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
GOLGA8DP	100132979	broad.mit.edu	37	15	22709152	22709152	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr15:22709152G>T	uc010axw.2	-	10	1245	c.347C>A	c.(346-348)gCg>gAg	p.A116E	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		GGCCTGGAGCGCTCCTGCCAC	0.607000														30			6		3.59834e-05	3.86687e-05	0.001168	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chrGL000205.1:117582C>T	uc002kgk.4	+	0		c.960C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000														25			6		0	0	0.003080	0	0
LSM14B	149986	broad.mit.edu	37	20	60701373	60701373	+	Missense_Mutation	SNP	C	G	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr20:60701373C>G	uc010gjy.1	+	2	511	c.305C>G	c.(304-306)tCt>tGt	p.S102C	LSM14B_uc002ybt.2_Missense_Mutation_p.S102C|LSM14B_uc010gjx.1_Missense_Mutation_p.S128C|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	102					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCCCTGGGTTCTGCCTCCGCC	0.657000														14			15		0	0	0.004007	0	0
FSTL5	56884	broad.mit.edu	37	4	162841556	162841556	+	Splice_Site	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr4:162841556C>T	uc003iqh.3	-	4	845	c.409_splice	c.e4+1	p.G137_splice	FSTL5_uc003iqi.3_Splice_Site_p.G136_splice|FSTL5_uc010iqv.3_Splice_Site_p.G136_splice	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	137						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTCATTTACCTTTAAAGAAG	0.378000														32			20		0	0	0.007413	0	0
MTUS2	23281	broad.mit.edu	37	13	29600879	29600879	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr13:29600879G>A	uc001usl.4	+	0	2132	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	682	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCCCACGAAGAGAAGGCAGC	0.587000														20			16		0	0	0.004007	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	A	A	rs112083427		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr6:170871052G>A	uc003qxu.3	+	2	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_uc011ehf.2_Silent_p.Q56Q|TBP_uc003qxt.3_Silent_p.Q76Q|TBP_uc011ehg.1_Silent_p.Q76Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(8)|p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000														49			9		0	0	0.004482	0	0
HSPA5	3309	broad.mit.edu	37	9	128001229	128001229	+	Silent	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:128001229C>T	uc004bpn.3	-	4	1248	c.987G>A	c.(985-987)gaG>gaA	p.E329E		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	329					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CCATGTTGAGCTCTTCAAATT	0.418000										Prostate(1;0.17)				65			4		0	0	0.009096	0	0
APPBP2	10513	broad.mit.edu	37	17	58603215	58603215	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr17:58603215G>C	uc002iys.1	-	0	366	c.78C>G	c.(76-78)atC>atG	p.I26M	APPBP2_uc010ddl.1_5'UTR	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	26					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GGCGGGAGCGGATGTAGTTGT	0.582000														40			3		0	0	0.004672	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	G	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr3:126707544T>G	uc003ejg.3	+	0	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	36	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000														11			12		0	0	0.007413	0	0
TAGLN2	8407	broad.mit.edu	37	1	159890149	159890149	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr1:159890149T>C	uc001fun.1	-	1	224	c.151A>G	c.(151-153)Aac>Gac	p.N51D	TAGLN2_uc010piy.1_Missense_Mutation_p.N51D	NM_003564	NP_003555	P37802	TAGL2_HUMAN	Homo sapiens transgelin 2 (TAGLN2), mRNA.	51	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCTGGAAGTTCTCGCGTCCA	0.587000														4			40		0	0	0.011902	0	0
TAF1B	9014	broad.mit.edu	37	2	10016065	10016065	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr2:10016065A>G	uc002qzz.3	+	6	725	c.625A>G	c.(625-627)Atg>Gtg	p.M209V	TAF1B_uc010exc.2_Missense_Mutation_p.M209V|TAF1B_uc002qzy.4_Missense_Mutation_p.M209V|TAF1B_uc010yja.2_Intron|TAF1B_uc010exd.3_Intron	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	209					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATCGTGAAGATGACCATGCC	0.413000														67			52		0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311344	311344	+	RNA	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chrGL000192.1:311344C>T	uc010yij.1	-	6		c.1025G>A			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TACCTTGCTGCAATTAAGAGC	0.577000														22			5		0	0	0.014758	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117657	117657	+	RNA	SNP	G	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chrGL000205.1:117657G>T	uc002kgk.4	+	0		c.1035G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGGAAGGCACGCGAGTTCAGA	0.622000														31			6		8.12818e-05	8.48158e-05	0.001984	1	0
CPNE6	9362	broad.mit.edu	37	14	24543956	24543956	+	Silent	SNP	C	T	T	rs149746359		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:24543956C>T	uc010tnv.2	+	7	935	c.789C>T	c.(787-789)cgC>cgT	p.R263R	CPNE6_uc001wlm.3_Silent_p.R33R|CPNE6_uc001wll.3_Silent_p.R208R|CPNE6_uc001wln.3_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	208					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		AGCCGTTCCGCCTGTCCCTGC	0.552000														25			3		0	0	0.004672	0	0
XAB2	56949	broad.mit.edu	37	19	7690779	7690779	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr19:7690779C>T	uc002mgx.3	-	5	835	c.809G>A	c.(808-810)gGc>gAc	p.G270D		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	270					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCGAAATGGCCGCTGCGGAT	0.632000								Direct reversal of damage;Nucleotide excision repair (NER)						34			3		0	0	0.004672	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070069	141070069	+	Silent	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:141070069C>T	uc010ncq.3	+	3	1149	c.309C>T	c.(307-309)ccC>ccT	p.P103P						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		GGTACGTGCCCCGCGCTGTGC	0.711000														33			3		0	0	0.004672	0	0
ZNF799	90576	broad.mit.edu	37	19	12491949	12491949	+	Missense_Mutation	SNP	T	C	C	rs11668955	by1000genomes	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr19:12491949T>C	uc002mts.4	-	3	647	c.127A>G	c.(127-129)Acc>Gcc	p.T43A				Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	149	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TAACTGAAGGTTTTCCAAAAT	0.403000														38			3		0	0	0.004672	0	0
FUBP1	8880	broad.mit.edu	37	1	78422352	78422352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr1:78422352C>T	uc001dii.3	-	16	1699	c.1610G>A	c.(1609-1611)tGg>tAg	p.W537*	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.W558*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATAAGCAGCCCAAGCTGCTGA	0.458000			"""F, N"""		oligodendroglioma									5			23		0	0	0.016522	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342234	60342234	+	RNA	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr17:60342234C>T	uc010woz.2	-	13		c.1895G>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GTCTGGTGTGCTCCATCTCTG	0.498000														39			5		0	0	0.003080	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129853996	129853996	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:129853996T>C	uc004bqr.1	-	3	1735	c.1235A>G	c.(1234-1236)aAc>aGc	p.N412S	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Missense_Mutation_p.N110S	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	412	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTGCTTGCCGTTGTGCCATGT	0.537000														129			109		0	0	0.014410	0	0
MEN1	4221	broad.mit.edu	37	11	64573758	64573758	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr11:64573758C>T	uc001obj.3	-	6	1083	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MEN1_uc001obk.3_Missense_Mutation_p.R337H|MEN1_uc001obl.3_Missense_Mutation_p.R297H|MEN1_uc001obm.3_Missense_Mutation_p.R332H|MEN1_uc001obn.3_Missense_Mutation_p.R337H|MEN1_uc001obo.3_Missense_Mutation_p.R337H|MEN1_uc001obq.3_Missense_Mutation_p.R337H|MEN1_uc001obr.3_Missense_Mutation_p.R337H	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	337	Interaction with FANCD2.				DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCGCACATTGCGGTTGCGACA	0.602000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		64			47		0	0	0.011902	0	0
HKDC1	80201	broad.mit.edu	37	10	71007297	71007297	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr10:71007297C>T	uc001jpf.4	+	8	1346	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	HKDC1_uc010qje.2_Missense_Mutation_p.R268W	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	405					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGGTGGAACGGCTCCGGAC	0.612000														35			17		0	0	0.004990	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	C	C	rs712666	by1000genomes	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr5:112227939T>C	uc021ycm.1	+	0	631	c.603T>C	c.(601-603)tcT>tcC	p.S201S	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;									p.S201S(2)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453000														79			4		0	0	0.009096	0	0
PRIC285	85441	broad.mit.edu	37	20	62200696	62200696	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr20:62200696T>C	uc002yfm.2	-	4	1785	c.893A>G	c.(892-894)aAc>aGc	p.N298S	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	298					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CACGTGGCGGTTGCCAGTGTG	0.697000														8			6		0	0	0.001168	0	0
AKAP6	9472	broad.mit.edu	37	14	33293788	33293788	+	Missense_Mutation	SNP	G	A	A	rs140237441	byFrequency	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:33293788G>A	uc001wrq.3	+	12	6939	c.6769G>A	c.(6769-6771)Gga>Aga	p.G2257R		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2257					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.G2257R(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGAAAGTTCCGGAAAACCAGG	0.438000														35			27		0	0	0.004656	0	0
JKAMP	51528	broad.mit.edu	37	14	59970666	59970666	+	Missense_Mutation	SNP	T	A	A			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:59970666T>A	uc001xei.4	+	6	1356	c.854T>A	c.(853-855)gTg>gAg	p.V285E	JKAMP_uc001xef.4_Missense_Mutation_p.V271E|JKAMP_uc001xeh.4_Missense_Mutation_p.V265E|JKAMP_uc001xeg.4_Missense_Mutation_p.V279E|JKAMP_uc010try.2_Missense_Mutation_p.V208E|JKAMP_uc001xej.4_Missense_Mutation_p.V208E	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	286					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						ATTTCCAGAGTGGATAAACTT	0.398000														32			24		0	0	0.018920	0	0
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr8:102213947A>T	uc003yka.3	-	2	438	c.23T>A	c.(22-24)aTt>aAt	p.I8N	ZNF706_uc003ykb.3_Missense_Mutation_p.I8N	NM_001042510	NP_057180	Q9Y5V0	ZN706_HUMAN	Homo sapiens zinc finger protein 706 (ZNF706), transcript variant 1, mRNA.	8						intracellular	zinc ion binding			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393000														27			10		0	0	0.004990	0	0
MED14	9282	broad.mit.edu	37	X	40572233	40572233	+	Silent	SNP	T	C	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chrX:40572233T>C	uc004dex.4	-	5	854	c.714A>G	c.(712-714)ggA>ggG	p.G238G	MED14_uc010nhe.1_Silent_p.G122G	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	238	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGGTCATCTCCCATCACAG	0.383000														6			15		0	0	0.004990	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														21			8		0	0	0.004482	0	0
MFAP1	4236	broad.mit.edu	37	15	44109449	44109449	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr15:44109449T>C	uc001zth.1	-	1	461	c.277A>G	c.(277-279)Att>Gtt	p.I93V		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	93						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTTCACTAATACGGTTCTGT	0.398000														61			32		0	0	0.010818	0	0
ACTA2	59	broad.mit.edu	37	10	90708581	90708581	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr10:90708581A>G	uc001kfp.3	-	1	223	c.107T>C	c.(106-108)aTt>aCt	p.I36T	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Intron|ACTA2_uc001kfq.3_Missense_Mutation_p.I36T|ACTA2_uc010qmz.1_Missense_Mutation_p.I36T	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	36					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ACGTCCCACAATGGATGGGAA	0.502000														55			57		0	0	0.014410	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									39			19		0	0	0.006122	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	Missense_Mutation	SNP	G	A	A	rs142836124	by1000genomes	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:141070116G>A	uc010ncq.3	+	3	1196	c.356G>A	c.(355-357)cGc>cAc	p.R119H						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000														53			5		0	0	0.001168	0	0
GPR110	266977	broad.mit.edu	37	6	46976957	46976957	+	Silent	SNP	G	C	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr6:46976957G>C	uc003oyt.3	-	10	2413	c.2214C>G	c.(2212-2214)tcC>tcG	p.S738S	GPR110_uc011dwl.2_Silent_p.S426S	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	738					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TGCTTCCATTGGACCAGTTAA	0.478000														69			4		0	0	0.009096	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227799	112227799	+	Missense_Mutation	SNP	A	G	G	rs712665	by1000genomes	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr5:112227799A>G	uc021ycm.1	+	0	491	c.463A>G	c.(463-465)Agt>Ggt	p.S155G	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						TTTAGAAAATAGTACCACATG	0.433000														74			6		0	0	0.001984	0	0
RYR3	6263	broad.mit.edu	37	15	33822854	33822854	+	Missense_Mutation	SNP	C	G	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr15:33822854C>G	uc001zhi.3	+	3	411	c.341C>G	c.(340-342)tCt>tGt	p.S114C	RYR3_uc010bar.3_Missense_Mutation_p.S114C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	114	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGGCACTCTTTCAGCGGA	0.512000														10			7		0	0	0.003080	0	0
NCOA4	8031	broad.mit.edu	37	10	51579175	51579175	+	Missense_Mutation	SNP	A	C	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr10:51579175A>C	uc001jis.4	+	1	237	c.34A>C	c.(34-36)Agt>Cgt	p.S12R	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.S28R|NCOA4_uc010qhd.2_Missense_Mutation_p.S28R|NCOA4_uc010qhe.2_Intron|NCOA4_uc010qhf.2_Intron|NCOA4_uc001jit.3_Missense_Mutation_p.S12R|NCOA4_uc009xoo.3_Missense_Mutation_p.S12R	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	12					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGGCAGCTCCAGTAATAGAGA	0.408000			T	RET	papillary thyroid									60			12		0	0	0.016723	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	A	A	rs12366766		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000														46			4		0	0	0.009096	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL									61			8		0	0	0.008291	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715465	99715465	+	RNA	SNP	G	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr5:99715465G>T	uc011cuw.1	-	3		c.445C>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		TAGTGGCTGGGGCAGAAGGTG	0.577000														8			3		6.4e-05	6.77647e-05	0.004672	1	0
JKAMP	51528	broad.mit.edu	37	14	59970667	59970667	+	Silent	SNP	G	A	A			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:59970667G>A	uc001xei.4	+	6	1357	c.855G>A	c.(853-855)gtG>gtA	p.V285V	JKAMP_uc001xef.4_Silent_p.V271V|JKAMP_uc001xeh.4_Silent_p.V265V|JKAMP_uc001xeg.4_Silent_p.V279V|JKAMP_uc010try.2_Silent_p.V208V|JKAMP_uc001xej.4_Silent_p.V208V	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	286					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TTTCCAGAGTGGATAAACTTG	0.398000														32			24		0	0	0.018920	0	0
PAX4	5078	broad.mit.edu	37	7	127255106	127255106	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr7:127255106C>T	uc010lld.1	-	1	370	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PAX4_uc003vmf.2_Missense_Mutation_p.R53H|PAX4_uc003vmg.1_Missense_Mutation_p.R55H|PAX4_uc003vmh.3_Missense_Mutation_p.R53H	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	63	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GACACCTGTGCGGTAGTAACG	0.572000														42			44		0	0	0.010771	0	0
PBRM1	55193	broad.mit.edu	37	3	52621372	52621372	+	Silent	SNP	G	C	C			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr3:52621372G>C	uc003des.2	-	18	3132	c.3120C>G	c.(3118-3120)gtC>gtG	p.V1040V	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.V1040V|PBRM1_uc003der.2_Silent_p.V1008V|PBRM1_uc003det.2_Silent_p.V1055V|PBRM1_uc003deu.2_Silent_p.V1055V|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.V1040V|PBRM1_uc010hmk.1_Silent_p.V1015V|PBRM1_uc003dey.2_Silent_p.V1015V|PBRM1_uc003dez.1_Silent_p.V1039V|PBRM1_uc003dfb.1_Silent_p.V952V|PBRM1_uc003dfa.1_Silent_p.V386V	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1040	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTTACCTTGACAAACATGA	0.318000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									38			29		0	0	0.007291	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439357	14439357	+	RNA	SNP	C	G	G			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr21:14439357C>G	uc002yja.4	+	9		c.2875C>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGAATCAGCTCAATCAATCGC	0.279000														11			3		0	0	0.009096	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	104201	104201	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chrGL000209.1:104201G>A	uc021vdb.1	+	3	619	c.608G>A	c.(607-609)cGt>cAt	p.R203H	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.R203H	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	203	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GGCTCTTTCCGTGACTCTCCA	0.562000														10			6		0	0	0.013537	0	0
PCDH10	57575	broad.mit.edu	37	4	134071550	134071553	+	Frame_Shift_Del	DEL	CAAA	-	-			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr4:134071550_134071553delCAAA	uc003iha.3	+	0	1081_1084	c.255_258delCAAA	c.(253-258)tgcaaafs	p.C85fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Del_p.C85fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	85	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C85*(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACAAATCTGCAAACAGAGCCCCT	0.549													---	72	---	---	30	---					
PIK3R1	5295	broad.mit.edu	37	5	67589586	67589591	+	In_Frame_Del	DEL	ATGAAT	-	-	rs17852841		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr5:67589586_67589591delATGAAT	uc003jva.3	+	10	1929_1934	c.1349_1354delATGAAT	c.(1348-1356)catgaatat>cat	p.EY451del	PIK3R1_uc003jvc.3_In_Frame_Del_p.EY151del|PIK3R1_uc003jvd.3_In_Frame_Del_p.EY181del|PIK3R1_uc003jve.3_In_Frame_Del_p.EY130del|PIK3R1_uc021xzn.1_In_Frame_Del_p.EY88del|PIK3R1_uc011crb.2_In_Frame_Del_p.EY121del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	451			E -> K (in dbSNP:rs17852841).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.H450_E451del(4)|p.G446_Y452>VI(2)|p.Y452N(2)|p.E451_Y452del(2)|p.D434_Q475del(2)|p.E451_Y452delEY(2)|p.Y152N(1)|p.Y452_Q455>SGGSRIK(1)|p.0?(1)|p.?(1)|p.Y182N(1)|p.N453_T454insN(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAAAATTACATGAATATAACACTCA	0.277			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			---	27	---	---	21	---					
HDAC2	3066	broad.mit.edu	37	6	114277279	114277280	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr6:114277279_114277280insT	uc003pwd.2	-	4	681_682	c.394_395insA	c.(394-396)atgfs	p.M132fs	HDAC2_uc003pwc.2_Frame_Shift_Ins_p.M102fs|HDAC2_uc003pwe.2_Frame_Shift_Ins_p.M102fs	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	132	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	ATTAACAGCCATATCAGTCTGT	0.356													---	64	---	---	50	---					
BHLHE22	27319	broad.mit.edu	37	8	65494037	65494038	+	In_Frame_Ins	INS	-	AGCAGC	AGCAGC			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr8:65494037_65494038insAGCAGC	uc003xvi.3	+	0	1243_1244	c.690_691insAGCAGC	c.(688-693)insAGCAGC	p.234_235insSS	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcagcagcagcagcagcagcag	0.698													---	5	---	---	3	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	-	-	rs3812754	byFrequency	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr11:12316384_12316389delCTCCTA	uc001mkg.1	+	2	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	470	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(4)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													---	3	---	---	11	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	-	-	rs66529359	by1000genomes	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	uc001sau.1	-	8	1715_1735	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y	KRT1_uc001sav.1_Splice_Site_p.G556_splice	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(6)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													---	15	---	---	9	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	138	---	---	13	---					
CIC	23152	broad.mit.edu	37	19	42798786	42798787	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr19:42798786_42798787insA	uc002otf.1	+	18	4398_4399	c.4358_4359insA	c.(4357-4359)ctafs	p.L1453fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTTGGGGAGCTAGAGTATGACA	0.644			"""Mis, F, S"""		oligodendroglioma								---	14	---	---	25	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	-	-			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr19:46299147_46299149delCCT	uc002pdm.3	-	5	2303_2305	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_uc002pdl.3_In_Frame_Del_p.E447del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													---	64	---	---	7	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	-	-			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr20:23345921_23345923delGAG	uc010gdb.3	+	2	1075_1077	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_uc002wsy.3_In_Frame_Del_p.E306del|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_In_Frame_Del_p.E306del	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													---	58	---	---	8	---					
