Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PLXNB1	5364	broad.mit.edu	37	3	48455394	48455394	+	Silent	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr3:48455394C>T	ENST00000358536.4	-	22	4565	c.4296G>A	c.(4294-4296)cgG>cgA	p.R1432R	PLXNB1_ENST00000296440.6_Silent_p.R1432R|PLXNB1_ENST00000448774.2_Silent_p.R43R|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000358459.4_Silent_p.R1249R|PLXNB1_ENST00000456774.1_Silent_p.R1249R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1432					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGGTGGTGCCGCGTCAGCG	0.637000													4	57					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635299	118635299	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr6:118635299C>T	ENST00000360388.4	+	8	1312	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	371					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TAAGCAGTTCCGCAATCCTTC	0.557000													56	105					0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33704599	33704599	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr18:33704599G>A	ENST00000269187.5	-	3	1067	c.854C>T	c.(853-855)aCa>aTa	p.T285I	SLC39A6_ENST00000590986.1_Missense_Mutation_p.T285I|SLC39A6_ENST00000440549.2_Missense_Mutation_p.T10I	NM_012319.3	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	285						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GTTGAACTCTGTTGCATTCAG	0.428000													33	33					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166775872	166775872	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:166775872G>C	ENST00000243344.7	-	13	1725	c.1588C>G	c.(1588-1590)Ctg>Gtg	p.L530V		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	530						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GCTAGCAGCAGATGAGCATCA	0.363000													5	68					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246897	56246897	+	Silent	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr18:56246897G>A	ENST00000361673.3	-	4	1324	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	371							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACCCACCCAGGCAATGCTCA	0.517000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	33					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45818761	45818761	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr19:45818761C>A	ENST00000221476.3	-	4	617	c.443G>T	c.(442-444)cGt>cTt	p.R148L		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	148	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCGCTCGCCACGGGAGCAGTG	0.677000													25	30					3.6726e-16	4.21515e-16	1	1	0
CSHL1	1444	broad.mit.edu	37	17	61988207	61988207	+	Missense_Mutation	SNP	C	C	T	rs137902098		TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr17:61988207C>T	ENST00000392824.4	-	2	149	c.88G>A	c.(88-90)Gtt>Att	p.V30I	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Missense_Mutation_p.V30I|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000450719.3_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	30						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GATAAGGGAACGGTTTGGACG	0.582000													13	106					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133241978	133241978	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr12:133241978C>T	ENST00000320574.5	-	21	2421	c.2378G>A	c.(2377-2379)cGc>cAc	p.R793H	POLE_ENST00000535270.1_Missense_Mutation_p.R766H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	793					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTCTTGCAGCGCTTCACCTC	0.572000								DNA polymerases (catalytic subunits)					4	115					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611624	61611624	+	Silent	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr17:61611624G>A	ENST00000583023.1	+	5	1064	c.1053G>A	c.(1051-1053)gtG>gtA	p.V351V	KCNH6_ENST00000581784.1_Silent_p.V351V|KCNH6_ENST00000456941.2_Silent_p.V351V|KCNH6_ENST00000314672.5_Silent_p.V351V|KCNH6_ENST00000580652.1_Silent_p.V351V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	351					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TTGACATGGTGGCCGCCATCC	0.617000													35	52					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74310734	74310734	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr4:74310734G>T	ENST00000395792.2	+	7	838	c.738G>T	c.(736-738)aaG>aaT	p.K246N	AFP_ENST00000226359.2_Missense_Mutation_p.K246N	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	246	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAGTCAGAAGTTTACCAAAG	0.343000									Alpha-Fetoprotein, Hereditary Persistence of				14	22					2.31682e-05	2.38775e-05	1	1	0
PAGR1	79447	broad.mit.edu	37	16	29828297	29828297	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr16:29828297G>A	ENST00000320330.6	+	1	1013	c.451G>A	c.(451-453)Gag>Aag	p.E151K	AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.E151K					PAXIP1 associated glutamate-rich protein 1																		ATCCGATGAGGAGCCGGAGGC	0.632000											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	7					0	0	1	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44021615	44021615	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:44021615G>T	ENST00000260605.8	+	6	440	c.340G>T	c.(340-342)Gtt>Ttt	p.V114F	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.V114F|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.V114F	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	114						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTTGTTCTCGTTCTGGATCT	0.333000													21	17					4.35082e-09	4.72508e-09	1	1	0
IL1R2	7850	broad.mit.edu	37	2	102636257	102636257	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:102636257T>C	ENST00000332549.3	+	5	900	c.671T>C	c.(670-672)aTt>aCt	p.I224T	IL1R2_ENST00000441002.1_Missense_Mutation_p.I224T|IL1R2_ENST00000393414.2_Missense_Mutation_p.I224T	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	224					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ACTAGGAGTATTGAGCTACGC	0.468000													19	22					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45216198	45216198	+	Silent	SNP	C	C	T	rs141721788	by1000genomes	TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr17:45216198C>T	ENST00000066544.3	-	13	1704	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	CDC27_ENST00000531206.1_Silent_p.E543E|CDC27_ENST00000446365.2_Silent_p.E476E|CDC27_ENST00000527547.1_Silent_p.E536E	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAGAGTAGATCTCCATGCCTT	0.343000													3	59					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99661860	99661860	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chrX:99661860C>T	ENST00000373034.4	-	1	3411	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	PCDH19_ENST00000420881.2_Missense_Mutation_p.R579H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R579H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	579	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R579H(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCAGAGTTGCGGGGTATGTA	0.582000													59	3					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806089	1806089	+	Missense_Mutation	SNP	G	G	T	rs121913479		TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr4:1806089G>T	ENST00000340107.4	+	9	1370	c.1114G>T	c.(1114-1116)Ggc>Tgc	p.G372C	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.G370C|FGFR3_ENST00000481110.2_Missense_Mutation_p.G370C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.G370C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	370					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G370C(108)|p.A369_G370>VC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGACGAGGCGGGCAGTGTGTA	0.687000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				119	141					9.05284e-58	1.06318e-57	1	1	0
TANC1	85461	broad.mit.edu	37	2	160006934	160006934	+	Silent	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:160006934C>T	ENST00000263635.6	+	7	786	c.549C>T	c.(547-549)acC>acT	p.T183T	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	183	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAAGCAGCACCGCATCTCCTA	0.527000													4	48					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94259687	94259687	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr5:94259687C>T	ENST00000515393.1	-	7	1251	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000312216.8_Missense_Mutation_p.V197M|MCTP1_ENST00000505208.1_Missense_Mutation_p.V197M|MCTP1_ENST00000505078.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	418					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGAGACTTCACAGAGAAATAA	0.289000													9	14					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67913803	67913803	+	Silent	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagcagtagcagca	0.602000													4	61					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108443498	108443498	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:108443498G>A	ENST00000408999.3	+	1	106	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	RGPD4_ENST00000354986.4_Missense_Mutation_p.R10Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	10					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TACGGGGAGCGGTACGTCGCC	0.687000													6	15					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44969323	44969323	+	Splice_Site	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chrX:44969323G>A	ENST00000377967.4	+	28	4046		c.e28-1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000479423.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTATAAAACAGGTGGAGGTTT	0.348000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								23	1					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5024807	5024807	+	Silent	SNP	C	C	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr3:5024807C>A	ENST00000256495.3	+	5	1272	c.669C>A	c.(667-669)atC>atA	p.I223I		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	223						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						TGCCAGTCATCCAGCGGACTT	0.582000													33	50					1.61788e-16	1.87823e-16	1	1	0
ZDHHC11	79844	broad.mit.edu	37	5	840661	840661	+	Missense_Mutation	SNP	A	A	G	rs146797259	by1000genomes	TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr5:840661A>G	ENST00000283441.8	-	5	1116	c.733T>C	c.(733-735)Ttt>Ctt	p.F245L	ZDHHC11_ENST00000511539.1_Missense_Mutation_p.F32L|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.F245L|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	245						integral to membrane	acyltransferase activity|zinc ion binding	p.F245L(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AAGCCAAGAAAGTCCAGCAGG	0.592000													5	398					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44739986	44739986	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr19:44739986C>T	ENST00000313040.7	+	6	1608	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	ZNF227_ENST00000391961.2_Missense_Mutation_p.A417V|ZNF227_ENST00000589005.1_Missense_Mutation_p.A417V	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AAGTGTGAGGCGTGTGGGAAA	0.468000													46	93					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26901771	26901771	+	Silent	SNP	T	T	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr17:26901771T>C	ENST00000226253.4	-	5	958	c.483A>G	c.(481-483)gcA>gcG	p.A161A	ALDOC_ENST00000395319.3_Silent_p.A161A|ALDOC_ENST00000395321.2_Silent_p.A161A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	161					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GAATGGCAAGTGCAGAGGGTG	0.562000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	23					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623172	100623172	+	Silent	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:100623172C>T	ENST00000409236.2	-	5	907	c.795G>A	c.(793-795)agG>agA	p.R265R	AFF3_ENST00000317233.4_Silent_p.R265R|AFF3_ENST00000409579.1_Silent_p.R290R|AFF3_ENST00000356421.2_Silent_p.R290R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CAGGGACTCCCCTGTATGATG	0.587000													22	37					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27428507	27428507	+	Splice_Site	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr1:27428507C>T	ENST00000263980.3	-	9	2510	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R	SLC9A1_ENST00000545949.1_Splice_Site_p.R306R	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	645					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGGCCCTCACCCGCTGCCTGG	0.662000													56	80					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134493808	134493808	+	Silent	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr6:134493808G>A	ENST00000367858.5	-	9	1536	c.939C>T	c.(937-939)atC>atT	p.I313I	SGK1_ENST00000413996.3_Silent_p.I232I|SGK1_ENST00000528577.1_Silent_p.I246I|SGK1_ENST00000367857.5_Silent_p.I208I|SGK1_ENST00000237305.7_Silent_p.I218I|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.I174I	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	218	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ACCTATAAACGATGTTCAGTG	0.468000													12	23					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159842877	159842877	+	Silent	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr1:159842877G>A	ENST00000426543.2	-	11	1634	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	CCDC19_ENST00000368099.4_Silent_p.L478L|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	478						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCTGGCGCCGGAGCTCATTGG	0.612000													17	96					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25745418	25745418	+	Silent	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr8:25745418G>A	ENST00000520164.1	-	9	1359	c.822C>T	c.(820-822)atC>atT	p.I274I	EBF2_ENST00000408929.3_Silent_p.I126I|EBF2_ENST00000535548.1_Silent_p.I5I	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	274	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGTTGTCCCCGATGATGATGA	0.498000													29	39					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36321957	36321957	+	Missense_Mutation	SNP	C	C	A	rs147417123		TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr19:36321957C>A	ENST00000378910.5	-	27	3478	c.3479G>T	c.(3478-3480)cGa>cTa	p.R1160L	NPHS1_ENST00000353632.6_Missense_Mutation_p.R1120L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1160	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAACTCACCTCGGGAATAAGA	0.607000													8	133					5.18039e-06	5.39402e-06	1	1	0
MGAT4C	25834	broad.mit.edu	37	12	86374022	86374022	+	Missense_Mutation	SNP	G	G	A	rs140499591		TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr12:86374022G>A	ENST00000604798.1	-	8	1686	c.482C>T	c.(481-483)gCg>gTg	p.A161V	MGAT4C_ENST00000549405.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000393205.2_Missense_Mutation_p.A190V			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	161					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATATGGTGCGCAAATTTCTG	0.403000													4	88					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93610974	93610974	+	Splice_Site	SNP	T	T	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr10:93610974T>A	ENST00000371627.4	+	21	3075	c.2696T>A	c.(2695-2697)aTc>aAc	p.I899N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	899	SAM.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTTTGTAAGATCACTTTGGAT	0.363000													32	38					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25483196	25483196	+	RNA	SNP	T	T	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr15:25483196T>C	ENST00000453082.2	+	0	1979				SNORD115-37_ENST00000363768.1_RNA	NR_003343.1																						TCATGCTTAATAGTATTATGC	0.453000													51	54					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr7:100350361T>C	ENST00000542585.1	+	0	2781				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													5	195					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166032688	166032688	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:166032688C>T	ENST00000360093.3	-	3	708	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	SCN3A_ENST00000409101.3_Missense_Mutation_p.V73M|SCN3A_ENST00000283254.7_Missense_Mutation_p.V73M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	73						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGCTCTGACACCATCTCTGGA	0.373000													38	48					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19544030	19544030	+	Silent	SNP	G	G	A	rs148135067		TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr5:19544030G>A	ENST00000507958.1	-	11	2328	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	CDH18_ENST00000506372.1_Silent_p.L446L|CDH18_ENST00000502796.1_Silent_p.L446L|CDH18_ENST00000511273.1_Silent_p.L446L|CDH18_ENST00000382275.1_Silent_p.L446L|CDH18_ENST00000274170.4_Silent_p.L446L			Q13634	CAD18_HUMAN	cadherin 18, type 2	446	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTCTCTGTCGAGAACCTTTG	0.368000													34	26					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70011653	70011653	+	Silent	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr11:70011653C>T	ENST00000355303.5	+	20	2333	c.2028C>T	c.(2026-2028)aaC>aaT	p.N676N	ANO1_ENST00000530676.1_Silent_p.N530N|ANO1_ENST00000398543.2_Silent_p.N530N|ANO1_ENST00000531349.1_Silent_p.N385N|ANO1_ENST00000538023.1_Silent_p.N676N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	676					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGATCCAGAACAACCTGTTCG	0.637000													5	9					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3469389	3469389	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:3469389G>A	ENST00000324266.5	+	9	1894	c.1699G>A	c.(1699-1701)Gcg>Acg	p.A567T	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A567T|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	567							binding										GGCCGTGGAGGCGTATCATTC	0.527000													43	55					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79461793	79461793	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr4:79461793C>T	ENST00000264895.6	+	74	11994	c.11554C>T	c.(11554-11556)Cga>Tga	p.R3852*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3847					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGACGCAACCGAAGGGACCT	0.542000													21	30					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45535979	45535979	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr19:45535979G>T	ENST00000221452.8	+	9	1329	c.1179G>T	c.(1177-1179)ttG>ttT	p.L393F	RELB_ENST00000540120.1_Missense_Mutation_p.L393F|RELB_ENST00000505236.1_Missense_Mutation_p.L390F	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	393	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCGAGCCATTGCCTTTCACGT	0.612000													11	7					6.42651e-13	7.13272e-13	1	1	0
EPG5	57724	broad.mit.edu	37	18	43440187	43440187	+	Silent	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr18:43440187G>A	ENST00000282041.5	-	40	6925	c.6891C>T	c.(6889-6891)ggC>ggT	p.G2297G	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2297					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCATTTTTTGGCCAATCCAGG	0.557000													4	121					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52258507	52258507	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr15:52258507C>G	ENST00000299601.5	-	2	313	c.253G>C	c.(253-255)Gac>Cac	p.D85H	LEO1_ENST00000315141.5_Missense_Mutation_p.D85H	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	85	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GATCTATTGTCTGATCTTTCA	0.443000													4	162					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47705483	47705483	+	Silent	SNP	G	G	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:47705483G>T	ENST00000406134.1	+	14	2345	c.2283G>T	c.(2281-2283)ggG>ggT	p.G761G	MSH2_ENST00000543555.1_Silent_p.G695G|MSH2_ENST00000233146.2_Silent_p.G761G			P43246	MSH2_HUMAN	mutS homolog 2	761					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGGATTTGGGTTAGCATGGG	0.378000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				16	123					1.3612e-06	1.4321e-06	1	1	0
KCNC4	3749	broad.mit.edu	37	1	110765919	110765919	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr1:110765919G>A	ENST00000369787.3	+	2	1039	c.1012G>A	c.(1012-1014)Gcg>Acg	p.A338T	KCNC4_ENST00000438661.2_Missense_Mutation_p.A338T|KCNC4_ENST00000413138.3_Missense_Mutation_p.A338T|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	338					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTCATCCAAGGCGGCCCGCGA	0.632000													24	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611844	179611844	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:179611844A>G	ENST00000360870.5	-	46	15505	c.15283T>C	c.(15283-15285)Tac>Cac	p.Y5095H	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1203	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGTGGAGTATCTCTCCAGA	0.537000													39	55					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9780859	9780859	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr3:9780859A>G	ENST00000383829.2	+	3	1180	c.776A>G	c.(775-777)gAg>gGg	p.E259G	BRPF1_ENST00000302054.3_Missense_Mutation_p.E259G|BRPF1_ENST00000433861.2_Missense_Mutation_p.E259G|BRPF1_ENST00000457855.1_Missense_Mutation_p.E259G|BRPF1_ENST00000424362.1_Missense_Mutation_p.E259G	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	259					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TCGTACTTTGAGAGTCATAAT	0.488000													32	19					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308742	248308742	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr1:248308742C>T	ENST00000366476.1	+	1	293	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCTGGTTGTGCCACACAAATT	0.463000													5	354					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847864	123847864	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr11:123847864G>T	ENST00000531945.1	-	1	624	c.535C>A	c.(535-537)Cgc>Agc	p.R179S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R179C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGAGCAGGCGGAAGGTGAGG	0.552000													32	29					4.31634e-10	4.73859e-10	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													4	87					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													5	29					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1988157	1988157	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr12:1988157G>C	ENST00000382722.5	-	15	1971	c.1609C>G	c.(1609-1611)Ctg>Gtg	p.L537V	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.L473V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.L473V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.L537V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.L537V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.L422V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	537	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGCTCTCTCAGGGCCACATCT	0.607000													25	44					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388590	1388590	+	Silent	SNP	C	C	G			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr4:1388590C>G	ENST00000324803.4	+	1	3251	c.291C>G	c.(289-291)ctC>ctG	p.L97L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	97					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCACCTGCTCACACACGTGC	0.652000													23	621					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	685934	685934	+	Missense_Mutation	SNP	G	G	T	rs34001469		TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr18:685934G>T	ENST00000319815.6	-	2	1302	c.38C>A	c.(37-39)cCg>cAg	p.P13Q	ENOSF1_ENST00000580982.1_Missense_Mutation_p.P167Q|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.P161Q|ENOSF1_ENST00000340116.7_Missense_Mutation_p.P264Q|ENOSF1_ENST00000251101.7_Missense_Mutation_p.P243Q			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	243					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						AGTCTTTTCCGGTCCAATCAT	0.413000													31	42					2.47316e-13	2.77543e-13	1	1	0
C1orf146	388649	broad.mit.edu	37	1	92709888	92709888	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr1:92709888C>T	ENST00000370373.2	+	5	562	c.98C>T	c.(97-99)tCt>tTt	p.S33F	C1orf146_ENST00000370375.3_Missense_Mutation_p.S92F			Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	92										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTGGTTTTGTCTGCTGCCCTC	0.328000													5	42					0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55543595	55543595	+	Silent	SNP	C	C	T	rs28385645		TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr19:55543595C>T	ENST00000310373.3	-	3	264	c.237G>A	c.(235-237)aaG>aaA	p.K79K	CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000333884.2_Silent_p.K79K|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000417454.1_Silent_p.K79K	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	79	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCAGACTTCTCTTCATGGCCG	0.632000													85	67					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37028509	37028509	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:37028509T>C	ENST00000379242.3	+	13	1426	c.1124T>C	c.(1123-1125)aTa>aCa	p.I375T	VIT_ENST00000401530.1_Missense_Mutation_p.I339T|VIT_ENST00000497382.1_Missense_Mutation_p.I29T|VIT_ENST00000389975.3_Missense_Mutation_p.I360T|VIT_ENST00000379241.3_Missense_Mutation_p.I338T|VIT_ENST00000404084.1_Missense_Mutation_p.I312T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	360	VWFA 1.			A -> T (in Ref. 1; AAL18263).		proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AAGACAGCCATAGAGAAAATT	0.398000													72	83					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132897343	132897343	+	Silent	SNP	C	C	G			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr9:132897343C>G	ENST00000372406.1	+	20	2253	c.1746C>G	c.(1744-1746)gtC>gtG	p.V582V	GPR107_ENST00000347136.6_Silent_p.V534V|GPR107_ENST00000372410.3_Silent_p.V553V	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	582						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGAAGAAAGTCAAGAAGGTGA	0.498000													15	0					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440406	40440406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr4:40440406C>A	ENST00000319592.4	-	4	1214	c.505G>T	c.(505-507)Gag>Tag	p.E169*	RBM47_ENST00000381795.6_Nonsense_Mutation_p.E169*|RBM47_ENST00000295971.7_Nonsense_Mutation_p.E169*|RBM47_ENST00000381793.2_Nonsense_Mutation_p.E169*|RBM47_ENST00000514014.1_Nonsense_Mutation_p.E131*|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	169	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCAATCTCCTCCAGGATTTCC	0.642000													5	106					0.014758	0.014758	1	1	0
SLC25A27	9481	broad.mit.edu	37	6	46630199	46630199	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr6:46630199T>C	ENST00000371347.5	+	4	722	c.470T>C	c.(469-471)aTg>aCg	p.M157T	SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000411689.2_Missense_Mutation_p.M157T|SLC25A27_ENST00000452689.2_Missense_Mutation_p.M71T	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	157					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			CAGATGCAAATGGAAGGAAAA	0.418000													23	27					0	0	1	0	0
LINC00922	283867	broad.mit.edu	37	16	65397187	65397187	+	RNA	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr16:65397187C>T	ENST00000569736.1	-	0	493				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						CTCTGGACTCCCAAGGTCCTA	0.418000													19	16					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830779	2830779	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr8:2830779T>A	ENST00000520002.1	-	58	9341	c.8786A>T	c.(8785-8787)cAt>cTt	p.H2929L	CSMD1_ENST00000537824.1_Missense_Mutation_p.H2928L|CSMD1_ENST00000602723.1_Missense_Mutation_p.H2871L|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2871L|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2870L|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2929L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2929	Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGAGACCCATGTGCTGGGGT	0.488000													118	123					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185278595	185278595	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr1:185278595C>T	ENST00000367498.3	-	3	653	c.31G>A	c.(31-33)Gat>Aat	p.D11N	IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.D11N	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	11					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AAATTTTCATCCTCAAACATC	0.323000													31	29					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626625	140626625	+	Silent	SNP	C	C	G			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr5:140626625C>G	ENST00000231173.3	+	1	1479	c.1479C>G	c.(1477-1479)ccC>ccG	p.P493P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		493	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCGCCCCGGGACCCGC	0.662000													82	129					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148871305	148871305	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr3:148871305G>A	ENST00000296051.2	+	7	1410	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	HPS3_ENST00000460120.1_Missense_Mutation_p.V259I	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	424						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAGTATGGATGTCTGTGCTTT	0.368000									Hermansky-Pudlak syndrome				54	60					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135919182	135919182	+	Silent	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr9:135919182C>T	ENST00000372097.5	+	3	764	c.441C>T	c.(439-441)gaC>gaT	p.D147D	GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372108.5_Silent_p.D147D|GTF3C5_ENST00000372099.6_Silent_p.D138D|GTF3C5_ENST00000372095.5_Silent_p.D22D|GTF3C5_ENST00000342018.8_Silent_p.D147D	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	147						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CAATGTATGACAAGGTGCTCA	0.587000													4	67					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6620187	6620187	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr9:6620187C>A	ENST00000321612.6	-	3	617	c.467G>T	c.(466-468)gGa>gTa	p.G156V		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	156					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACATTACCATCCTGAGTTCTC	0.448000													9	45					7.48243e-07	7.955e-07	1	1	0
CTNND1	1500	broad.mit.edu	37	11	57571091	57571091	+	Splice_Site	SNP	A	A	G			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr11:57571091A>G	ENST00000524630.1	+	8	1933		c.e8-1		CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000527467.1_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000531014.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000526772.1_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000533667.1_Splice_Site|CTNND1_ENST00000525902.1_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGTCTCTTCCAGGAACCCTGT	0.443000													8	6					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219888839	219888839	+	Silent	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr2:219888839G>A	ENST00000341552.5	-	15	2576	c.2493C>T	c.(2491-2493)ccC>ccT	p.P831P	CCDC108_ENST00000441968.1_Silent_p.P831P|CCDC108_ENST00000453220.1_Silent_p.P831P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	831						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGGCCCCGGGTGCCACAA	0.597000													53	66					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52258615	52258615	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr15:52258615C>T	ENST00000299601.5	-	2	205	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	LEO1_ENST00000315141.5_Missense_Mutation_p.E49K	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	49	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCACCTCTTTCATCCTGATCA	0.438000													5	191					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76170989	76170989	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr11:76170989A>G	ENST00000529032.1	+	5	431	c.431A>G	c.(430-432)tAt>tGt	p.Y144C	C11orf30_ENST00000533248.1_Missense_Mutation_p.Y158C|C11orf30_ENST00000524490.1_Missense_Mutation_p.Y145C|C11orf30_ENST00000525038.1_Missense_Mutation_p.Y159C|C11orf30_ENST00000525919.1_Missense_Mutation_p.Y145C|C11orf30_ENST00000524767.1_Missense_Mutation_p.Y159C|C11orf30_ENST00000343878.3_Missense_Mutation_p.Y144C|C11orf30_ENST00000334736.3_Missense_Mutation_p.Y144C			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	144	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GTGGTTTGCTATTCCTACACA	0.428000													80	65					0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6452399	6452399	+	Missense_Mutation	SNP	C	C	A	rs140513558		TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr19:6452399C>A	ENST00000301454.4	-	8	1101	c.995G>T	c.(994-996)cGt>cTt	p.R332L	SLC25A23_ENST00000414491.2_Intron|SLC25A23_ENST00000334510.5_Missense_Mutation_p.R332L	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	332					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GTAGAAGGCACGGGGCCCCTC	0.667000													9	26					0.00448238	0.00457293	1	1	0
HARS	3035	broad.mit.edu	37	5	140056309	140056309	+	Missense_Mutation	SNP	C	C	T	rs151258227		TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr5:140056309C>T	ENST00000504366.1	-	9	2736	c.917G>A	c.(916-918)cGc>cAc	p.R306H	HARS_ENST00000448240.1_Missense_Mutation_p.R180H|HARS_ENST00000431330.2_Missense_Mutation_p.R261H|HARS_ENST00000457527.2_Missense_Mutation_p.R355H|HARS_ENST00000438307.2_Missense_Mutation_p.R335H|HARS_ENST00000415192.2_Missense_Mutation_p.R301H|HARS_ENST00000504156.1_Missense_Mutation_p.R375H|HARS_ENST00000307633.3_Missense_Mutation_p.R315H			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	375					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TGGCACCTTGCGCCCTTTGGG	0.597000													4	178					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5024806	5024806	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr3:5024806T>A	ENST00000256495.3	+	5	1271	c.668T>A	c.(667-669)aTc>aAc	p.I223N		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	223						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GTGCCAGTCATCCAGCGGACT	0.577000													33	49					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388960	131388960	+	Silent	SNP	C	C	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr9:131388960C>A	ENST00000372739.3	+	49	6680	c.6570C>A	c.(6568-6570)atC>atA	p.I2190I	SPTAN1_ENST00000372731.4_Silent_p.I2185I|SPTAN1_ENST00000358161.5_Silent_p.I2190I	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2185					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TACAGAAAATCATCAAGGTAC	0.597000													4	14					0.00909568	0.00918664	1	1	0
ACLY	47	broad.mit.edu	37	17	40058008	40058008	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr17:40058008A>C	ENST00000352035.2	-	11	1254	c.1124T>G	c.(1123-1125)aTc>aGc	p.I375S	ACLY_ENST00000590151.1_Missense_Mutation_p.I375S|ACLY_ENST00000393896.2_Missense_Mutation_p.I375S|ACLY_ENST00000537919.1_Missense_Mutation_p.I114S|ACLY_ENST00000353196.1_Missense_Mutation_p.I375S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	375					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCGGACAAAGATTGTGACTTC	0.537000													104	90					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6329131	6329131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr17:6329131G>T	ENST00000381129.3	-	6	884	c.804C>A	c.(802-804)taC>taA	p.Y268*	AIPL1_ENST00000574506.1_Nonsense_Mutation_p.Y256*|AIPL1_ENST00000250087.5_Nonsense_Mutation_p.Y205*|AIPL1_ENST00000576307.1_Nonsense_Mutation_p.Y208*|AIPL1_ENST00000570466.1_Nonsense_Mutation_p.Y246*|AIPL1_ENST00000576776.1_Nonsense_Mutation_p.Y244*|AIPL1_ENST00000575265.1_3'UTR	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	268					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GGGCACGCACGTAGTAGGCCT	0.662000													15	22					4.7546e-09	5.10867e-09	1	1	0
SLC43A3	29015	broad.mit.edu	37	11	57185273	57185273	+	Silent	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr11:57185273G>A	ENST00000395123.2	-	8	923	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	SLC43A3_ENST00000395124.1_Silent_p.L207L|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Silent_p.L220L|SLC43A3_ENST00000529554.1_Silent_p.L207L|SLC43A3_ENST00000352187.1_Silent_p.L207L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	207					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CGGGGCATCAGGAGGAAAGTG	0.552000													24	51					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746460	37746460	+	Silent	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr9:37746460C>T	ENST00000539465.1	+	16	5024	c.4431C>T	c.(4429-4431)atC>atT	p.I1477I	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.I1477I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1477						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGCATGTGATCAGAATGGACC	0.602000													26	9					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr17:7577505T>A	ENST00000420246.2	-	7	908	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000269305.4_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000413465.2_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000455263.2_Missense_Mutation_p.D259V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(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)		TGACCTGGAGTCTTCCAGTGT	0.587000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	46					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131008252	131008252	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr5:131008252C>T	ENST00000307968.7	-	13	1800	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K	FNIP1_ENST00000307954.8_Missense_Mutation_p.E584K|FNIP1_ENST00000510461.1_Missense_Mutation_p.E629K|CTC-432M15.3_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTTCTCTCTCTTGTTGTGAA	0.388000													7	133					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199523	71199523	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr14:71199523C>T	ENST00000554752.2	-	11	2562	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	MAP3K9_ENST00000554146.1_Missense_Mutation_p.D583N|MAP3K9_ENST00000553414.1_Missense_Mutation_p.D588N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.D832N|MAP3K9_ENST00000555993.2_Missense_Mutation_p.D869N	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	855					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACAATTTCATCGCTGTCGGAG	0.602000													6	37					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260723	42260723	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr19:42260723G>A	ENST00000199764.6	+	2	498	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	94	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.A94T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCAGGGCCCGCATACAGTGG	0.463000													5	331					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507114	130507114	+	Missense_Mutation	SNP	G	G	A	rs142472912	by1000genomes	TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr9:130507114G>A	ENST00000314830.8	-	7	1642	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	SH2D3C_ENST00000373277.4_Missense_Mutation_p.A353V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A352V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A442V|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A350V|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A156V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	510					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTCTCAGTCGCTGCCCACTC	0.627000													17	146					0	0	1	0	0
PMS2P3	5387	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1															lung(1)	1						TCCTTTGGGGatatatatatat	0.302													3	3	---	---	---	---					
FA2H	79152	broad.mit.edu	37	16	74748163	74748163	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr16:74748163delA	ENST00000219368.3	-	7	1113	c.1044delT	c.(1042-1044)tttfs	p.F348fs	FA2H_ENST00000544337.1_Frame_Shift_Del_p.F135fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	348					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TGCTGATACCAAATCCTAGAG	0.557													2	4	---	---	---	---					
SERPINF1	5176	broad.mit.edu	37	17	1670235	1670235	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chr17:1670235delG	ENST00000254722.4	+	2	194	c.31delG	c.(31-33)ggafs	p.G11fs	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	11					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CCTCTGCATTGGAGCCCTCCT	0.687													2	4	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123217301	123217302	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CF-A5U8-01A-11D-A289-08	TCGA-CF-A5U8-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b63b629-7d3c-465b-989b-e2e05daabc20	658e6725-4b08-4092-a730-4a9ab51ad5d5	g.chrX:123217301_123217302delTA	ENST00000371160.1	+	29	3245_3246	c.2955_2956delTA	c.(2953-2958)cctaatfs	p.N986fs	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.N986fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.N986fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.N986fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.N986fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.N917fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	986					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTAAAGAGCCTAATCCGCAAGG	0.322													23	0	---	---	---	---					
