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
LPIN1	23175	broad.mit.edu	37	2	11955246	11955246	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr2:11955246G>A	uc010yjm.2	+	18	2482	c.2429G>A	c.(2428-2430)cGt>cAt	p.R810H	LPIN1_uc010yjn.2_Missense_Mutation_p.R725H|LPIN1_uc002rbt.3_Missense_Mutation_p.R725H|LPIN1_uc010yjo.2_Missense_Mutation_p.R226H	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	725	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGTTCTGCCCGTGCCATCGGG	0.527000														108			6		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219313	155219313	+	Silent	SNP	C	T	T	rs142512414		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:155219313C>T	uc003inw.2	-	17	4788	c.4788G>A	c.(4786-4788)tcG>tcA	p.S1596S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1596	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E1595fs*11(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTTTGTAGGCGACTCGGGGG	0.423000														166			77		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18162415	18162415	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr20:18162415T>C	uc021wbb.1	+	6	2170	c.1733T>C	c.(1732-1734)gTa>gCa	p.V578A	CSRP2BP_uc002wqk.3_Missense_Mutation_p.V450A|CSRP2BP_uc010zru.2_Missense_Mutation_p.V449A	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	578					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TATCGCTTGGTAGGATCAGAA	0.418000														234			10		0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652171	36652171	+	Nonsense_Mutation	SNP	C	A	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:36652171C>A	uc021yzb.1	+	2	395	c.293C>A	c.(292-294)tCa>tAa	p.S98*	CDKN1A_uc021yzc.1_Nonsense_Mutation_p.S98*|CDKN1A_uc011dtq.2_Nonsense_Mutation_p.S132*|CDKN1A_uc003omm.4_Nonsense_Mutation_p.S98*|CDKN1A_uc003omn.3_Nonsense_Mutation_p.S98*	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	98					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CCTGGCACCTCACCTGCTCTG	0.672000														18			7		0.00198382	0.00198382	1	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117043	117043	+	RNA	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chrGL000205.1:117043C>T	uc002kgk.4	+	0		c.421C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GACAACCCATCGTGTGAACTA	0.453000														29			4		0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65048558	65048558	+	Silent	SNP	G	A	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:65048558G>A	uc001odj.3	+	7	1172	c.840G>A	c.(838-840)tcG>tcA	p.S280S	POLA2_uc010rod.1_Silent_p.S72S|POLA2_uc001odk.3_5'UTR	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	280					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AACATTCCTCGGGTGCTCAAA	0.512000														97			42		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156610	94156610	+	Silent	SNP	T	C	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr14:94156610T>C	uc001ybv.1	+	43	6968	c.6885T>C	c.(6883-6885)caT>caC	p.H2295H	UNC79_uc001ybs.1_Silent_p.H2273H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2450						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGCAGACCATCTTATTGTTA	0.488000														135			4		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502738	90502738	+	Silent	SNP	G	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:90502738G>T	uc004app.4	+	3	3371	c.3336G>T	c.(3334-3336)ctG>ctT	p.L1112L		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1112						integral to membrane											AGGAGCAGCTGCCAGGCCGTG	0.637000														64			13		3.45872e-05	3.54519e-05	1	1	0
CASKIN2	57513	broad.mit.edu	37	17	73502411	73502411	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:73502411G>A	uc002joc.3	-	7	1251	c.701C>T	c.(700-702)aCc>aTc	p.T234I	CASKIN2_uc010wsc.2_Missense_Mutation_p.T152I|CASKIN2_uc002jod.3_Missense_Mutation_p.T234I	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	234						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCACCTCGGTCTTGCCATA	0.667000														13			33		0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627576	170627576	+	Silent	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:170627576C>T	uc003qxp.3	+	1	1206	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	FAM120B_uc003qxo.1_Silent_p.P366P|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	366					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGAAGTTCCCGTGTATACAG	0.532000														54			3		0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105504982	105504982	+	Silent	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:105504982C>T	uc010swr.2	+	1	228	c.141C>T	c.(139-141)gaC>gaT	p.D47D	KIAA1033_uc001tld.3_Silent_p.D47D	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	47					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAATTGAGGACGCTCTGGATG	0.303000														27			16		0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27672041	27672041	+	Silent	SNP	A	G	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr7:27672041A>G	uc003szf.3	-	2	489	c.276T>C	c.(274-276)gtT>gtC	p.V92V	HIBADH_uc003szg.3_Silent_p.V43V|HIBADH_uc003szi.3_Silent_p.V43V	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	92					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	CTTTTTCAGCAACATCTGCTG	0.353000														97			4		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671482	151671482	+	Silent	SNP	A	G	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr6:151671482A>G	uc011eep.2	+	3	2196	c.1956A>G	c.(1954-1956)gaA>gaG	p.E652E	AKAP12_uc003qoe.3_Silent_p.E652E|AKAP12_uc003qof.3_Silent_p.E554E|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.E547E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	652					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGCCTCTGAAATGCAAGAAG	0.493000														38			15		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2545	2545	+	RNA	SNP	G	A	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chrGL000237.1:2545G>A	uc011mgu.1	-	0		c.142C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccagccgcgctgccatctc	0.627000														2			2		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222091	42222091	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:42222091C>T	uc002orl.3	+	5	1403	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	CEACAM5_uc002orj.1_Missense_Mutation_p.R427C	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	428	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CACCTATTACCGTCCAGGGGT	0.537000														64			30		0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377830	125377830	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:125377830C>T	uc011lyy.2	+	0	814	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G271D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GACCAAGGGTCGCATTATAAC	0.527000														92			72		0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31234179	31234179	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr15:31234179A>T	uc001zfh.1	-	15	1926	c.1828T>A	c.(1828-1830)Tta>Ata	p.L610I	FAN1_uc001zff.3_3'UTR|FAN1_uc001zfe.3_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.L24I|MTMR10_uc001zfg.1_Missense_Mutation_p.L191I|MTMR10_uc010azx.1_Missense_Mutation_p.L362I|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	Homo sapiens myotubularin related protein 10 (MTMR10), mRNA.	610	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TTTGGTTTTAATATCAATGAA	0.438000														177			120		0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022926	58022926	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:58022926C>T	uc001spg.1	-	6	1148	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	B4GALNT1_uc010sru.2_Missense_Mutation_p.R184Q|B4GALNT1_uc010srv.2_Intron	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	239					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.R239W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGTGGAGAACCGGACTGGGAA	0.532000														61			11		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29925685	29925685	+	Silent	SNP	T	G	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:29925685T>G	uc003cel.3	+	7	1147	c.777T>G	c.(775-777)gcT>gcG	p.A259A	RBMS3_uc010hfq.3_Silent_p.A272A|RBMS3_uc003cek.3_Silent_p.A259A|RBMS3_uc010hfr.3_Silent_p.A259A|RBMS3_uc003cem.3_Silent_p.A258A	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	259						cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ACCCCACAGCTGCCATACAGA	0.353000														122			5		0	0	1	0	0
GCFC1	94104	broad.mit.edu	37	21	34134451	34134451	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:34134451G>T	uc002yqn.3	-	3	1017	c.827C>A	c.(826-828)tCt>tAt	p.S276Y	GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Missense_Mutation_p.S276Y|GCFC1_uc002yqr.2_Missense_Mutation_p.S276Y	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	276						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						TTCTTTCACAGAAAAAACTAT	0.368000														152			70		3.9908e-21	4.42223e-21	1	1	0
PLAA	9373	broad.mit.edu	37	9	26905845	26905845	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:26905845C>T	uc003zqd.3	-	13	2477	c.2052G>A	c.(2050-2052)atG>atA	p.M684I		NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	684	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTGCATGGGACATCAGTGATT	0.433000														232			10		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99449445	99449445	+	Silent	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr2:99449445C>T	uc002szf.1	-	3	549	c.255G>A	c.(253-255)acG>acA	p.T85T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	85										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GGCTGCCCAGCGTGCCCCTCG	0.562000														34			3		0	0	1	0	0
SCAMP1	9522	broad.mit.edu	37	5	77745782	77745782	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:77745782G>T	uc003kfl.3	+	6	815	c.658G>T	c.(658-660)Gta>Tta	p.V220L	SCAMP1_uc010jaa.3_Non-coding_Transcript|SCAMP1_uc011ctc.2_Non-coding_Transcript|SCAMP1_uc011ctd.2_Non-coding_Transcript|SCAMP1_uc003kfm.3_Intron	NM_004866	NP_004857	O15126	SCAM1_HUMAN	Homo sapiens secretory carrier membrane protein 1 (SCAMP1), mRNA.	220					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TAGATTCTTTGTATTCTTCTT	0.343000														17			10		4.3838e-07	4.60861e-07	1	1	0
P2RX3	5024	broad.mit.edu	37	11	57137381	57137381	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:57137381G>A	uc001nju.3	+	11	1289	c.1105G>A	c.(1105-1107)Gcg>Acg	p.A369T		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	369					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.I368M(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCTGAAAATCGCGGCTTTGAC	0.547000														117			4		0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20363690	20363690	+	Missense_Mutation	SNP	C	T	T	rs144269928	by1000genomes	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:20363690C>T	uc002gxa.1	-	1	171	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	LGALS9B_uc002gwz.1_Missense_Mutation_p.A36T|LGALS9B_uc010vzh.1_Intron	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	36	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTGAGAACGGCCCCATTGACA	0.562000														428			6		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624265	32624265	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:32624265C>T	uc002yow.1	-	5	1676	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	TIAM1_uc011adk.1_Missense_Mutation_p.E402K|TIAM1_uc011adl.1_Missense_Mutation_p.E402K|TIAM1_uc002yox.1_Missense_Mutation_p.E10K	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	402					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCGGCCTCCTCCAGGCTCTCG	0.697000														37			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221090	140221090	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:140221090C>T	uc003lhs.2	+	0	184	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R62C	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	75	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.V61V(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGCCGCGCCTGTTCCG	0.637000														17			9		0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2952919	2952919	+	Silent	SNP	T	C	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:2952919T>C	uc003ggj.1	-	6	996	c.924A>G	c.(922-924)aaA>aaG	p.K308K	NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Silent_p.K54K|NOP14_uc003ggl.3_Silent_p.K308K|NOP14_uc010icq.1_Non-coding_Transcript	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	308					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TATGTTTTGGTTTCTTAACAT	0.403000														151			4		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262905	127262905	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:127262905G>T	uc004boo.1	-	3	521	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	NR5A1_uc022bnh.1_Missense_Mutation_p.Q112K	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	112					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GCCCGAATCTGTGCCTTCTTC	0.677000														57			11		1.67942e-08	1.812e-08	1	1	0
PMEL	6490	broad.mit.edu	37	12	56348043	56348043	+	Silent	SNP	A	G	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:56348043A>G	uc001sir.3	-	10	2604	c.1941T>C	c.(1939-1941)tgT>tgC	p.C647C	PMEL_uc001siq.3_Silent_p.C654C|PMEL_uc010spx.2_Silent_p.C561C|PMEL_uc001sip.3_Silent_p.C647C	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	647					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCAATGGGACAAGAGCAGA	0.512000														86			4		0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62127325	62127325	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr20:62127325C>T	uc002yfe.1	-	2	374	c.208G>A	c.(208-210)Ggc>Agc	p.G70S		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	70						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.R69R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			ATGGTGATGCCGCGCTCACGC	0.597000											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		107			5		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904125	21904125	+	RNA	SNP	G	A	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:21904125G>A	uc002gza.2	+	0		c.64G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ggagtcgcaaggggccgagca	0.697000														18			3		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152273	71152273	+	Splice_Site	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:71152273C>T	uc001oqk.3	-	6	876	c.626_splice	c.e6+1	p.C209_splice	DHCR7_uc001oql.3_Splice_Site_p.C209_splice	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	209					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AAGAACATACCAGTCTCTGGC	0.572000									Smith-Lemli-Opitz syndrome					80			3		0	0	1	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58199559	58199559	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr16:58199559A>G	uc002enc.3	-	9	1023	c.881T>C	c.(880-882)gTc>gCc	p.V294A		NM_001896	NP_001887	P19784	CSK22_HUMAN	Homo sapiens casein kinase 2, alpha prime polypeptide (CSNK2A2), mRNA.	294	Protein kinase.				Wnt receptor signaling pathway|axon guidance	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						CTCAGGGCTGACAAGGTGTCT	0.453000														155			4		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888186	97888186	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr3:97888186C>G	uc011bgu.2	+	0	643	c.643C>G	c.(643-645)Ctt>Gtt	p.L215V		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L215R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGTGACTATTCTTATATCTTA	0.343000														341			82		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4016581	4016581	+	Missense_Mutation	SNP	T	A	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr16:4016581T>A	uc002cvx.3	-	10	3796	c.3257A>T	c.(3256-3258)aAc>aTc	p.N1086I		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1086	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATGAGCTCGTTGAGGACCCG	0.582000														99			4		0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33113410	33113410	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:33113410T>C	uc002ntn.1	-	17	1901	c.1745A>G	c.(1744-1746)gAg>gGg	p.E582G		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	582					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAGCAATGTCTCTATGACGCC	0.527000														211			6		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577594	7577594	+	Nonsense_Mutation	SNP	A	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr17:7577594A>T	uc002gim.2	-	6	881	c.687T>A	c.(685-687)tgT>tgA	p.C229*	TP53_uc002gig.1_Nonsense_Mutation_p.C229*|TP53_uc002gih.3_Nonsense_Mutation_p.C229*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.C97*|TP53_uc010cnf.1_Nonsense_Mutation_p.C97*|TP53_uc002gii.1_Nonsense_Mutation_p.C97*|TP53_uc010cni.1_Nonsense_Mutation_p.C229*|TP53_uc010cnh.1_Nonsense_Mutation_p.C229*|TP53_uc002gij.2_Nonsense_Mutation_p.C229*|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Nonsense_Mutation_p.C136*|TP53_uc002gio.2_Nonsense_Mutation_p.C97*|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	229	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C229fs*10(22)|p.0?(8)|p.C229*(6)|p.D228N(6)|p.D228E(5)|p.?(5)|p.D228G(4)|p.C229_H233delCTTIH(4)|p.D228D(3)|p.C229fs*1(3)|p.D228V(2)|p.D228Y(2)|p.D228A(2)|p.C229_T230insX(2)|p.D228fs*12(2)|p.C229_I232del(2)|p.S227_I232delSDCTTI(2)|p.C229S(2)|p.C229R(2)|p.C229Y(2)|p.C229C(2)|p.D228fs*1(1)|p.C136fs*10(1)|p.C229del(1)|p.D228H(1)|p.T230fs*9(1)|p.D228fs*11(1)|p.D228fs*19(1)|p.G226_D228delGSD(1)|p.C229fs*18(1)|p.C229G(1)|p.C229F(1)|p.V225fs*23(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)		GGATGGTGGTACAGTCAGAGC	0.527000		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)				66			14		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53222786	53222786	+	Silent	SNP	A	G	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chrX:53222786A>G	uc004drz.3	-	24	4683	c.4150T>C	c.(4150-4152)Ttg>Ctg	p.L1384L	KDM5C_uc022bxe.1_Silent_p.L1314L|KDM5C_uc004dsa.3_Silent_p.L1383L|AY927613_uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1384					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGGCCAGTCAACTGTGGCAAC	0.592000			"""N, F, S"""		clear cell renal carcinoma									111			4		0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100126382	100126382	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:100126382C>T	uc011lut.2	+	42	5507	c.4501C>T	c.(4501-4503)Ctt>Ttt	p.L1501F	C9orf174_uc004axe.2_Missense_Mutation_p.L1307F|C9orf174_uc011lus.2_Intron|C9orf174_uc004axg.2_Missense_Mutation_p.L1362F|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1307						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						GTACCGGGTGCTTGGGGACAA	0.557000														33			19		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17121508	17121508	+	Silent	SNP	A	G	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:17121508A>G	uc001mmq.4	-	24	4082	c.4017T>C	c.(4015-4017)ccT>ccC	p.P1339P	PIK3C2A_uc009ygu.1_5'UTR|PIK3C2A_uc010rcw.2_Silent_p.P959P|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1339	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTAACCCTGAAGGAATCATCT	0.358000														112			4		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171484936	171484936	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr1:171484936delA	uc010pmg.2	+	4	724	c.458delA	c.(457-459)gaafs	p.E153fs	PRRC2C_uc001ghq.1_Frame_Shift_Del_p.E150fs|PRRC2C_uc001ghr.1_Frame_Shift_Del_p.E155fs	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	153							protein C-terminus binding										GGGGATCAGGAAAAAAAAGAA	0.358													---	121	---	---	8	---					
GGT8P	645367	broad.mit.edu	37	2	91968960	91968961	+	RNA	INS	-	A	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr2:91968960_91968961insA	uc010fho.1	+	1		c.1291_1292insA								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		GGGCAGGTGTGGGGGTTGGTCT	0.644													---	110	---	---	20	---					
UGT2B28	54490	broad.mit.edu	37	4	70146674	70146674	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr4:70146674delT	uc003hej.3	+	0	458	c.456delT	c.(454-456)gctfs	p.A152fs	UGT2B28_uc010ihr.3_Frame_Shift_Del_p.A152fs	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	152					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTGCAGATGCTTTTTTTCCTT	0.378													---	659	---	---	11	---					
BDP1	55814	broad.mit.edu	37	5	70766233	70766233	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:70766233delT	uc003kbp.1	+	6	1194	c.931delT	c.(931-933)tttfs	p.F311fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.F311fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.F311fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	311	Myb-like.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AACAGATATGTTTTTTTTAGC	0.294													---	495	---	---	8	---					
TTC37	9652	broad.mit.edu	37	5	94830430	94830430	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:94830430delT	uc003klb.3	-	35	4055	c.3758delA	c.(3757-3759)aatfs	p.N1253fs		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1253							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TAGTGCAGTATTTTTTTCATC	0.343													---	226	---	---	7	---					
FAM13B	51306	broad.mit.edu	37	5	137278834	137278834	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr5:137278834delA	uc003lbz.2	-	19	2880	c.2346delT	c.(2344-2346)tttfs	p.F782fs	FAM13B_uc003lcb.2_Frame_Shift_Del_p.F658fs|FAM13B_uc003lca.2_Frame_Shift_Del_p.F754fs	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	782					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TGATTTCTTCAAAAAAATGTG	0.353													---	119	---	---	7	---					
SPATC1	375686	broad.mit.edu	37	8	145095684	145095685	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr8:145095684_145095685insC	uc011lkw.2	+	2	1084_1085	c.982_983insC	c.(982-984)accfs	p.T328fs	SPATC1_uc011lkx.2_Frame_Shift_Ins_p.T328fs	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	328										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ctcccccaccacctcccccacg	0.668													---	111	---	---	9	---					
CNTNAP3	79937	broad.mit.edu	37	9	39178299	39178299	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:39178299delT	uc004abi.3	-	4	836	c.597delA	c.(595-597)aaafs	p.K199fs	CNTNAP3_uc004abj.3_Frame_Shift_Del_p.K199fs|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Frame_Shift_Del_p.K199fs|CNTNAP3_uc011lqs.1_Frame_Shift_Del_p.K199fs	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	199	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTTTAAAGGTTTTTTATCAA	0.313													---	730	---	---	7	---					
ZNF462	58499	broad.mit.edu	37	9	109690574	109690575	+	Frame_Shift_Ins	INS	-	C	C	rs76760064		TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:109690574_109690575insC	uc004bcz.3	+	2	4670_4671	c.4381_4382insC	c.(4381-4383)gccfs	p.A1461fs	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Frame_Shift_Ins_p.A1309fs|ZNF462_uc004bda.3_Frame_Shift_Ins_p.A1309fs	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1461					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCTAGCTTCAGCCAACCCCGCC	0.520													---	123	---	---	10	---					
TNC	3371	broad.mit.edu	37	9	117838693	117838694	+	Frame_Shift_Ins	INS	-	T	T			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr9:117838693_117838694insT	uc004bjj.4	-	7	3247_3248	c.2835_2836insA	c.(2833-2838)caagccfs	p.Q945fs	TNC_uc010mvf.3_Frame_Shift_Ins_p.Q945fs|TNC_uc022bmj.1_Frame_Shift_Ins_p.Q945fs	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	945	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTGGTTGTGGCTTGTTGGCTCT	0.535													---	281	---	---	7	---					
MUC5B	727897	broad.mit.edu	37	11	1264086	1264087	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:1264086_1264087insC	uc001lta.3	+	30	6035_6036	c.5976_5977insC	c.(5974-5979)tggaccfs	p.W1992fs		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1992	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCACCTGGACCCGCCTATC	0.634													---	276	---	---	7	---					
OR5M8	219484	broad.mit.edu	37	11	56258238	56258239	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr11:56258238_56258239insC	uc001nix.1	-	0	608_609	c.608_609insG	c.(607-609)ggcfs	p.G203fs	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AAAGGTTCCAGCCAGCCACAAT	0.411													---	253	---	---	7	---					
TCTN2	79867	broad.mit.edu	37	12	124180975	124180976	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr12:124180975_124180976insA	uc001ufp.3	+	11	1454_1455	c.1326_1327insA	c.(1324-1329)ggcaagfs	p.G442fs	TCTN2_uc009zya.3_Frame_Shift_Ins_p.G441fs	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	442					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACCAACTTGGCAAGCCTGTCCG	0.431													---	295	---	---	9	---					
IQGAP1	8826	broad.mit.edu	37	15	91030265	91030277	+	Frame_Shift_Del	DEL	GTTCGACGTGCCT	-	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr15:91030265_91030277delGTTCGACGTGCCT	uc002bpl.1	+	31	4205_4217	c.4104_4116delGTTCGACGTGCCT	c.(4102-4116)aagttcgacgtgcctfs	p.K1368fs	IQGAP1_uc010uqg.1_5'Flank	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1368	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding	p.D1370D(2)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGACCAACAAGTTCGACGTGCCTGGAGATGAGA	0.451													---	108	---	---	42	---					
ZNF225	7768	broad.mit.edu	37	19	44635141	44635142	+	Frame_Shift_Ins	INS	-	CAAA	CAAA			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr19:44635141_44635142insCAAA	uc002oyj.1	+	4	617_618	c.374_375insCAAA	c.(373-375)tccfs	p.S125fs	ZNF225_uc010ejf.1_Frame_Shift_Ins_p.S125fs	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F124F(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTTCAGTTCTCCAAACAAGATG	0.421													---	181	---	---	97	---					
FAM182A	284800	broad.mit.edu	37	20	26063982	26063982	+	RNA	DEL	C	-	-			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr20:26063982delC	uc010gdq.3	+	4		c.1540delC								Homo sapiens family with sequence similarity 182, member A (FAM182A), non-coding RNA.											breast(1)|endometrium(2)|kidney(1)	4						TGGGCATCCACCTGAGACTTG	0.547													---	4	---	---	2	---					
KRTAP26-1	388818	broad.mit.edu	37	21	31692295	31692296	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:31692295_31692296insG	uc002ynw.3	-	0	312_313	c.58_59insC	c.(58-60)cgcfs	p.R20fs		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	20						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGAATATGGCGGGAGGTTCTG	0.530													---	181	---	---	8	---					
SIK1	150094	broad.mit.edu	37	21	44837550	44837551	+	Frame_Shift_Ins	INS	-	G	G	rs430552	by1000genomes	TCGA-KL-8329-01A-11D-2310-10	TCGA-KL-8329-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9453974-c7a0-4ace-8a46-2047f3328711	fe78c18d-8b68-4d67-bdae-07e288693c0f	g.chr21:44837550_44837551insG	uc002zdf.2	-	12	1975_1976	c.1848_1849insC	c.(1846-1851)cccgccfs	p.P616fs		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	616					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCCCGGCTGGCGGGGGCCTGGC	0.703													---	9	---	---	4	---					
