266					regulation of GTPase activity		protein binding	p.F266F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACTCCATTTCGAATTTTTTGG	0.383000													26	462					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154018839	154018839	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:154018839T>A	ENST00000496811.1	-	10	1375	c.1295A>T	c.(1294-1296)aAa>aTa	p.K432I	DHX36_ENST00000544526.1_Missense_Mutation_p.K432I|DHX36_ENST00000329463.5_Missense_Mutation_p.K432I|DHX36_ENST00000308361.6_Missense_Mutation_p.K432I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	432						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTTCTTCTTTTTCTTGTCT	0.353000													59	402					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													5	52					3.59834e-05	3.77955e-05	1	1	0
CCDC8	83987	broad.mit.edu	37	19	46914994	46914994	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:46914994G>A	ENST00000307522.3	-	1	1847	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	358						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGGTTATCTGCAG	0.587000													9	703					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710559	28710559	+	Missense_Mutation	SNP	C	C	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr18:28710559C>G	ENST00000257198.5	-	16	2864	c.2603G>C	c.(2602-2604)cGg>cCg	p.R868P	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	868					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTCTTCCTGCCGATCGCTGCA	0.438000													36	495					0	0	1	0	0
ATF4P4	0	broad.mit.edu	37	11	113661000	113661000	+	RNA	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:113661000G>A	ENST00000393544.2	+	0	1048																											AGACACCTTCGAATTAAGCAC	0.572000													20	93					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654596	31654596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr21:31654596G>A	ENST00000340345.4	-	1	680	c.655C>T	c.(655-657)Cga>Tga	p.R219*		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	219	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CTCAGTGGTCGGCAGCTCGTA	0.443000													14	405					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			28	156					0	0	1	0	0
IL17C	27189	broad.mit.edu	37	16	88706390	88706390	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:88706390G>A	ENST00000244241.4	+	3	553	c.504G>A	c.(502-504)tcG>tcA	p.S168S		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	168					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCGACGGCTCGGGGCTCCCCA	0.716000													18	282					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711000													4	95					0	0	1	0	0
AC097374.2	0	broad.mit.edu	37	2	95558407	95558407	+	RNA	SNP	A	A	G	rs5006801		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:95558407A>G	ENST00000568768.1	-	0	476																											CTCAAAACAGAATGCATCTGG	0.463000													3	53					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16086019	16086019	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:16086019T>A	ENST00000281043.3	+	3	1492	c.1195T>A	c.(1195-1197)Tcc>Acc	p.S399T		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	399	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CGACCTTCGGTCCAGCTTTCT	0.562000			A		neuroblastoma								50	441					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2162878	2162878	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:2162878G>A	ENST00000262304.4	-	13	3280	c.3072C>T	c.(3070-3072)gtC>gtT	p.V1024V	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.V1024V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1024	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCACTGTGGAGACCTGCAGAC	0.642000													12	156					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38320039	38320039	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:38320039C>T	ENST00000264645.7	+	7	1317	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	364					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GATCCATCTCCAGAAGCAGAT	0.587000													33	731					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118982297	118982297	+	Missense_Mutation	SNP	C	C	A	rs140133210		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:118982297C>A	ENST00000336702.3	+	7	1336	c.977C>A	c.(976-978)gCg>gAg	p.A326E	C2CD2L_ENST00000528586.1_Missense_Mutation_p.A74E	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	326						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ACCAAGCCCGCGAGGGCTGGA	0.562000													4	152					1	1	1	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659338	43659338	+	Silent	SNP	C	C	T	rs78146682	by1000genomes	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:43659338C>T	ENST00000374466.3	+	5	1340	c.1005C>T	c.(1003-1005)acC>acT	p.T335T		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	335					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.T335T(3)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACAATTACACCTTGGTCTCAT	0.403000													4	188					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233480	45233480	+	Silent	SNP	C	C	T	rs146943650	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:45233480C>T	ENST00000303077.6	-	2	1024	c.705G>A	c.(703-705)ccG>ccA	p.P235P		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	235						nucleus	sequence-specific DNA binding transcription factor activity	p.P235P(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGGGGGCGGCGGGCTGAGGA	0.706000													16	287					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													4	71					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	95034762	95034762	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr13:95034762C>T	ENST00000377047.4	+	7	1862	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	416						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ACAGCGGGCACGTCCAACGAG	0.537000													34	307					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000													5	368					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													6	440					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41029282	41029282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:41029282C>T	ENST00000324545.7	+	19	3304	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R891*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	891					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTTGTAGTTCGATTTCCAAA	0.408000													39	547					0	0	1	0	0
SRSF1	6426	broad.mit.edu	37	17	56083794	56083794	+	Missense_Mutation	SNP	G	G	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:56083794G>C	ENST00000582730.2	-	2	412	c.289C>G	c.(289-291)Cga>Gga	p.R97G	SRSF1_ENST00000258962.4_Missense_Mutation_p.R97G|SRSF1_ENST00000584773.1_Missense_Mutation_p.R97G|SRSF1_ENST00000585096.1_Intron	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	97	Gly-rich (hinge region).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCGCCGCCTCGGCCTGTTCCA	0.652000													16	110					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39633889	39633889	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:39633889G>A	ENST00000246639.2	-	6	1143	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	KRT35_ENST00000393989.1_Silent_p.A367A			Q92764	KRT35_HUMAN	keratin 35	367	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.A367A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCGGATCTCGGCCAGCTGGG	0.647000													5	290					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52829637	52829637	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:52829637G>A	ENST00000449956.2	+	2	118	c.112G>A	c.(112-114)Ggg>Agg	p.G38R	ITIH3_ENST00000416872.2_Missense_Mutation_p.G38R	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	38	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTCCCGGAAGGGGTAAGAAC	0.567000													12	56					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146651096	146651096	+	RNA	SNP	G	G	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:146651096G>C	ENST00000607149.1	+	0	350																											GAAATATGAAGGTGGCCATGA	0.403000													33	162					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29994551	29994551	+	Silent	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:29994551A>G	ENST00000308893.4	+	12	2201	c.1158A>G	c.(1156-1158)gaA>gaG	p.E386E	TAOK2_ENST00000416441.2_Silent_p.E213E|TAOK2_ENST00000279394.3_Silent_p.E386E|TAOK2_ENST00000543033.1_Silent_p.E386E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	386	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						aggaggaggaagaggaggagg	0.612000													4	123					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228596786	228596786	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:228596786C>T	ENST00000456946.2	-	6	1345	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GAACCCCCCCCATTGGTGGCT	0.577000													7	161					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141533746	141533746	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:141533746G>A	ENST00000389484.3	-	33	6392	c.5421C>T	c.(5419-5421)gaC>gaT	p.D1807D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1807					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTTTCTTCCGTCTCTTTTGC	0.383000										TSP Lung(27;0.18)			30	203					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													6	533					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			22	154					2.27525e-19	2.44255e-19	1	1	0
MATR3	9782	broad.mit.edu	37	5	138643724	138643724	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:138643724G>A	ENST00000394800.2	+	6	1169	c.620G>A	c.(619-621)cGt>cAt	p.R207H	MATR3_ENST00000504203.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.R207H|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.R207H|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.R207H|MATR3_ENST00000394805.3_Missense_Mutation_p.R207H|MATR3_ENST00000361059.2_Missense_Mutation_p.R207H			P43243	MATR3_HUMAN	matrin 3	207						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGGAAGTCGTTCTCAAGAA	0.403000													5	249					0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64388822	64388822	+	Silent	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:64388822A>G	ENST00000476120.1	+	4	1187	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Silent_p.K307K	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K372K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTGGAGAGAAACCCTACAAAT	0.383000													5	412					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105150491	105150491	+	Missense_Mutation	SNP	C	C	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:105150491C>G	ENST00000428173.2	+	11	1233	c.930C>G	c.(928-930)caC>caG	p.H310Q	NRK_ENST00000243300.9_Missense_Mutation_p.H310Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	310	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGCTTCAACACCCATTTGTTC	0.343000										HNSCC(51;0.14)			6	82					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													5	365					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr9:33464075C>T	ENST00000379471.2	-	22	2951	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R903H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	955					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.R955H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567000													6	540					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81650502	81650502	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:81650502A>G	ENST00000558726.1	-	7	866	c.731T>C	c.(730-732)aTt>aCt	p.I244T	TMC3_ENST00000359440.5_Missense_Mutation_p.I244T|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	244						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTTTAAAAGAATGATGAAGCT	0.408000													5	127					0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2929953	2929953	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:2929953G>T	ENST00000228799.2	+	6	749	c.610G>T	c.(610-612)Ggt>Tgt	p.G204C	ITFG2_ENST00000419778.2_Missense_Mutation_p.G27C|ITFG2_ENST00000542548.1_Missense_Mutation_p.G92C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	204										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTCTCAGCCAGGTTGTGCGTA	0.562000													14	238					1.3612e-06	1.44011e-06	1	1	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													8	164					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30374829	30374829	+	Silent	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:30374829A>G	ENST00000327564.7	+	9	2434	c.2373A>G	c.(2371-2373)ttA>ttG	p.L791L	LRRC37B_ENST00000543378.2_Silent_p.L682L|LRRC37B_ENST00000584368.1_Silent_p.L725L|LRRC37B_ENST00000394713.3_Silent_p.L713L|LRRC37B_ENST00000341671.7_Silent_p.L764L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	764						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGAAGATGTTACAAGCCCGGA	0.488000													64	585					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14006193	14006193	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:14006193G>A	ENST00000454313.1	-	3	256	c.198C>T	c.(196-198)gcC>gcT	p.A66A	C19orf57_ENST00000346736.2_Silent_p.A66A|C19orf57_ENST00000591586.1_Silent_p.A66A|C19orf57_ENST00000586783.1_Silent_p.A66A			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	66					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACCTGGAGACGGCCTTTCCTG	0.562000													7	376					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													5	401					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65925454	65925454	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:65925454G>A	ENST00000321892.4	+	19	6440	c.6379G>A	c.(6379-6381)Gtt>Att	p.V2127I	BPTF_ENST00000306378.6_Missense_Mutation_p.V2001I|BPTF_ENST00000335221.5_Missense_Mutation_p.V2127I|BPTF_ENST00000424123.3_Missense_Mutation_p.V1988I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2127					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTAAGGCGTTGTTCAAGT	0.433000													12	233					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971545	34971545	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr9:34971545G>A	ENST00000242315.3	+	2	332	c.250G>A	c.(250-252)Gat>Aat	p.D84N	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.D84N	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	84							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCGGCTCCGAGATGGGCGCGG	0.632000													26	435					0	0	1	0	0
RRAS	6237	broad.mit.edu	37	19	50140130	50140130	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:50140130G>A	ENST00000246792.3	-	3	397	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	99					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		TGGCCAGCACGCATGTACTGC	0.662000													5	254					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154018849	154018849	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:154018849T>C	ENST00000496811.1	-	10	1365	c.1285A>G	c.(1285-1287)Aga>Gga	p.R429G	DHX36_ENST00000544526.1_Missense_Mutation_p.R429G|DHX36_ENST00000329463.5_Missense_Mutation_p.R429G|DHX36_ENST00000308361.6_Missense_Mutation_p.R429G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	429						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTCTTGTCTATTTACATGC	0.343000													58	386					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119024778	119024778	+	Missense_Mutation	SNP	G	G	A	rs145297995		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:119024778G>A	ENST00000307417.3	+	3	645	c.281G>A	c.(280-282)cGc>cAc	p.R94H	ABCG4_ENST00000449422.2_Missense_Mutation_p.R94H|ABCG4_ENST00000531739.1_Missense_Mutation_p.R94H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	94	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAATTCTGCCGCCGGGAGCTG	0.527000													5	375					0	0	1	0	0
CYSLTR1	0	broad.mit.edu	37	X	77528527	77528527	+	Silent	SNP	G	G	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:77528527G>T	ENST00000373304.3	-	3	1009	c.717C>A	c.(715-717)acC>acA	p.T239T		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	239					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAAAGGCAGCGGTCACGACCA	0.338000													12	319					1.41608e-15	1.5091e-15	1	1	0
AC008103.5	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													6	35					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													6	684					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104815	74104815	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:74104815G>A	ENST00000370336.4	+	1	345	c.187G>A	c.(187-189)Gct>Act	p.A63T	DDX43_ENST00000539829.1_Missense_Mutation_p.A63T|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	63						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGCCGTGGCCGCTGGTCACGA	0.617000											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	177					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15720986	15720986	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:15720986G>A	ENST00000399451.2	-	22	2751	c.2384C>T	c.(2383-2385)gCc>gTc	p.A795V	ANKRD28_ENST00000383777.1_Missense_Mutation_p.A828V|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	795						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TACTTACACGGCACAATGCAA	0.378000													5	182					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130000	34130000	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:34130000C>A	ENST00000389232.4	+	89	11889	c.11819C>A	c.(11818-11820)tCc>tAc	p.S3940Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3935Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3940	EF-hand.				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)		GGAATTATCTCCAAAAAAGAA	0.398000													17	221					7.07596e-05	7.27528e-05	1	1	0
PYGL	5836	broad.mit.edu	37	14	51387719	51387719	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:51387719G>A	ENST00000216392.7	-	6	1059	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	PYGL_ENST00000532462.1_Missense_Mutation_p.R243C|PYGL_ENST00000544180.2_Missense_Mutation_p.R209C	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	243					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GACCAGAGGCGCATGGTGTTG	0.498000													15	236					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	138					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121243763	121243763	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr8:121243763G>A	ENST00000297848.3	+	19	2525	c.2255G>A	c.(2254-2256)cGg>cAg	p.R752Q	COL14A1_ENST00000247781.3_Missense_Mutation_p.R657Q|COL14A1_ENST00000309791.4_Missense_Mutation_p.R752Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	752	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTAGCCTGCGGGTAAAATGG	0.438000													11	240					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	414	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													15	850	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													8	303	---	---	---	---					
LRRC41	10489	broad.mit.edu	37	1	46752129	46752129	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:46752129delA	ENST00000343304.6	-	4	685	c.400delT	c.(400-402)ccfs	p.S134fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	134										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAACATGGGAAAAAAAGGCC	0.483													7	351	---	---	---	---					
CYP4Z2P	0	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2																						AAAAAAAAAAGTTGTTTTAAGAC	0.409													9	274	---	---	---	---					
RGPD8	727851	broad.mit.edu	37	2	113181886	113181887	+	Splice_Site	INS	-	-	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000330575.5_Splice_Site|RGPD8_ENST00000409750.1_Splice_Site	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													8	463	---	---	---	---					
COL5A2	1290	broad.mit.edu	37	2	189943835	189943836	+	Splice_Site	INS	-	-	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:189943835_189943836insA	ENST00000374866.3	-	15	1235		c.e15-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGCTTCACCCTAAAAAAAAATG	0.381													14	268	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													8	17	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs10656368	by1000genomes	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579													7	9	---	---	---	---					
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)caa>ca	p.QQ439del	QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562													7	269	---	---	---	---					
TRMT10C	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:101284009delA	ENST00000309922.6	+	2	538	c.384delA	c.(382-384)gcfs	p.A128fs		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		CTAACACAGCaaaaaaaaaat	0.343													8	214	---	---	---	---					
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)del	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma								8	218	---	---	---	---					
SMC4	10051	broad.mit.edu	37	3	160143939	160143940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:160143939_160143940insA	ENST00000357388.3	+	17	3007_3008	c.2556_2557insA	c.(2554-2559)gaaaaafs	p.EK852fs	SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	852					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322													9	1176	---	---	---	---					
RBPJ	3516	broad.mit.edu	37	4	26417145	26417146	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr4:26417145_26417146insA	ENST00000342320.4	+	4	377_378	c.201_202insA	c.(199-204)aaaaaafs	p.KK67fs	RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs|RBPJ_ENST00000511401.1_3'UTR			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	81					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGATGGAAGAAAAAAAAAGA	0.371													7	594	---	---	---	---					
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr4:81123250_81123252delCAG	ENST00000339711.4	+	10	1865_1867	c.634_636delCAG	c.(634-636)del	p.Q217del	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	201	---	---	---	---					
LINC00575	0	broad.mit.edu	37	4	83540364	83540366	+	RNA	DEL	AGC	AGC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr4:83540364_83540366delAGC	ENST00000426551.1	-	0	226					NR_024087.1																						gagcgtggcaagcagcagcagca	0.502													2	4	---	---	---	---					
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr4:105412465_105412467delGCC	ENST00000394767.2	-	2	943_945	c.493_495delGGC	c.(493-495)del	p.G165del	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	0	Interaction with DVL1 (By similarity).				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695													8	283	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16694606	16694606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:16694606delC	ENST00000513610.1	-	27	4128	c.3674delG	c.(3673-3675)gcfs	p.G1225fs	MYO10_ENST00000274203.9_Frame_Shift_Del_p.G582fs|MYO10_ENST00000515803.1_Frame_Shift_Del_p.G564fs|MYO10_ENST00000427430.2_Frame_Shift_Del_p.G582fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.G564fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGTGGAGGAGCCCCCCCCTTT	0.562													7	515	---	---	---	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)ttt>t	p.CF23del		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													7	221	---	---	---	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													8	785	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327002	16327002	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:16327002delG	ENST00000244769.4	-	8	2476	c.1540delC	c.(1540-1542)agfs	p.Q514fs	ATXN1_ENST00000436367.1_Frame_Shift_Del_p.Q514fs	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	514	Self-association.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCAGCAAACTGGGGGGATGAC	0.657													7	648	---	---	---	---					
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)del	p.H966del	SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645													10	635	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													7	59	---	---	---	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													9	379	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:39379288_39379290delCAG	ENST00000518318.2	+	5	601_603	c.559_561delCAG	c.(559-561)del	p.Q196del	POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													12	84	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													13	44	---	---	---	---					
GOT1L1	137362	broad.mit.edu	37	8	37791833	37791834	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr8:37791833_37791834insT	ENST00000307599.4	-	9	1342_1343	c.1243_1244insA	c.(1243-1245)actfs	p.T415fs		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	415					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCAATCAGTGTTTTTTTTTCC	0.371													12	386	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)ttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													11	194	---	---	---	---					
MYC	4609	broad.mit.edu	37	8	128753053	128753053	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr8:128753053delC	ENST00000377970.2	+	3	1724	c.1214delC	c.(1213-1215)gcfs	p.A405fs	MYC_ENST00000524013.1_Frame_Shift_Del_p.A404fs	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	390	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K392fs*2(1)|p.K407fs*2(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AATGAAAAGGCCCCCAAGGTA	0.498		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""								7	1792	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													7	259	---	---	---	---					
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr9:139734633_139734635delAGA	ENST00000371675.3	+	14	2498_2500	c.1613_1615delAGA	c.(1612-1617)gag>g	p.EK538del	RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del					RAB, member RAS oncogene family-like 6																		CCCTCTaaggagaagaagaagaa	0.571													8	319	---	---	---	---					
HNRNPF	3185	broad.mit.edu	37	10	43882173	43882174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:43882173_43882174insC	ENST00000443950.2	-	3	1645_1646	c.1159_1160insG	c.(1159-1161)cacfs	p.H387fs	HNRNPF_ENST00000356053.3_Frame_Shift_Ins_p.H387fs|HNRNPF_ENST00000337970.3_Frame_Shift_Ins_p.H387fs|HNRNPF_ENST00000544000.1_Frame_Shift_Ins_p.H387fs|HNRNPF_ENST00000357065.4_Frame_Shift_Ins_p.H387fs	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	387					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTGTAAGTGGCCTGGGCAGCA	0.545													7	498	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													10	443	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													8	590	---	---	---	---					
KRTAP5-1	387264	broad.mit.edu	37	11	1605880	1605882	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:1605880_1605882delGCC	ENST00000382171.2	-	1	631_633	c.598_600delGGC	c.(598-600)del	p.G200del	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	200	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCCCACAGCCGGAGCCACAA	0.665													8	279	---	---	---	---					
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)del	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	487	---	---	---	---					
TBC1D10C	374403	broad.mit.edu	37	11	67177151	67177152	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:67177151_67177152insC	ENST00000312390.5	+	10	1296_1297	c.1267_1268insC	c.(1267-1269)ccgfs	p.P423fs	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.P423fs	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	423	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGACTCGGGCCCGGGGCCCC	0.693													7	93	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agt>ag	p.SD780del	DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								13	301	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aag>aa	p.NK168del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													11	1092	---	---	---	---					
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tagfs	p.*174fs	TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000539652.1_Intron	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351													10	175	---	---	---	---					
MLXIP	22877	broad.mit.edu	37	12	122623075	122623075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:122623075delC	ENST00000319080.6	+	14	2493	c.2361delC	c.(2359-2361)atfs	p.I787fs	MLXIP_ENST00000538698.1_Frame_Shift_Del_p.I394fs			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	787	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGGAGGAGATCGAGGAGCTCA	0.632													17	103	---	---	---	---					
BRF1	2972	broad.mit.edu	37	14	105692436	105692437	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:105692436_105692437insG	ENST00000546474.1	-	10	15976_15977	c.1017_1018insC	c.(1015-1020)gcagggfs	p.G340fs	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000446501.2_Frame_Shift_Ins_p.G102fs|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Frame_Shift_Ins_p.G136fs|BRF1_ENST00000440513.3_Frame_Shift_Ins_p.G225fs|BRF1_ENST00000327359.3_Frame_Shift_Ins_p.G225fs|BRF1_ENST00000379937.2_Frame_Shift_Ins_p.G313fs	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	340				AK -> R (in Ref. 1; AAC50170).	positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		AGGCCCCCCTTGGCCTTTGGCC	0.470													7	411	---	---	---	---					
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)cta>ct	p.LL16del	EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ATCCCCCGATAGCAGCAGCAGCA	0.665													8	668	---	---	---	---					
UBE2Q2P1	0	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													10	29	---	---	---	---					
RAB40C	57799	broad.mit.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:677579_677580insC	ENST00000535977.1	+	7	1025_1026	c.803_804insC	c.(802-804)accfs	p.T268fs	RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678													8	317	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													12	132	---	---	---	---					
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:33749493delA	ENST00000394562.1	-	4	1078	c.555delT	c.(553-555)ttfs	p.F185fs	SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs			Q8IYM2	SLN12_HUMAN	schlafen family member 12	185							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTTCTATCAAAAAAAACCC	0.368													7	545	---	---	---	---					
LRRC37A2	474170	broad.mit.edu	37	17	44627779	44627779	+	Splice_Site	DEL	A	A	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:44627779delA	ENST00000576629.1	+	11	5199		c.e11-1		ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Splice_Site|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2							integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TTTTTTTTTTAGCTCAAAAAA	0.328													7	877	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65940454	65940456	+	In_Frame_Del	DEL	CAC	CAC	-	rs143937013		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:65940454_65940456delCAC	ENST00000321892.4	+	22	7105_7107	c.7044_7046delCAC	c.(7042-7047)agc>ag	p.ST2348del	BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del|BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del|BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2348	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACAGCCAGCACCACCACCACC	0.542													7	330	---	---	---	---					
TEAD2	8463	broad.mit.edu	37	19	49850472	49850473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:49850472_49850473insG	ENST00000377214.4	-	8	1254_1255	c.892_893insC	c.(892-894)tgcfs	p.C298fs	TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs			Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564													12	889	---	---	---	---					
STK4	6789	broad.mit.edu	37	20	43623799	43623801	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr20:43623799_43623801delAAT	ENST00000372806.3	+	6	689_691	c.594_596delAAT	c.(592-597)gat>ga	p.EI198del	STK4_ENST00000372801.1_In_Frame_Del_p.EI198del|STK4_ENST00000396731.4_In_Frame_Del_p.EI198del|STK4_ENST00000499879.2_In_Frame_Del_p.EI143del	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	198	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGATTCAGGAAATTGGATACAAC	0.448													22	466	---	---	---	---					
TPTEP1	0	broad.mit.edu	37	22	17131536	17131537	+	RNA	INS	-	-	CTG	rs34452519		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563																											TGCCCACTCTTCTGGTCTCATG	0.540													7	22	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcc>g	p.AS587del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	587					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596													8	1059	---	---	---	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386													9	350	---	---	---	---					
