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
VSX2	338917	broad.mit.edu	37	14	74726471	74726471	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr14:74726471C>T	uc001xpq.3	+	3	836	c.746C>T	c.(745-747)gCc>gTc	p.A249V		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	249	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GACTCCTGTGCCCCGTGGCTA	0.657000													3	19					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975311	51975311	+	Silent	SNP	A	A	G			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr15:51975311A>G	uc002abh.3	+	2	574	c.171A>G	c.(169-171)acA>acG	p.T57T	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	57					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTAAAAAAACATATCCTCCAG	0.343000													39	42					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546430	11546430	+	Silent	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr12:11546430G>A	uc010shk.1	-	2	617	c.582C>T	c.(580-582)ccC>ccT	p.P194P		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.P194L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GAGGAGGTGGGGGACCTTGGG	0.607000													7	278					0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34657044	34657044	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr9:34657044G>A	uc003zvi.3	+	4	1700	c.344G>A	c.(343-345)cGc>cAc	p.R115H	IL11RA_uc011loq.2_Missense_Mutation_p.R115H|IL11RA_uc003zvj.3_Missense_Mutation_p.R115H|IL11RA_uc003zvk.3_Missense_Mutation_p.R115H|IL11RA_uc010mke.3_5'UTR	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	115	Fibronectin type-III 1.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCTCCAGCCCGCCCTGTTGTC	0.592000													24	58					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26377234	26377234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:26377234G>T	uc001isn.2	+	14	1822	c.1462G>T	c.(1462-1464)Gga>Tga	p.G488*	MYO3A_uc009xko.1_Nonsense_Mutation_p.G488*|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Nonsense_Mutation_p.G488*	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	488	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGCAGATTTGGAAAATACTT	0.378000													31	55					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521715	125521715	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:125521715G>A	uc010flu.3	+	15	2888	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E841K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	841	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATTCGACTCGAAATAAGCTG	0.373000													30	57					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117775256	117775256	+	Silent	SNP	T	T	C	rs137900857		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chrX:117775256T>C	uc004eqp.2	+	38	4311	c.4248T>C	c.(4246-4248)acT>acC	p.T1416T	DOCK11_uc004eqq.2_Silent_p.T1195T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1416					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CATTTTTCACTCAGTGCTTCA	0.383000													18	22					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33567504	33567504	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr20:33567504C>T	uc002xbi.2	+	6	682	c.365C>T	c.(364-366)cCg>cTg	p.P122L	MYH7B_uc010gfa.1_Missense_Mutation_p.P80L	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	80	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity	p.P122Q(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCCATGAACCCGCCTCGCTTC	0.637000													30	47					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47038461	47038461	+	Silent	SNP	C	C	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:47038461C>A	uc003cqp.3	+	17	2753	c.2574C>A	c.(2572-2574)atC>atA	p.I858I	NBEAL2_uc010hjm.2_Silent_p.I419I	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	858							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGAACAACATCTGCCTGGACC	0.622000													8	27					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36680210	36680210	+	Silent	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr22:36680210G>A	uc003apg.3	-	39	5925	c.5694C>T	c.(5692-5694)cgC>cgT	p.R1898R		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1898					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTCCAGCTCGCGCTGCAGTT	0.667000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				4	101					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52596043	52596043	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:52596043C>T	uc001jjj.3	-	5	583	c.395G>A	c.(394-396)aGt>aAt	p.S132N	A1CF_uc010qho.2_Missense_Mutation_p.S140N|A1CF_uc010qhn.2_Missense_Mutation_p.S140N|A1CF_uc009xov.3_Missense_Mutation_p.S132N|A1CF_uc001jji.3_Missense_Mutation_p.S132N|A1CF_uc001jjh.3_Missense_Mutation_p.S140N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	132	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTTGTCCACACTGGCACAAAC	0.433000													31	39					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140799248	140799248	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:140799248G>A	uc003lkn.2	+	0	1989	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.V608M|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	609	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTACCACGTGGTGCAGGC	0.687000													4	105					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158655065	158655065	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:158655065T>A	uc001fst.1	-	1	296	c.97A>T	c.(97-99)Act>Tct	p.T33S		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	33					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATACCGAGTCAACACTTCC	0.478000													40	81					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678110	48678110	+	Silent	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr17:48678110G>A	uc002irk.1	+	17	4086	c.3714G>A	c.(3712-3714)gcG>gcA	p.A1238A	CACNA1G_uc002iri.1_Silent_p.A1238A|CACNA1G_uc002irj.1_Silent_p.A1215A|CACNA1G_uc002irl.1_Silent_p.A1215A|CACNA1G_uc002irm.1_Silent_p.A1215A|CACNA1G_uc002irn.1_Silent_p.A1215A|CACNA1G_uc002iro.1_Silent_p.A1215A|CACNA1G_uc002irp.1_Silent_p.A1238A|CACNA1G_uc002irq.1_Silent_p.A1215A|CACNA1G_uc002irr.1_Silent_p.A1238A|CACNA1G_uc002irs.1_Silent_p.A1238A|CACNA1G_uc002irt.1_Silent_p.A1238A|CACNA1G_uc002iru.1_Silent_p.A1215A|CACNA1G_uc002irv.1_Silent_p.A1238A|CACNA1G_uc002irw.1_Silent_p.A1215A|CACNA1G_uc002irx.1_Silent_p.A1151A|CACNA1G_uc002iry.1_Silent_p.A1151A|CACNA1G_uc002isg.1_Silent_p.A1151A|CACNA1G_uc002ish.1_Silent_p.A1151A|CACNA1G_uc002isi.1_Silent_p.A1128A|CACNA1G_uc002irz.1_Silent_p.A1151A|CACNA1G_uc002isa.1_Silent_p.A1151A|CACNA1G_uc002isd.1_Silent_p.A1151A|CACNA1G_uc002isb.1_Silent_p.A1151A|CACNA1G_uc002isc.1_Silent_p.A1151A|CACNA1G_uc002ise.1_Silent_p.A1151A|CACNA1G_uc002isf.1_Silent_p.A1151A|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1238					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGTCCGCGCGTGGATCCGAG	0.632000													30	47					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122274491	122274491	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:122274491C>T	uc010hri.3	-	3	777	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PARP9_uc003eff.4_Missense_Mutation_p.G176E|PARP9_uc011bjs.2_Missense_Mutation_p.G176E|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.G176E|PARP9_uc003efh.3_Missense_Mutation_p.G211E|PARP9_uc003efj.2_Missense_Mutation_p.G176E	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	211	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTGCAGCTTTCCAGTACATCC	0.463000													7	35					0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439722	52439722	+	RNA	SNP	T	T	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:52439722T>C	uc010tgr.1	-	0		c.498A>G			CCDC70_uc001vfu.4_Missense_Mutation_p.W70R|CCDC70_uc021rjv.1_Missense_Mutation_p.W70R			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGAAGAGATGTGGACTTTCCG	0.468000													32	52					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152410424	152410424	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:152410424C>T	uc021vrb.1	-	96	14470	c.14441G>A	c.(14440-14442)cGc>cAc	p.R4814H	NEB_uc002txr.3_Missense_Mutation_p.R1280H|NEB_uc002txu.3_Missense_Mutation_p.R6515H|NEB_uc021vrc.1_Missense_Mutation_p.R6515H|NEB_uc010fnx.3_Missense_Mutation_p.R4802H|NEB_uc021vrd.1_Missense_Mutation_p.R4814H	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4814					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGGCGCAGGCGGTAATCAAT	0.468000													36	48					0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51737623	51737623	+	Silent	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr12:51737623G>A	uc001ryi.1	-	2	155	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	38	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CTCCAGACCGGTACTGGAGGG	0.502000													4	8					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123049810	123049810	+	Silent	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:123049810C>T	uc003egh.2	-	4	1572	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S	ADCY5_uc021xdd.1_Silent_p.S174S|ADCY5_uc003egg.2_Silent_p.S157S|ADCY5_uc003egi.1_Silent_p.S83S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	524	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAGGCAGCCCCGAGACGCAGT	0.478000													8	37					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336228	141336228	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:141336228G>C	uc003llx.3	-	0	2400	c.1189C>G	c.(1189-1191)Ctg>Gtg	p.L397V		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	397	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGGCCCAGCTCTTGGCTC	0.488000													5	96					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5363890	5363890	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr7:5363890C>T	uc003soi.4	-	20	6746	c.6397G>A	c.(6397-6399)Gag>Aag	p.E2133K		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2133							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCAGGTGCTCGTCCTCAGAG	0.682000													5	25					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701886	30701886	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr8:30701886C>T	uc003xil.3	-	0	4648	c.4648G>A	c.(4648-4650)Gac>Aac	p.D1550N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1550										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GACTGCGAGTCTTTACTAACT	0.388000													38	70					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533298	47533298	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:47533298T>C	uc001cqu.1	+	0	139	c.136T>C	c.(136-138)Ttt>Ctt	p.F46L		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	46						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGCACCTGTTTCCTGCACC	0.498000													31	43					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:129155916G>A	uc003emh.1	-	2	747	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_uc003emi.1_Missense_Mutation_p.P191S|MBD4_uc003emj.1_Missense_Mutation_p.P191S|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.P191S	NM_003925	NP_003916	O95243	MBD4_HUMAN	Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA.	191					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443000								Base excision repair (BER), DNA glycosylases					9	535					0	0	1	0	0
RGMB	285704	broad.mit.edu	37	5	98115306	98115306	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:98115306A>C	uc003knc.3	+	3	684	c.282A>C	c.(280-282)caA>caC	p.Q94H	RGMB_uc003knb.2_Missense_Mutation_p.Q94H	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	53					BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent	ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AGCCAGCCCAATGTCGAATCC	0.468000													88	108					0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234801	44234801	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr22:44234801T>A	uc003bee.1	-	3	570	c.454A>T	c.(454-456)Atg>Ttg	p.M152L	SULT4A1_uc003bed.1_Missense_Mutation_p.M73L|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	152					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGGTAGCTCATGGTCCGCAGA	0.532000													25	48					0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99127163	99127163	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:99127163G>T	uc001vnm.1	-	4	780	c.545C>A	c.(544-546)aCa>aAa	p.T182K	STK24_uc001vnn.1_Missense_Mutation_p.T170K|STK24_uc010tim.1_Missense_Mutation_p.T151K	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	182	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTGGGTGTCTGTCAGCTGGCC	0.612000													13	33					0	0	1	0	0
GPBAR1	151306	broad.mit.edu	37	2	219127538	219127538	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:219127538G>A	uc021vwu.1	+	0	91	c.91G>A	c.(91-93)Gcg>Acg	p.A31T	GPBAR1_uc010zjx.1_Missense_Mutation_p.A31T|GPBAR1_uc010zjw.1_Missense_Mutation_p.A31T|GPBAR1_uc010zjy.1_Missense_Mutation_p.A31T	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN	Homo sapiens G protein-coupled bile acid receptor 1 (GPBAR1), transcript variant 3, mRNA.	31						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCATCACCGCGAACCTGCT	0.672000													11	19					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874771	80874771	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:80874771C>T	uc010ysh.2	+	17	2641	c.2636C>T	c.(2635-2637)aCg>aTg	p.T879M	CTNNA2_uc010yse.2_Missense_Mutation_p.T831M|CTNNA2_uc010ysf.2_Missense_Mutation_p.T831M|CTNNA2_uc010ysg.2_Missense_Mutation_p.T786M|CTNNA2_uc010ysi.2_Missense_Mutation_p.T463M|CTNNA2_uc010ysj.2_Missense_Mutation_p.T160M	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	879					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTTGTCCTCACGGTGAAAGCA	0.478000													44	65					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043658	25043658	+	Silent	SNP	C	C	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr14:25043658C>A	uc001wpq.3	-	3	424	c.387G>T	c.(385-387)ctG>ctT	p.L129L		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	129	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GGGCTCTAGGCAGAGCCACTG	0.627000													21	107					0	0	1	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:32670247_32670248delTG	uc021okt.1	+	4	706_707	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0								p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													7	307	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880744	137880746	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:137880744_137880746delTCA	uc003erv.3	-	7	1774_1776	c.1620_1622delTGA	c.(1618-1623)gatgac>gac	p.540_541DD>D	DBR1_uc003eru.3_In_Frame_Del_p.489_490DD>D|DBR1_uc003ert.3_In_Frame_Del_p.308_309DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	540						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTGCATCGTCATCATCATCAT	0.399													7	475	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89692959	89692960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:89692959_89692960insA	uc001kfb.3	+	4	1475_1476	c.443_444insA	c.(442-444)gcafs	p.A148fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	148	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A148T(2)|p.K147fs*5(2)|p.Y27fs*1(2)|p.A148E(2)|p.Y27_N212>Y(2)|p.K147*(1)|p.K147R(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTTAAAGGCACAAGAGGCCC	0.381		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			40	24	---	---	---	---					
POLR3B	55703	broad.mit.edu	37	12	106820973	106820973	+	Splice_Site	DEL	A	A	-			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr12:106820973delA	uc001tlp.3	+	13	1324	c.1102_splice	c.e13-2	p.L368_splice	POLR3B_uc001tlq.3_Splice_Site_p.L310_splice	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTTTAGCTTTTATCT	0.269													2	4	---	---	---	---					
HTR2A	3356	broad.mit.edu	37	13	47409098	47409099	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:47409098_47409099insT	uc010acr.3	-	3	1978_1979	c.1289_1290insA	c.(1288-1290)aagfs	p.K430fs	HTR2A_uc001vbr.3_Frame_Shift_Ins_p.K346fs	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	430					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCTTTGAATTCTTTTTTTGTCC	0.401													45	43	---	---	---	---					
