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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DAB2	1601	broad.mit.edu	37	5	39376947	39376947	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:39376947T>C	uc003jlx.3	-	11	2473	c.1942A>G	c.(1942-1944)Atc>Gtc	p.I648V	DAB2_uc003jlw.3_Missense_Mutation_p.I627V	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	648					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ACATCCTTGATCTCTTTATCC	0.552000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		135			4		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068475	103068475	+	Missense_Mutation	SNP	T	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:103068475T>A	uc002tbx.3	+	11	2118	c.1634T>A	c.(1633-1635)gTt>gAt	p.V545D	IL18RAP_uc010fiz.3_Missense_Mutation_p.V403D	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	545	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTAAAATCAGTTCCTCCCAAT	0.453000														157			18		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67679167	67679167	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr16:67679167C>G	uc002etn.3	+	0	138	c.18C>G	c.(16-18)gaC>gaG	p.D6E	RLTPR_uc010cel.1_Missense_Mutation_p.D6E|RLTPR_uc010vjr.2_Missense_Mutation_p.D6E	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	6										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGACCCCCGACGGCATCTCCT	0.701000														44			4		0	0	1	0	0
DQ141194	0	broad.mit.edu	37	6	41470555	41470555	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:41470555G>A	uc003oqk.1	+	1	183	c.68G>A	c.(67-69)tGg>tAg	p.W23*						Homo sapiens mRNA sequence.																		CATTGTCTCTGGACACTGCTG	0.552000														207			7		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763344	77763344	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:77763344A>G	uc003yau.2	+	9	4574	c.4187A>G	c.(4186-4188)aAg>aGg	p.K1396R	ZFHX4_uc003yaw.1_Missense_Mutation_p.K1351R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1351						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K1396K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATGTCTACAAGTATCGCTGT	0.428000										HNSCC(33;0.089)				171			6		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127255519	127255519	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:127255519C>T	uc010lld.1	-	0	262	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Missense_Mutation_p.R19Q|PAX4_uc003vmh.3_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	27	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AATCTGCTGCCGGGTATCCAG	0.587000														93			31		0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101395694	101395694	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:101395694G>A	uc003dve.4	-	0	295	c.65C>T	c.(64-66)gCg>gTg	p.A22V	ZBTB11_uc003dvf.2_Missense_Mutation_p.A22V|LOC100009676_uc003dvg.3_Missense_Mutation_p.R69H	NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTGCCCGGCGCATACGGCTC	0.657000														54			3		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394497	164394497	+	Missense_Mutation	SNP	T	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr4:164394497T>A	uc003iqp.4	-	0	551	c.390A>T	c.(388-390)ttA>ttT	p.L130F		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	130						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGCAGTACCTAATCCCTGAC	0.537000														87			6		0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1774767	1774767	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:1774767T>C	uc001luc.2	-	8	1338	c.1205A>G	c.(1204-1206)aAc>aGc	p.N402S	MOB2_uc001ltq.2_Intron|IFITM10_uc021qbs.1_5'Flank	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	402					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCCACCCTGTTGTTGTCACG	0.652000														58			8		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128747329	128747329	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:128747329C>A	uc010fmd.2	-	12	1799	c.1667G>T	c.(1666-1668)cGa>cTa	p.R556L	SAP130_uc002tpn.2_Missense_Mutation_p.R317L|SAP130_uc002tpp.2_Missense_Mutation_p.R556L|SAP130_uc002tpq.1_Missense_Mutation_p.R529L	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	556					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTGAATATGTCGAGCATGCGA	0.577000														206			119		8.39805e-80	1.11974e-79	1	1	0
MSH3	4437	broad.mit.edu	37	5	79968625	79968625	+	Silent	SNP	C	G	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:79968625C>G	uc003kgz.3	+	5	1228	c.975C>G	c.(973-975)ctC>ctG	p.L325L		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	325					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAAGTTCACTCTTTTCCCGGA	0.373000								Mismatch excision repair (MMR)						128			5		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36985238	36985238	+	Silent	SNP	A	G	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:36985238A>G	uc003jkl.4	+	9	2455	c.1956A>G	c.(1954-1956)aaA>aaG	p.K652K	NIPBL_uc003jkk.4_Silent_p.K652K|NIPBL_uc003jkm.1_Silent_p.K531K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	652					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGAACTTAAACAGAATGAGA	0.353000														132			4		0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211654675	211654675	+	Missense_Mutation	SNP	G	A	A	rs61740157	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:211654675G>A	uc001him.2	-	1	1247	c.83C>T	c.(82-84)aCg>aTg	p.T28M	RD3_uc001hin.2_Missense_Mutation_p.T28M|RD3_uc009xda.2_Intron	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA.	28					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CATCATAAGCGTCTCCAGCAC	0.627000														69			11		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736527	26736527	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr22:26736527C>A	uc003acb.3	+	9	2337	c.2141C>A	c.(2140-2142)aCc>aAc	p.T714N	SEZ6L_uc003acd.3_Missense_Mutation_p.T714N|SEZ6L_uc011akd.2_Missense_Mutation_p.T714N|SEZ6L_uc003ace.3_Missense_Mutation_p.T714N|SEZ6L_uc011akc.2_Missense_Mutation_p.T714N|SEZ6L_uc003acc.3_Missense_Mutation_p.T714N|SEZ6L_uc003acf.1_Missense_Mutation_p.T487N|SEZ6L_uc010gvc.1_Missense_Mutation_p.T487N	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	714	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCAGACTTAACCATCCAGTTC	0.507000														35			16		4.96729e-08	5.22873e-08	1	1	0
ADGB	79747	broad.mit.edu	37	6	147105874	147105874	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:147105874G>A	uc010khx.3	+	30	4197	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K	ADGB_uc003qlp.3_Missense_Mutation_p.E638K|ADGB_uc003qlq.3_Intron|ADGB_uc003qlr.3_Missense_Mutation_p.E331K	NM_024694	NP_078970	Q8N7X0	CAN7L_HUMAN	Homo sapiens chromosome 6 open reading frame 103 (C6orf103), mRNA.	1386					oxygen transport|proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|heme binding|oxygen binding			breast(1)|endometrium(2)|kidney(2)	5						AAGGGCAGATGAAATCCGAGC	0.413000														69			6		0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237265	30237265	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:30237265G>A	uc022buf.1	+	0	568	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	MAGEB2_uc004dbz.3_Missense_Mutation_p.E190K	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	190	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CACTGATGAGGAATCCCTGCT	0.502000														10			49		0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20402642	20402642	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:20402642A>G	uc002rdo.1	-	4	1117	c.818T>C	c.(817-819)tTc>tCc	p.F273S	SDC1_uc002rdp.1_Missense_Mutation_p.F273S|SDC1_uc010exv.3_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	273					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GTACAGCATGAAACCCACCAG	0.617000														135			4		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168780	110168780	+	Splice_Site	SNP	A	T	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:110168780A>T	uc009wfh.1	+	5	1058	c.516_splice	c.e5-2	p.K172_splice	AMPD2_uc009wfg.1_Splice_Site|AMPD2_uc001dyb.1_Splice_Site_p.K91_splice|AMPD2_uc001dyc.1_Splice_Site_p.K172_splice|AMPD2_uc010ovr.1_Splice_Site_p.K97_splice|AMPD2_uc010ovs.1_Splice_Site_p.K54_splice|AMPD2_uc001dyd.1_Splice_Site_p.K53_splice	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	172					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTGCCTCTAGGCTGGAGCC	0.607000														39			39		0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	281811	281811	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:281811C>T	uc010qvs.2	+	3	2077	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	NLRP6_uc010qvt.2_Missense_Mutation_p.R693W	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	693						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGGGGAAGCGGCTCCAGGC	0.617000														24			14		0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122672370	122672370	+	Silent	SNP	C	T	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr12:122672370C>T	uc009zxm.3	+	3	670	c.645C>T	c.(643-645)taC>taT	p.Y215Y	LRRC43_uc001ubw.4_Silent_p.Y30Y|LRRC43_uc009zxn.3_5'Flank|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	215										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AAAGTCTCTACGTCACCGCTA	0.557000														36			28		0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133368474	133368474	+	Silent	SNP	A	G	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:133368474A>G	uc003eps.3	-	9	1389	c.1257T>C	c.(1255-1257)ccT>ccC	p.P419P		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	419	BRCT 3.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CCACTACATGAGGCCTACAAA	0.393000								Other conserved DNA damage response genes						105			4		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27527838	27527838	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:27527838C>A	uc002rjo.3	+	3	828	c.525C>A	c.(523-525)agC>agA	p.S175R	TRIM54_uc002rjn.3_Missense_Mutation_p.S217R	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	175	Mediates microtubule-binding and homooligomerization (By similarity).				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGCTCAGCGATGGCATCG	0.607000														104			70		4.49761e-31	5.80337e-31	1	1	0
INO80	54617	broad.mit.edu	37	15	41313154	41313154	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr15:41313154G>C	uc001zni.3	-	25	3431	c.3218C>G	c.(3217-3219)gCt>gGt	p.A1073G	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1073	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGACCTCCAGCTGGCTCTGG	0.527000														92			39		0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4280193	4280193	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr19:4280193C>A	uc002lzw.2	+	0	1596	c.133C>A	c.(133-135)Ccc>Acc	p.P45T		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	45										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCGAGGACCCCTATGAGGA	0.687000														101			5		1.23904e-05	1.23904e-05	1	1	0
TIGD5	84948	broad.mit.edu	37	8	144680424	144680424	+	Silent	SNP	G	T	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr8:144680424G>T	uc003yyx.2	+	0	351	c.351G>T	c.(349-351)cgG>cgT	p.R117R	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	117					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGAAGATGCGGCTGGCCAACG	0.711000														21			14		8.04996e-18	9.19995e-18	1	1	0
COL6A5	256076	broad.mit.edu	37	3	130114173	130114173	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:130114173G>T	uc010htj.1	+	7	3927	c.3433G>T	c.(3433-3435)Gtt>Ttt	p.V1145F	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	1145	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CATAGGAGATGTTTATAAGGA	0.373000														110			6		3.07112e-06	3.14986e-06	1	1	0
DROSHA	29102	broad.mit.edu	37	5	31521319	31521319	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:31521319C>A	uc003jhg.2	-	4	1217	c.858G>T	c.(856-858)gaG>gaT	p.E286D	DROSHA_uc003jhh.2_Missense_Mutation_p.E286D|DROSHA_uc003jhi.2_Missense_Mutation_p.E286D|DROSHA_uc010iui.1_Intron	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	286	Arg-rich.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R285I(2)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCCGTTCTCGCTCTCTTAAAG	0.403000														84			45		8.48111e-28	1.06014e-27	1	1	0
RNF111	54778	broad.mit.edu	37	15	59368246	59368246	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr15:59368246G>T	uc002afv.3	+	6	2059	c.1780G>T	c.(1780-1782)Gtt>Ttt	p.V594F	RNF111_uc002afs.3_Missense_Mutation_p.V594F|RNF111_uc002aft.3_Missense_Mutation_p.V594F|RNF111_uc002afu.3_Missense_Mutation_p.V593F|RNF111_uc002afw.3_Missense_Mutation_p.V594F|RNF111_uc002afx.3_Missense_Mutation_p.V120F	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	594					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTGCTGCCCTGTTTCTTCCTC	0.512000														61			26		1.836e-18	2.16e-18	1	1	0
SSPO	23145	broad.mit.edu	37	7	149486388	149486388	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr7:149486388G>T	uc010lpk.3	+	29	4364	c.4364G>T	c.(4363-4365)gGc>gTc	p.G1455V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1455	LDL-receptor class A 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCCCAGGGCTTGCTGGCC	0.677000														72			33		1.61788e-16	1.79764e-16	1	1	0
C17orf53	78995	broad.mit.edu	37	17	42225428	42225428	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:42225428C>A	uc002ifi.2	+	2	494	c.257C>A	c.(256-258)aCg>aAg	p.T86K	C17orf53_uc010czq.2_Missense_Mutation_p.T86K|C17orf53_uc002ifj.2_Missense_Mutation_p.T86K|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	86										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCCTCCAGCACGCCCAGTGCT	0.602000														43			29		3.65163e-15	3.94771e-15	1	1	0
CHST3	9469	broad.mit.edu	37	10	73767938	73767938	+	Silent	SNP	C	T	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr10:73767938C>T	uc001jsn.3	+	2	1589	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	383					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						AGAAGGCCCGCGAGATGTACC	0.701000														11			15		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53084953	53084953	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr12:53084953T>C	uc001saw.3	-	8	1762	c.1733A>G	c.(1732-1734)gAg>gGg	p.E578G	KRT77_uc009zmi.3_Missense_Mutation_p.E336G	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	578	Tail.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGGCCTCTACTCCAAGATCCG	0.637000														61			4		0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39226063	39226063	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr19:39226063A>G	uc002ojd.1	-	13	1942	c.1633T>C	c.(1633-1635)Tac>Cac	p.Y545H	CAPN12_uc010egd.1_5'UTR|CAPN12_uc002ojc.1_Missense_Mutation_p.L18P	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	545	Domain IV.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGGGGCAGGTAGGGGCCCTGC	0.677000														94			3		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77645803	77645803	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:77645803C>T	uc011bgk.2	+	19	3411	c.2768C>T	c.(2767-2769)cCc>cTc	p.P923L	ROBO2_uc021xat.1_Missense_Mutation_p.P935L|ROBO2_uc003dpy.4_Missense_Mutation_p.P919L|ROBO2_uc003dpz.3_Missense_Mutation_p.P923L|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.P46L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	919					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCTGGTGATCCCAGCTATCCA	0.458000														131			83		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6978199	6978199	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr18:6978199C>A	uc002knm.3	-	42	6280	c.6186G>T	c.(6184-6186)atG>atT	p.M2062I	LAMA1_uc010wzj.2_Missense_Mutation_p.M1538I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2062	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACATACTGGCCATGGTGGAGT	0.562000														105			62		1.50372e-20	1.82269e-20	1	1	0
ALOX12B	242	broad.mit.edu	37	17	7980375	7980375	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr17:7980375T>C	uc002gjy.1	-	8	1469	c.1208A>G	c.(1207-1209)cAc>cGc	p.H403R	BC046191_uc010cnq.2_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	403	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGCAATGAGGTGTGTCTCCAG	0.622000										Multiple Myeloma(8;0.094)				72			5		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32382805	32382805	+	Missense_Mutation	SNP	G	C	C	rs146420425		TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:32382805G>C	uc004dda.1	-	35	5292	c.5048C>G	c.(5047-5049)aCt>aGt	p.T1683S	DMD_uc004dcw.2_Missense_Mutation_p.T339S|DMD_uc004dcx.2_Missense_Mutation_p.T342S|DMD_uc004dcz.2_Missense_Mutation_p.T1560S|DMD_uc004dcy.1_Missense_Mutation_p.T1679S|DMD_uc004ddb.1_Missense_Mutation_p.T1675S|DMD_uc010ngo.1_Intron|DMD_uc022buq.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1683	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGGTCAAAAGTTTCCATGTG	0.363000														117			10		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24793320	24793320	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr14:24793320G>C	uc001wow.3	-	15	2413	c.1994C>G	c.(1993-1995)gCc>gGc	p.A665G	ADCY4_uc010toh.2_Missense_Mutation_p.A351G|ADCY4_uc001wox.3_Missense_Mutation_p.A665G|ADCY4_uc001woy.3_Missense_Mutation_p.A665G	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	665					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGTGCCCAAGGCTATTCTCAG	0.612000														95			51		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226273811	226273811	+	Missense_Mutation	SNP	T	A	A			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr2:226273811T>A	uc002voe.2	+	1	390	c.215T>A	c.(214-216)aTa>aAa	p.I72K	NYAP2_uc010fxa.1_Missense_Mutation_p.I67K	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	72																	GAAGAAGCAATAAAGCGGtaa	0.373000														26			17		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43020113	43020113	+	Silent	SNP	A	G	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr6:43020113A>G	uc003otq.3	-	1	746	c.414T>C	c.(412-414)ctT>ctC	p.L138L	CUL7_uc011dvb.2_Silent_p.L190L|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	138					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.L137V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGACAGTGTGAAGTAGAGGAG	0.562000														102			17		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276256	186276257	+	In_Frame_Ins	INS	-	CCA	CCA	rs149342058	byFrequency	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr1:186276256_186276257insCCA	uc001gru.4	+	6	1456_1457	c.1405_1406insCCA	c.(1405-1407)ccc>cCCAcc	p.471_472insT	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Ins_p.430_431insT|PRG4_uc009wyl.3_In_Frame_Ins_p.378_379insT|PRG4_uc009wym.3_In_Frame_Ins_p.337_338insT|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	471	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.K472N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GGAGCCTGCACCCACCACCAAG	0.653													---	53	---	---	7	---					
MUC4	4585	broad.mit.edu	37	3	195512280	195512281	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr3:195512280_195512281insG	uc021xjp.1	-	1	6326_6327	c.6170_6171insC	c.(6169-6171)gtafs	p.V2057fs	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	828					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACCTGTGGATACTGAGGAAAG	0.564													---	307	---	---	9	---					
OCIAD1	54940	broad.mit.edu	37	4	48859372	48859372	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr4:48859372delA	uc010igk.3	+	7	921	c.705delA	c.(703-705)ccafs	p.P235fs	OCIAD1_uc003gyo.3_Frame_Shift_Del_p.P230fs|OCIAD1_uc003gyq.3_Intron|OCIAD1_uc003gyp.3_Intron|OCIAD1_uc003gyr.3_Frame_Shift_Del_p.P230fs|OCIAD1_uc021xoc.1_Intron	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	230						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAAGAGTGCCAAAAAAAGAAG	0.303													---	301	---	---	7	---					
FLT4	2324	broad.mit.edu	37	5	180048849	180048850	+	Frame_Shift_Ins	INS	-	GC	GC			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr5:180048849_180048850insGC	uc003mlz.4	-	12	1791_1792	c.1712_1713insGC	c.(1711-1713)ggcfs	p.G571fs	FLT4_uc003mma.4_Frame_Shift_Ins_p.G571fs|FLT4_uc003mmb.1_Frame_Shift_Ins_p.G104fs|FLT4_uc011dgy.2_Frame_Shift_Ins_p.G571fs	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	571	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.G571S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCACCGGCTGGCCCTCTAGTAG	0.629													---	175	---	---	14	---					
ZNF518A	9849	broad.mit.edu	37	10	97918856	97918856	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr10:97918856delA	uc001klp.3	+	5	3634	c.2777delA	c.(2776-2778)caafs	p.Q926fs	ZNF518A_uc001klo.1_Frame_Shift_Del_p.Q396fs|ZNF518A_uc001klq.3_Frame_Shift_Del_p.Q926fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.Q926fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATTCAGAACAAAAAAAAACT	0.348													---	93	---	---	8	---					
DEAF1	10522	broad.mit.edu	37	11	694933	694934	+	Frame_Shift_Ins	INS	-	AG	AG			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:694933_694934insAG	uc001lqq.1	-	0	807_808	c.114_115insCT	c.(112-117)gaggagfs	p.E38fs	DEAF1_uc021qbn.1_Frame_Shift_Ins_p.E38fs|TMEM80_uc001lqr.3_5'Flank|TMEM80_uc001lqs.3_5'Flank|TMEM80_uc010qwi.1_5'Flank	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	38	Ala-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGCACCGGCTCCTCCGCCTCGC	0.782													---	4	---	---	2	---					
MICALCL	84953	broad.mit.edu	37	11	12315174	12315175	+	Frame_Shift_Ins	INS	-	G	G	rs148792670	by1000genomes	TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:12315174_12315175insG	uc001mkg.1	+	2	487_488	c.196_197insG	c.(196-198)cggfs	p.R66fs		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	66	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.R66W(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCCAAACTTTCGGAGGCGAGCC	0.550													---	98	---	---	7	---					
RCN1	5954	broad.mit.edu	37	11	32118784	32118784	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:32118784delT	uc010reb.2	+	1	615	c.349delT	c.(349-351)tttfs	p.F117fs	RCN1_uc021qfp.1_5'UTR|RCN1_uc001mtk.3_5'UTR	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	117	EF-hand 2.		F -> L (in a colorectal cancer sample; somatic mutation).			endoplasmic reticulum lumen	calcium ion binding	p.I116I(1)|p.F117L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AAGATACATCTTTGATAATGT	0.428													---	58	---	---	42	---					
CHRDL2	25884	broad.mit.edu	37	11	74408313	74408316	+	Frame_Shift_Del	DEL	CTTT	-	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:74408313_74408316delCTTT	uc001ovh.3	-	10	1455_1458	c.1202_1205delAAAG	c.(1201-1206)gaaagtfs	p.E401fs	CHRDL2_uc001ovg.3_Frame_Shift_Del_p.K267fs|CHRDL2_uc001ovi.3_Frame_Shift_Del_p.K383fs	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	0					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TGCTTCCTGACTTTCTTGATCTGA	0.544													---	54	---	---	24	---					
FOLH1B	219595	broad.mit.edu	37	11	89420569	89420569	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr11:89420569delA	uc001pda.3	+	8	1097	c.571delA	c.(571-573)aaafs	p.K191fs		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	191					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGTTGGACTAAAAAAAGTCC	0.343													---	425	---	---	7	---					
BAG5	9529	broad.mit.edu	37	14	104026528	104026528	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chr14:104026528delT	uc021seg.1	-	0	974	c.974delA	c.(973-975)aacfs	p.N325fs	KLC1_uc010tyd.1_5'Flank|BAG5_uc001yni.2_Frame_Shift_Del_p.N325fs|BAG5_uc001ynh.2_Frame_Shift_Del_p.N366fs|BAG5_uc001ynj.2_Frame_Shift_Del_p.N325fs|KLC1_uc010tyc.2_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Homo sapiens BCL2-associated athanogene 5 (BAG5), transcript variant 2, mRNA.	325	BAG 4.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GATGCAGGGGTTTTTTTCAAG	0.443													---	151	---	---	7	---					
DMD	1756	broad.mit.edu	37	X	31198540	31198550	+	Frame_Shift_Del	DEL	GACCAGAAAAA	-	-			TCGA-KL-8343-01A-11D-2310-10	TCGA-KL-8343-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34739bd6-b3be-441d-8cdb-e4233bf14080	25275f7f-a079-4c74-bec8-33b107316d1b	g.chrX:31198540_31198550delGACCAGAAAAA	uc004dda.1	-	68	10267_10277	c.10023_10033delTTTTTCTGGTC	c.(10021-10035)tttttttctggtcgafs	p.F3341fs	DMD_uc004dcq.1_Frame_Shift_Del_p.F612fs|DMD_uc004dcr.1_Frame_Shift_Del_p.F881fs|DMD_uc004dcs.1_Frame_Shift_Del_p.F881fs|DMD_uc004dct.1_Frame_Shift_Del_p.F881fs|DMD_uc004dcu.1_Frame_Shift_Del_p.F881fs|DMD_uc004dcv.1_Frame_Shift_Del_p.F881fs|DMD_uc004dcw.2_Frame_Shift_Del_p.F1997fs|DMD_uc004dcx.2_Frame_Shift_Del_p.F2000fs|DMD_uc004dcz.2_Frame_Shift_Del_p.F3218fs|DMD_uc004dcy.1_Frame_Shift_Del_p.F3337fs|DMD_uc004ddb.1_Frame_Shift_Del_p.F3333fs|DMD_uc004dcp.1_Frame_Shift_Del_p.F273fs|DMD_uc011mkb.1_Frame_Shift_Del_p.F273fs|DMD_uc004dcm.1_Frame_Shift_Del_p.F273fs|DMD_uc004dcn.1_Frame_Shift_Del_p.F273fs|DMD_uc004dco.1_Frame_Shift_Del_p.F273fs|DMD_uc010ngm.3_Frame_Shift_Del_p.F273fs	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3341	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGCAACTCGACCAGAAAAAAAGCAGCTTT	0.412													---	51	---	---	59	---					
