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
GRIN2B	2904	broad.mit.edu	37	12	13716879	13716879	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr12:13716879G>A	ENST00000279593.3	-	13	3502	c.3293C>T	c.(3292-3294)tCc>tTc	p.S1098F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1098					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCCTGCGGGACTTGGCCGA	0.622000													13	38					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71671926	71671926	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:71671926C>T	ENST00000361756.3	+	3	593	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000393713.3_Missense_Mutation_p.R46C|RNF121_ENST00000533380.1_Missense_Mutation_p.R46C|RNF121_ENST00000530137.1_Missense_Mutation_p.R46C	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	78						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GAGGCACCCACGCTCCTACAA	0.537000													18	29					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55994210	55994210	+	Silent	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:55994210G>A	ENST00000391718.2	+	3	2203	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	ZNF628_ENST00000598519.1_Silent_p.T550T			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	546						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCCGCAACACGTCGTGCCTGC	0.682000													9	16					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12111037	12111037	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr10:12111037C>T	ENST00000263035.4	+	1	67	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	2					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTGAACATGGCCTCTGCTACT	0.697000													11	11					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608013	608013	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:608013G>A	ENST00000264555.5	+	14	2685	c.2557G>A	c.(2557-2559)Ggc>Agc	p.G853S	PHRF1_ENST00000416188.2_Missense_Mutation_p.G852S|PHRF1_ENST00000413872.2_Missense_Mutation_p.G851S|PHRF1_ENST00000533464.1_Missense_Mutation_p.G849S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	853							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTCTGGCCCCGGCCTCCTGCC	0.667000													49	64					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													5	22					0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460275	32460275	+	Silent	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr15:32460275G>A	ENST00000306901.3	+	10	1222	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	CHRNA7_ENST00000455693.2_Silent_p.A194A|CHRNA7_ENST00000454250.3_Silent_p.A404A	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	375				A -> G (in Ref. 1; CAA49778).	activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GCGCCGTGGCGCCGCCGCCCG	0.706000													24	61					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67270959	67270959	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr16:67270959C>T	ENST00000258201.4	-	10	1299	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	351	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCGTCGTTCCCGCCGCCCACC	0.617000													46	64					0	0	1	0	0
SLC35E1	79939	broad.mit.edu	37	19	16664638	16664638	+	Missense_Mutation	SNP	C	C	T	rs147619010		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:16664638C>T	ENST00000595753.1	-	6	1102	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	362					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						CAGTGGGCTCCGGTGACGCTC	0.587000													23	45					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736000													5	24					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21135236	21135236	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:21135236C>T	ENST00000298925.5	+	14	1639	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	NELL1_ENST00000532434.1_Missense_Mutation_p.R468C|NELL1_ENST00000325319.5_Missense_Mutation_p.R411C|NELL1_ENST00000357134.5_Missense_Mutation_p.R468C			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	468	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGGATACATTCGTGTGGATGA	0.403000													16	49					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16376374	16376374	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:16376374A>T	ENST00000375679.4	+	10	1042	c.931A>T	c.(931-933)Agg>Tgg	p.R311W	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R142W	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTTCATCAGGAACAATAG	0.607000													38	79					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39869739	39869739	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:39869739C>T	ENST00000538976.1	+	25	3312	c.3130C>T	c.(3130-3132)Cgc>Tgc	p.R1044C	DAAM2_ENST00000274867.4_Missense_Mutation_p.R1045C|DAAM2_ENST00000398904.2_Missense_Mutation_p.R1045C	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1045	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAAGCTCAAGCGCAGCCGCAA	0.612000													21	26					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95159250	95159250	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr10:95159250C>T	ENST00000371501.4	-	13	1242	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	MYOF_ENST00000371489.1_Missense_Mutation_p.D374N|MYOF_ENST00000359263.4_Missense_Mutation_p.D374N|MYOF_ENST00000358334.5_Missense_Mutation_p.D374N|MYOF_ENST00000371502.4_Missense_Mutation_p.D374N			Q9NZM1	MYOF_HUMAN	myoferlin	374	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGGCATCATCCACTGGAAGG	0.338000													4	8					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126784895	126784895	+	Silent	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr5:126784895C>T	ENST00000274473.6	+	23	3228	c.2961C>T	c.(2959-2961)ggC>ggT	p.G987G	MEGF10_ENST00000503335.2_Silent_p.G987G|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	987	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGAAACATGGCGGCTACCTCA	0.527000													10	76					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95858797	95858797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr13:95858797G>A	ENST00000376887.4	-	8	1264	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	ABCC4_ENST00000536256.1_Nonsense_Mutation_p.R309*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.R384*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.R384*|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	384					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGGATTCTTCGGATGCTGACG	0.483000													10	33					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	13					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157142	22157142	+	Missense_Mutation	SNP	T	T	G	rs61748347		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:22157142T>G	ENST00000397126.4	-	4	842	c.694A>C	c.(694-696)Aaa>Caa	p.K232Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTTACATCTGTAG	0.383000													15	24					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55223567	55223567	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr7:55223567G>T	ENST00000275493.2	+	8	1111	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	312					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCGAGCCTGTGGGGCCGACAG	0.607000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			65	61					7.73544e-29	8.5497e-29	1	1	0
FAN1	22909	broad.mit.edu	37	15	31197979	31197979	+	Silent	SNP	T	T	C			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr15:31197979T>C	ENST00000362065.4	+	2	1404	c.1113T>C	c.(1111-1113)ggT>ggC	p.G371G	FAN1_ENST00000561607.1_Silent_p.G371G|FAN1_ENST00000565466.1_Silent_p.G371G|FAN1_ENST00000561594.1_Silent_p.G371G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	371					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AAACAACCGGTCATCCTTACT	0.463000								Direct reversal of damage					8	86					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16216929	16216929	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr3:16216929C>T	ENST00000339732.5	+	1	774	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.R91W	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TATCTCACTGCGGGAGGATCA	0.617000													14	23					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1025072	1025072	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:1025072G>T	ENST00000421673.2	-	24	3047	c.2997C>A	c.(2995-2997)tgC>tgA	p.C999*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	999	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACACAAGCCGCAGAGGGGAT	0.647000													14	24					3.27435e-08	3.52623e-08	1	1	0
ALKBH1	8846	broad.mit.edu	37	14	78174327	78174327	+	Silent	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr14:78174327G>A	ENST00000216489.3	-	1	36	c.21C>T	c.(19-21)gcC>gcT	p.A7A		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	7					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CAGAGCCCACGGCCGCTGCCA	0.637000													23	28					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66266980	66266980	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:66266980C>T	ENST00000327268.4	-	6	1485	c.1321_splice	c.e6+1	p.G441_splice	SLC16A6_ENST00000580666.1_Splice_Site_p.G441_splice|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	441						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TTTAAATTACCTGCAAGGGGC	0.433000													8	16					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891983	5891983	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr18:5891983C>T	ENST00000581347.1	-	3	725	c.80G>A	c.(79-81)cGc>cAc	p.R27H	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R27H			A6NKL6	T200C_HUMAN	transmembrane protein 200C	27						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TTTCCGCTTGCGCTTGGGTAT	0.612000													15	17					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55214348	55214348	+	Silent	SNP	C	C	T	rs2072454	byFrequency	TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr7:55214348C>T	ENST00000275493.2	+	4	651	c.474C>T	c.(472-474)aaC>aaT	p.N158N	EGFR_ENST00000442591.1_Silent_p.N158N|EGFR_ENST00000342916.3_Silent_p.N158N|EGFR_ENST00000454757.2_Silent_p.N105N|EGFR_ENST00000420316.2_Silent_p.N158N|EGFR_ENST00000344576.2_Silent_p.N158N|EGFR_ENST00000455089.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	158					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.N158N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCCTGTGCAACGTGGAGAGCA	0.547000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			71	53					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49167879	49167879	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:49167879C>A	ENST00000270235.4	-	3	872	c.777G>T	c.(775-777)tgG>tgT	p.W259C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	259	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TAGGGTCCCTCCAGAACCCAG	0.667000													3	25					0.004672	0.00478595	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7412414	7412414	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:7412414G>A	ENST00000322644.6	+	21	4016	c.3617G>A	c.(3616-3618)cGa>cAa	p.R1206Q		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1206					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GATGTGGCCCGAATCTCCCCC	0.537000													3	24					0	0	1	0	0
C1orf50	79078	broad.mit.edu	37	1	43233015	43233015	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:43233015delG	ENST00000372525.5	+	1	76	c.33delG	c.(31-33)gafs	p.E11fs	C1orf50_ENST00000536543.1_5'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	11										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGGACCGAGGGGGTCCTTG	0.701													2	4	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216420426	216420426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:216420426delT	ENST00000366943.2	-	13	2696	c.2310delA	c.(2308-2310)aafs	p.K770fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.K770fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.K770fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	770	Laminin EGF-like 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTGGCTTCTTTTTTGCACT	0.473										HNSCC(13;0.011)			22	66	---	---	---	---					
AC022596.6	0	broad.mit.edu	37	17	16725606	16725607	+	RNA	INS	-	-	C			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:16725606_16725607insC	ENST00000417510.1	-	0	286_287																											CGCCATAGCCGCCCCCCAGCCT	0.668													4	5	---	---	---	---					
CHD6	0	broad.mit.edu	37	20	40141606	40141607	+	In_Frame_Ins	INS	-	-	GCTTTA			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr20:40141606_40141607insGCTTTA	ENST00000373233.3	-	5	907_908	c.730_731insTAAAGC	c.(730-732)cag>TAAAGCcag	p.243_244ins*S	CHD6_ENST00000373222.3_In_Frame_Ins_p.278_279ins*S|CHD6_ENST00000309279.7_In_Frame_Ins_p.243_244ins*S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	243					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTATTTTCTGCGCTTTACTTGC	0.490													57	243	---	---	---	---