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
DNAH2	146754	broad.mit.edu	37	17	7690227	7690227	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:7690227A>T	uc002giu.1	+	40	6493	c.6479A>T	c.(6478-6480)gAc>gTc	p.D2160V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2160	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D2160V(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGAAACCCGACGAGAAGTGG	0.567000													11	45					0	0	1	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938316	30938316	+	Splice_Site	SNP	G	G	A	rs112615235	by1000genomes	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:30938316G>A	uc010azv.1	+	11		c.1127_splice	c.e11-1		ARHGAP11B_uc001zeu.3_Splice_Site|LOC100288637_uc001zev.3_5'Flank			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TTCCTTGGCAGTGGATAAGTT	0.393000													5	26					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65315007	65315007	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:65315007G>A	uc001oej.3	-	13	2279	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	LTBP3_uc001oef.3_5'Flank|LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Silent_p.C100C|LTBP3_uc010roi.2_Silent_p.C553C|LTBP3_uc001oei.3_Silent_p.C670C|LTBP3_uc010roj.2_Silent_p.C371C|LTBP3_uc010rok.1_Silent_p.C581C	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	670	Cys-rich.|EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding	p.C670C(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGCCGTCGCCGCACAGGTGGG	0.657000													5	118					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952162	196952162	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:196952162G>A	uc001gts.4	+	1	334	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	69	Sushi 1.				complement activation, alternative pathway	extracellular region		p.R69H(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGGACTCGCATAACATGC	0.393000													10	57					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355525	10355525	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:10355525G>A	uc002gmn.3	-	26	3582	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1157					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1157A(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCCCACCGGCTTCTTCCA	0.607000													34	125					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166935656	166935656	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:166935656G>A	uc003irh.2	+	7	1633	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	TLL1_uc021xud.1_Missense_Mutation_p.R329Q|TLL1_uc011cjn.2_Missense_Mutation_p.R329Q|TLL1_uc011cjo.2_Missense_Mutation_p.R153Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	329	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R329Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGGTCAGCGAACCCGTCTA	0.458000													11	247					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149885276	149885276	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:149885276G>A	uc001etg.3	-	1	608	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_uc001eth.2_Silent_p.D39D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	39	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D39D(4)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAATATTCGTCCTGGACTC	0.542000													19	94					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105571030	105571030	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr12:105571030G>A	uc010swu.1	-	17	1881	c.1663C>T	c.(1663-1665)Cca>Tca	p.P555S	APPL2_uc010swt.2_Missense_Mutation_p.P506S|APPL2_uc001tlf.1_Missense_Mutation_p.P549S|APPL2_uc001tlg.1_Missense_Mutation_p.P303S|APPL2_uc009zuq.3_Missense_Mutation_p.P506S	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	549	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	p.P549S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGAGTCTGTGGATCTATCAAC	0.328000													7	52					0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949662	61949662	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949662G>C	uc002jch.3	-	4	593	c.478C>G	c.(478-480)Cgg>Ggg	p.R160G	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Missense_Mutation_p.R65G	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	160					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.R160G(1)		endometrium(2)|large_intestine(1)|lung(3)	6						TGCCCAGTCCGGCGGCTGCCG	0.547000													28	124					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54966502	54966502	+	Silent	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr16:54966502A>G	uc002ehv.3	+	1	342	c.342A>G	c.(340-342)ccA>ccG	p.P114P	IRX5_uc010cca.1_Silent_p.P166P|IRX5_uc021tin.1_Silent_p.P114P|IRX5_uc002ehw.3_Silent_p.P48P	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	114					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	p.P114P(2)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACGGGGACCCAGCGTACCGGA	0.657000													17	81					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956721	57956721	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:57956721A>C	uc002qoq.2	+	2	2459	c.2205A>C	c.(2203-2205)aaA>aaC	p.K735N		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K735N(2)|p.K648N(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ACTTCAACAAATGTAATACTG	0.398000													18	89					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701517	139701517	+	Splice_Site	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr9:139701517C>A	uc004cjf.3	+	13	1546	c.1486_splice	c.e13+1	p.D496_splice	C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.3_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|LOC100131193_uc004cjg.1_Non-coding_Transcript	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	Homo sapiens KIAA1984 (KIAA1984), mRNA.	496								p.I495I(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGGATATGATCGGTACAGGCC	0.642000													3	43					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115750976	115750976	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:115750976T>A	uc003ibu.3	-	12	3148	c.2469A>T	c.(2467-2469)aaA>aaT	p.K823N	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	823	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.K823N(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTTCGGCCTTTGCTTTTTC	0.333000													10	50					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	14	36841080	36841080	+	Silent	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr14:36841080C>A	uc001wtp.3	+	0	711	c.462C>A	c.(460-462)acC>acA	p.T154T		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	154						cytoplasm|nucleus		p.T154T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		ATCAAGACACCAAGCCACTTC	0.378000													9	95					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167142945	167142945	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:167142945C>T	uc010fpl.3	-	10	1844	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.S372S|SCN9A_uc002uds.1_Silent_p.S372S|SCN9A_uc002udt.1_Silent_p.S372S	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	501				S -> P (in Ref. 3; AAT85835).		voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S501S(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTCTGATTTCGACAATTTCT	0.428000													7	194					0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949663	61949663	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949663G>A	uc002jch.3	-	4	592	c.477C>T	c.(475-477)cgC>cgT	p.R159R	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Silent_p.R64R	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	159					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.R159R(1)		endometrium(2)|large_intestine(1)|lung(3)	6						GCCCAGTCCGGCGGCTGCCGT	0.547000													27	119					0	0	1	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488000													3	55					0	0	1	0	0
HAAO	23498	broad.mit.edu	37	2	43015711	43015711	+	Silent	SNP	G	G	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:43015711G>T	uc002rst.4	-	1	192	c.117C>A	c.(115-117)ggC>ggA	p.G39G	HAAO_uc010ynw.1_Silent_p.G39G	NM_012205	NP_036337	P46952	3HAO_HUMAN	Homo sapiens 3-hydroxyanthranilate 3,4-dioxygenase (HAAO), mRNA.	39	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	p.G39G(2)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						TGGTGTTGGGGCCTCCGATGA	0.572000													6	66					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43267420	43267420	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr22:43267420G>A	uc010gzg.3	-	10	1626	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	PACSIN2_uc003bdg.4_Silent_p.R468R|PACSIN2_uc003bdf.4_Silent_p.R427R	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA.	468	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	p.R468R(2)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGTTGTCCAAGCGTCCCTTGC	0.622000													10	45					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630484	51630484	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:51630484G>C	uc010yct.2	+	3	1041	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SIGLEC9_uc002pvu.3_Missense_Mutation_p.A316P	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	316	Ig-like C2-type 2.		A -> D (in dbSNP:rs273688).		cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.A316P(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAGGGATGCAGCTGAATTCAC	0.632000													8	45					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881921	15881921	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:15881921G>A	uc010xor.1	-	3	476	c.456C>T	c.(454-456)caC>caT	p.H152H	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.									p.H152H(2)									CTGTGAAGTCGTGCACCAGGC	0.522000													10	49					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974277	16974277	+	RNA	SNP	A	A	C	rs151151026	by1000genomes	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:16974277A>C	uc009vow.2	+	4		c.1087A>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCATCTAAGGGTCCGAGG	0.657000													10	42					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29099853	29099853	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr18:29099853G>A	uc002kwu.4	+	2	357	c.169G>A	c.(169-171)Gct>Act	p.A57T		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	57	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A57T(2)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGCCCCCGTGGCTCTTCGGGA	0.453000													15	70					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690474	77690474	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:77690474C>T	uc003yau.2	+	3	3511	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P1016S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042S(3)|p.P1042P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCAGTGAATCCCGAATCCTG	0.483000										HNSCC(33;0.089)			25	99					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7728622	7728622	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:7728622G>A	uc003gkb.4	+	20	2861	c.2861G>A	c.(2860-2862)cGt>cAt	p.R954H	SORCS2_uc011bwi.2_Missense_Mutation_p.R782H	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	954						integral to membrane	neuropeptide receptor activity	p.R804H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGGTCCTCCGTGTGCTGGGT	0.617000													4	47					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146017843	146017843	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr5:146017843G>A	uc011dbv.2	-	7	1198	c.935C>T	c.(934-936)gCa>gTa	p.A312V	PPP2R2B_uc010jgm.3_Missense_Mutation_p.A243V|PPP2R2B_uc003loe.3_Missense_Mutation_p.A254V|PPP2R2B_uc003log.4_Missense_Mutation_p.A254V|PPP2R2B_uc003lof.4_Missense_Mutation_p.A254V|PPP2R2B_uc003loi.4_Missense_Mutation_p.A257V|PPP2R2B_uc003loh.4_Missense_Mutation_p.A254V|PPP2R2B_uc003lok.4_Missense_Mutation_p.A243V|PPP2R2B_uc003loj.4_Missense_Mutation_p.A234V|PPP2R2B_uc011dbu.2_Missense_Mutation_p.A260V	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	254					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.A257V(1)|p.A312V(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCAGATGCCCGCATGTC	0.597000													8	68					0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63632619	63632619	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:63632619G>A	uc002amc.3	-	6	771	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CA12_uc002amd.3_Silent_p.F205F|CA12_uc002ame.3_Silent_p.F145F	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	205					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	p.F205F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	CTTCAATGTTGAATCCCGGGA	0.562000													5	58					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32536160	32536160	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chrX:32536160C>T	uc004dda.1	-	17	2501	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	DMD_uc004dcz.2_Missense_Mutation_p.E630K|DMD_uc004dcy.1_Missense_Mutation_p.E749K|DMD_uc004ddb.1_Missense_Mutation_p.E745K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.E745K	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	753					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E749K(2)|p.E748K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTGCCTTCCTTCCGAAAG	0.383000													12	18					0	0	1	0	0
STAG3L2	442582	broad.mit.edu	37	7	74298939	74298939	+	RNA	SNP	G	G	C	rs142156061	by1000genomes	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:74298939G>C	uc011kfj.2	-	7		c.1037C>G						P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.							nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TTTCCCCCACGCCATGCCACC	0.537000													2	17					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25166414	25166414	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:25166414G>A	uc003xeg.3	+	11	1302	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.A103T|DOCK5_uc003xei.3_5'Flank	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	389						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.A389T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGTGATTGCAGCAAAGGAAGT	0.522000													3	41					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89391103	89391103	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:89391103C>A	uc003dqy.3	+	4	1394	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	EPHA3_uc003dqx.1_Missense_Mutation_p.T390N|EPHA3_uc021xbf.1_Missense_Mutation_p.T390N	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	390	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.T390N(3)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTGGACTCACCAACACCACG	0.478000										TSP Lung(6;0.00050)			4	71					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333173	42333173	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:42333173G>A	uc002igf.4	-	13	1817	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	556	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.N556N(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCAACACGTTGTAGTTAT	0.532000													25	131					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33602330	33602330	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:33602330G>C	uc021wvc.1	-	27	3135	c.2924C>G	c.(2923-2925)gCa>gGa	p.A975G	CLASP2_uc003cfs.3_Missense_Mutation_p.A174G|CLASP2_uc021wva.1_Missense_Mutation_p.A49G|CLASP2_uc021wvb.1_Missense_Mutation_p.A754G|CLASP2_uc011axt.1_Missense_Mutation_p.A567G	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	976								p.A967G(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGAACTTTTGCCTGAACAGA	0.338000													31	177					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897858	175897858	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:175897858C>T	uc003iuc.3	+	4	1852	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ADAM29_uc003iud.3_Silent_p.I394I|ADAM29_uc010irr.3_Silent_p.I394I|ADAM29_uc011cki.2_Silent_p.I394I|ADAM29_uc021xuo.1_Silent_p.I394I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	394					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I394I(3)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAAAGGACATCTTTAATGTGA	0.393000													28	129					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168297653	168297653	+	Splice_Site	SNP	G	G	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:168297653G>T	uc021zik.1	+	10	1513	c.1194_splice	c.e10+1	p.Q398_splice	MLLT4_uc003qwb.1_Splice_Site_p.Q423_splice|MLLT4_uc003qwc.2_Splice_Site_p.Q439_splice|MLLT4_uc021zij.1_Splice_Site_p.Q423_splice|MLLT4_uc003qwf.3_Splice_Site_p.Q124_splice|MLLT4_uc021zim.1_Splice_Site	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	439					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.?(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCTATCCAGGTACGTAGTCT	0.433000			T	MLL	AL								5	22					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28386775	28386775	+	Splice_Site	SNP	G	G	A	rs149707599	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:28386775G>A	uc001zbj.3	-	78	11923	c.11817_splice	c.e78-1	p.R3939_splice		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3939					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3940*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCTGGTCGCCTACAATAC	0.478000													29	119					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664547	151664547	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664547G>C	uc003wkp.3	+	1	486	c.216G>C	c.(214-216)agG>agC	p.R72S	GALNTL5_uc010lqf.3_5'UTR|GALNTL5_uc003wkq.3_5'UTR|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	72						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R72S(2)|p.R72K(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TAGTCAAAAGGACTGATGAAG	0.373000													4	39					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762197	130762197	+	Silent	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:130762197C>A	uc003qcb.3	+	1	3008	c.630C>A	c.(628-630)atC>atA	p.I210I	TMEM200A_uc003qca.3_Silent_p.I210I|TMEM200A_uc010kfh.3_Silent_p.I210I|TMEM200A_uc010kfi.3_Silent_p.I210I|TMEM200A_uc021zfg.1_Silent_p.I210I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	210						integral to membrane		p.I210I(3)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAAATACGATCGCCTCTTTCT	0.468000													3	38					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26575384	26575384	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr10:26575384C>T	uc001isp.2	+	12	1850	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	GAD2_uc001isq.2_Silent_p.H449H	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	449					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.H449H(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GCGGACGCCACGTTGATGTTT	0.443000													9	61					0	0	1	0	0
SLC37A4	2542	broad.mit.edu	37	11	118900037	118900037	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:118900037A>C	uc010ryr.1	-	2	484	c.43T>G	c.(43-45)Tca>Gca	p.S15A	SLC37A4_uc009zan.2_Non-coding_Transcript|SLC37A4_uc010rys.1_Missense_Mutation_p.S15A|SLC37A4_uc010ryt.1_Intron|SLC37A4_uc001pus.2_Missense_Mutation_p.S15A	NM_001164278	NP_001157750	O43826	G6PT1_HUMAN	Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 2, mRNA.	15					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	p.S15A(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AACATGGCTGAGAAGATCACA	0.517000													4	24					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12058937	12058937	+	Splice_Site	SNP	T	T	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:12058937T>A	uc001atn.4	+	7	1161	c.708_splice	c.e7+2	p.T236_splice	MFN2_uc009vni.3_Splice_Site_p.T236_splice	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	236					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.?(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATGCAGACGGTAACTCCTCCT	0.577000													14	120					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022538	161022538	+	Silent	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:161022538T>C	uc001fxl.3	-	6	1060	c.714A>G	c.(712-714)tcA>tcG	p.S238S	ARHGAP30_uc001fxk.3_Silent_p.S238S|ARHGAP30_uc001fxm.3_Silent_p.S84S|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Silent_p.S84S	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	238					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S238S(3)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGGGGCTGCCTGATGCCCGGG	0.607000													3	63					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628435	46628435	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:46628435G>T	uc002inn.3	-	1	957	c.557C>A	c.(556-558)gCg>gAg	p.A186E	HOXB3_uc010wlm.2_Missense_Mutation_p.A113E|HOXB3_uc010dbf.3_Missense_Mutation_p.A186E|HOXB3_uc010dbg.3_Missense_Mutation_p.A186E|HOXB3_uc002ino.3_Missense_Mutation_p.A186E|HOXB3_uc010wlk.2_Missense_Mutation_p.A54E|HOXB3_uc010wll.2_Missense_Mutation_p.A113E	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	186					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A186E(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGGACGCCGCCGACCCCGG	0.751000													9	56					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:37324731C>T	uc001caz.2	-	6	1217	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_uc001cba.1_Missense_Mutation_p.R361H	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	361					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R361H(4)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTCATGAAGCGGCCGCCAAA	0.627000													20	88					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71329574	71329574	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:71329574A>G	uc010ukf.2	+	14	2081	c.1775A>G	c.(1774-1776)aAc>aGc	p.N592S	LRRC49_uc002asu.3_Missense_Mutation_p.N577S|LRRC49_uc002asx.3_Missense_Mutation_p.N543S|LRRC49_uc002asw.3_Missense_Mutation_p.N587S|LRRC49_uc002asy.3_Missense_Mutation_p.N293S|LRRC49_uc002asz.3_Missense_Mutation_p.N559S	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	587						cytoplasm|microtubule		p.N587S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GGTATTATCAACGAAGAAAAT	0.318000													4	114					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234018	21234018	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:21234018C>A	uc002red.3	-	25	5850	c.5722G>T	c.(5722-5724)Gat>Tat	p.D1908Y		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1908					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D1908Y(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTATGTGCATCGATGGTCATG	0.463000													7	124					0	0	1	0	0
JUND	3727	broad.mit.edu	37	19	18391297	18391297	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:18391297T>C	uc002nip.2	-	0	1136	c.998A>G	c.(997-999)aAc>aGc	p.N333S	MIR3188_uc021uqm.1_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	Homo sapiens jun D proto-oncogene (JUND), mRNA.	333					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.N289S(1)		lung(2)|prostate(1)	3						GCAGCCGCTGTTGACGTGGCT	0.706000													5	9					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58353011	58353011	+	Silent	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:58353011A>G	uc021vcp.1	+	2	1204	c.969A>G	c.(967-969)aaA>aaG	p.K323K	ZNF587_uc002qqb.2_Intron|ZNF587B_uc021vcn.1_Silent_p.K273K|ZNF587_uc002qqi.2_Intron|ZNF587_uc010yhh.2_Intron|ZNF587_uc021vco.1_Intron|ZNF587_uc002qqj.1_Intron	NM_001204818	NP_001191747	B4DR41	B4DR41_HUMAN	Homo sapiens zinc finger protein (LOC100293516), mRNA.	323					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.K323K(1)									ACGCTGGAAAAGGGCCTTATG	0.418000													2	6					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132641814	132641814	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:132641814A>G	uc003qdf.3	-	8	1418	c.1319T>C	c.(1318-1320)aTt>aCt	p.I440T	MOXD1_uc003qde.3_Missense_Mutation_p.I372T	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	440					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.I440T(2)|p.I372T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACACTCAGTAATTAGGTTATC	0.308000													6	24					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57598857	57598857	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr20:57598857G>C	uc002yak.3	+	3	644	c.375G>C	c.(373-375)gaG>gaC	p.E125D		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	125					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	p.E125D(3)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	ACGAGAGTGAGAGCTGTGACT	0.602000													19	108					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255226	51255226	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:51255226G>A	uc021vhh.1	-	0	1107	c.186C>T	c.(184-186)agC>agT	p.S62S	NRXN1_uc021vhg.1_Silent_p.S62S|NRXN1_uc021vhi.1_Silent_p.S62S|NRXN1_uc021vhj.1_Silent_p.S62S|NRXN1_uc021vhk.1_Silent_p.S62S	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	62	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.S62S(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCCGCGGGCGCTGCGAGTCT	0.662000													4	10					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262810	167262810	+	Silent	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:167262810A>T	uc002udu.2	-	24	4459	c.4329T>A	c.(4327-4329)atT>atA	p.I1443I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1443					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I1443I(4)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TACTGTTGAAAATTGCATCAA	0.383000													32	132					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507397	74507397	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:74507397C>A	uc001dfy.4	-	6	1410	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	406								p.E406D(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTGCAAAAAACTCTTTCATAC	0.343000													15	74					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664546	151664546	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664546G>A	uc003wkp.3	+	1	485	c.215G>A	c.(214-216)aGg>aAg	p.R72K	GALNTL5_uc010lqf.3_5'UTR|GALNTL5_uc003wkq.3_5'UTR|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	72						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R72K(2)|p.R72S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATAGTCAAAAGGACTGATGAA	0.373000													4	41					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086262	175086262	+	Silent	SNP	G	G	A	rs138969989	by1000genomes	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:175086262G>A	uc001gkl.1	+	9	2420	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	769	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P769P(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTGAGGCCGGGTGTGGAGT	0.617000													19	101					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155099377	155099377	+	Frame_Shift_Del	DEL	A	-	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:155099377delA	uc002tyt.4	+	3	749	c.645delA	c.(643-645)ttafs	p.L215fs	GALNT13_uc002tyr.4_Frame_Shift_Del_p.L215fs|GALNT13_uc010foc.1_Frame_Shift_Del_p.L34fs|GALNT13_uc010fod.3_5'Flank	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	215	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T214T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AATGCACGTTAGGATGGCTGG	0.473													8	51	---	---	---	---					
TMPRSS11D	9407	broad.mit.edu	37	4	68719842	68719845	+	Frame_Shift_Del	DEL	ACTG	-	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:68719842_68719845delACTG	uc003hdq.3	-	2	255_258	c.190_193delCAGT	c.(190-195)cagttafs	p.Q64fs	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_5'UTR	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	64	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.Q64*(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGAATTTAACTGACTATTATAT	0.304													7	119	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	-	-	rs66529359	by1000genomes	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	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													5	2	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56060635	56060635	+	Frame_Shift_Del	DEL	T	-	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:56060635delT	uc002ivf.1	-	1	296	c.153delA	c.(151-153)aaafs	p.K51fs	VEZF1_uc010dcn.1_5'UTR	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	51					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CACCCTGAGGTTTCTGAGTTA	0.473													7	212	---	---	---	---					
ZNF333	84449	broad.mit.edu	37	19	14829233	14829251	+	Frame_Shift_Del	DEL	CCTATGCATGTAACAAATG	-	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG	uc002mzn.3	+	11	1228_1246	c.1094_1112delCCTATGCATGTAACAAATG	c.(1093-1113)tcctatgcatgtaacaaatgtfs	p.S365fs	ZNF333_uc002mzk.4_Frame_Shift_Del_p.S256fs	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGGGATAAATCCTATGCATGTAACAAATGTGAAAAATCC	0.438													8	67	---	---	---	---					
HNRNPL	3191	broad.mit.edu	37	19	39330958	39330959	+	Frame_Shift_Ins	INS	-	G	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:39330958_39330959insG	uc021uuh.1	-	7	1021_1022	c.1010_1011insC	c.(1009-1011)ccafs	p.P337fs	HNRNPL_uc002ojj.1_5'UTR|HNRNPL_uc010ege.1_5'UTR|HNRNPL_uc002ojk.3_5'UTR|HNRNPL_uc002ojl.3_5'UTR|HNRNPL_uc021uui.1_Frame_Shift_Ins_p.P204fs|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojp.1_5'UTR|HNRNPL_uc010xun.2_Frame_Shift_Ins_p.H45fs	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	337	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGTAGTGAGGTGGGGGGGGCCC	0.668													8	30	---	---	---	---					
GAGE2B	645037	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	TAT	TAT			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													7	18	---	---	---	---					
