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	ENST00000572933.1	+	42	7939	c.6479A>T	c.(6478-6480)gAc>gTc	p.D2160V	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	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(1)		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	0.105934	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	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.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	69					0	0	0.014758	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	ENST00000521891.2	+	4	3572	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S|ZFHX4_ENST00000517683.1_3'UTR	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042S(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	0.091800	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	ENST00000367414.5	+	2	334	c.278G>A	c.(277-279)cGc>cAc	p.R93H	CFHR5_ENST00000256785.4_Missense_Mutation_p.R69H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	69	Sushi 2.				complement activation, alternative pathway	extracellular region		p.R69H(1)		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	0.058154	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	ENST00000255381.2	-	27	3581	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1157					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1157A(1)		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	0.064281	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	ENST00000061240.2	+	8	1633	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	TLL1_ENST00000513213.1_Missense_Mutation_p.R329Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R329Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	329	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R329Q(1)		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	0.069234	0	0
SV2A	0	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	ENST00000369146.3	-	2	607	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_ENST00000369145.1_Silent_p.D39D	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	39	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D39D(2)		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	0.043863	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	ENST00000258530.3	-	18	1870	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	APPL2_ENST00000551662.1_Missense_Mutation_p.P555S|APPL2_ENST00000539978.2_Missense_Mutation_p.P506S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	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	0.047766	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	ENST00000392886.2	-	5	629	c.478C>G	c.(478-480)Cgg>Ggg	p.R160G	CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	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	0.041601	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	ENST00000394636.4	+	2	679	c.342A>G	c.(340-342)ccA>ccG	p.P114P	IRX5_ENST00000558597.1_Silent_p.P48P|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Silent_p.P114P			P78411	IRX5_HUMAN	iroquois homeobox 5	114					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	p.P114P(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACGGGGACCCAGCGTACCGGA	0.657000													17	81					0	0	0.033300	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	ENST00000334181.4	+	3	2455	c.2205A>C	c.(2203-2205)aaA>aaC	p.K735N	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K735N(1)|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	0.049695	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	ENST00000338005.6	+	13	1520	c.1486_splice	c.e13+1	p.I495_splice	KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	495								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					0.004672	0.00535019	0.004672	1	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	ENST00000303354.6	-	11	1846	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S	SCN9A_ENST00000409435.1_Silent_p.S501S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.S501S|SCN9A_ENST00000375387.4_Silent_p.S502S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	501						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S501S(1)		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	0.038147	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	ENST00000392886.2	-	5	628	c.477C>T	c.(475-477)cgC>cgT	p.R159R	CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.R102R	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	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	0.037714	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	ENST00000263246.3	-	11	1605	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000496919.1_Intron|PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R|PACSIN2_ENST00000402229.1_Silent_p.R468R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	468	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	p.R468R(1)		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	0.080935	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	ENST00000440804.3	+	4	1013	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A316P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	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(1)		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	0.069234	0	0
FAM86C2P	0	broad.mit.edu	37	11	67560630	67560630	+	RNA	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.chr11:67560630A>G	ENST00000528089.1	-	0	1120																											GAGTGACTTGATTCTCACAAT	0.428000													4	80					0	0	0.080935	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	ENST00000261590.8	+	3	378	c.169G>A	c.(169-171)Gct>Act	p.A57T	DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	57	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A57T(1)		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	0.043863	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	ENST00000301873.5	-	14	2278	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	LTBP3_ENST00000536982.1_Silent_p.C296C|LTBP3_ENST00000532932.1_Silent_p.C100C|LTBP3_ENST00000322147.4_Silent_p.C670C	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	670	Cys-rich.|EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding	p.C670C(1)		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	0.021553	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	ENST00000507866.2	+	21	2970	c.2861G>A	c.(2860-2862)cGt>cAt	p.R954H	SORCS2_ENST00000329016.9_Missense_Mutation_p.R782H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	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	0.009096	0	0
CYP4F24P	0	broad.mit.edu	37	19	15881921	15881921	+	RNA	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	ENST00000587443.2	-	0	976					NR_033864.1													p.H152H(2)									CTGTGAAGTCGTGCACCAGGC	0.522000													10	49					0	0	0.080935	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	ENST00000394413.3	-	6	1331	c.761C>T	c.(760-762)gCa>gTa	p.A254V	PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	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	0.058154	0	0
DNAH7	56171	broad.mit.edu	37	2	196825327	196825327	+	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.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453000													4	116					0	0	0.014758	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	ENST00000178638.3	-	7	1055	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CA12_ENST00000422263.2_Silent_p.F145F|CA12_ENST00000344366.3_Silent_p.F205F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	205					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	p.F205F(1)		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	0.021553	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	ENST00000357033.4	-	18	2463	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	DMD_ENST00000378677.2_Missense_Mutation_p.E749K|DMD_ENST00000288447.4_Missense_Mutation_p.E745K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	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	0.080935	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	ENST00000276440.7	+	12	1209	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	389						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.A389T(1)		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	0.009096	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	ENST00000336596.2	+	5	1394	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N|EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	390	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.T390N(2)		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					0.00909568	0.0102507	0.009096	1	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	ENST00000262418.6	-	14	1823	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	556	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.N556N(1)		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	0.034045	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	ENST00000399362.4	-	28	3274	c.2921C>G	c.(2920-2922)gCa>gGa	p.A974G	CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000468888.2_Missense_Mutation_p.A975G|CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	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	0.054565	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	ENST00000359240.3	+	5	1852	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ADAM29_ENST00000445694.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|ADAM29_ENST00000514159.1_Silent_p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	394					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I394I(2)		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	0.030593	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	ENST00000366806.2	+	10	1459		c.e10+1		MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						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					0.000602214	0.00071262	0.014758	1	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	ENST00000261609.7	-	78	11926	c.11816_splice	c.e78-1	p.R3940_splice		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3940					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	0.030593	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	ENST00000392800.2	+	2	470	c.216G>C	c.(214-216)agG>agC	p.R72S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	72						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	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)		TAGTCAAAAGGACTGATGAAG	0.373000													4	39					0	0	0.014758	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	ENST00000392429.1	+	2	3008	c.630C>A	c.(628-630)atC>atA	p.I210I	TMEM200A_ENST00000545622.1_Silent_p.I210I|TMEM200A_ENST00000296978.3_Silent_p.I210I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	210						integral to membrane		p.I210I(2)		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					0.004672	0.00535019	0.004672	1	0
PRKCG	5582	broad.mit.edu	37	19	54387493	54387493	+	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.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGCCCCCAGACGGACGTGAGT	0.577000													14	67					0	0	0.020292	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	ENST00000376261.3	+	13	1850	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	GAD2_ENST00000259271.3_Silent_p.H449H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	449					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.H449H(1)		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	0.058154	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	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.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	26					0	0	0.014758	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	ENST00000545985.1	-	3	799	c.43T>G	c.(43-45)Tca>Gca	p.S15A	SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	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(1)		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	0.014758	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	ENST00000235329.5	+	7	1030		c.e7+2		MFN2_ENST00000444836.1_Splice_Site	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2						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	0.105934	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	ENST00000368013.3	-	7	1034	c.714A>G	c.(712-714)tcA>tcG	p.S238S	ARHGAP30_ENST00000368015.1_Silent_p.S61S|ARHGAP30_ENST00000368016.3_Silent_p.S238S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	238					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S238S(2)		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	0.004672	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	ENST00000470495.1	-	2	2004	c.557C>A	c.(556-558)gCg>gAg	p.A186E	HOXB3_ENST00000311626.4_Missense_Mutation_p.A186E|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A52E|HOXB3_ENST00000498678.1_Missense_Mutation_p.A186E|HOXB3_ENST00000476342.1_Missense_Mutation_p.A186E|HOXB3_ENST00000472863.1_Missense_Mutation_p.A113E|HOXB3_ENST00000460160.1_Missense_Mutation_p.A54E|HOXB3_ENST00000489475.1_Missense_Mutation_p.A113E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.A54E|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	186					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A186E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGGACGCCGCCGACCCCGG	0.751000													9	56					2.74318e-10	3.41694e-10	0.058154	1	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		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.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	64					0	0	0.009096	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42274671	42274671	+	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.chr17:42274671G>A	ENST00000389384.4	-	3	589	c.281C>T	c.(280-282)gCc>gTc	p.A94V	ATXN7L3_ENST00000454077.2_Missense_Mutation_p.A94V|ATXN7L3_ENST00000593073.1_Intron	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	94					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGGGAGGCGGCAATGCTGCG	0.597000													4	139					0	0	0.014758	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	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	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	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.R361H(2)		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	0.043863	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	ENST00000260382.5	+	15	2020	c.1760A>G	c.(1759-1761)aAc>aGc	p.N587S	LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	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	0.009096	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	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.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	58					0	0	0.014758	0	0
RP11-419C5.2	0	broad.mit.edu	37	16	70010511	70010511	+	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.chr16:70010511A>G	ENST00000532298.1	-	7	766	c.767T>C	c.(766-768)aTa>aCa	p.I256T	PDXDC2P_ENST00000531894.1_RNA														p.I256T(2)		breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						GTTATCAGTTATAGAATGTTG	0.498000													8	46					0	0	0.047766	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	ENST00000252818.3	-	1	1135	c.998A>G	c.(997-999)aAc>aGc	p.N333S		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	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	0.014758	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	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.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													3	67					0	0	0.009096	0	0
CHIA	27159	broad.mit.edu	37	1	111854851	111854851	+	Missense_Mutation	SNP	C	C	A	rs149356213	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.chr1:111854851C>A	ENST00000369740.1	+	4	198	c.95C>A	c.(94-96)gCc>gAc	p.A32D	CHIA_ENST00000483391.1_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.A32D	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	32					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	p.A32D(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACCAACTGGGCCCAGTACCGG	0.582000													5	97					1.23904e-05	1.49105e-05	0.014758	1	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	ENST00000442832.4	+	3	1203	c.969A>G	c.(967-969)aaA>aaG	p.K323K	CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Silent_p.K323K|ZNF587B_ENST00000316462.4_Intron	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	323					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.K323K(1)									ACGCTGGAAAAGGGCCTTATG	0.418000													2	6					0	0	0.004672	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	ENST00000367963.3	-	9	1437	c.1319T>C	c.(1318-1320)aTt>aCt	p.I440T	MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	440					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.I440T(1)|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	0.021553	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	ENST00000217133.1	+	4	644	c.375G>C	c.(373-375)gaG>gaC	p.E125D		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	125					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	p.E125D(2)		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	0.049695	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	ENST00000404971.1	-	2	1525	c.186C>T	c.(184-186)agC>agT	p.S62S	NRXN1_ENST00000401669.2_Silent_p.S62S|NRXN1_ENST00000405581.1_Silent_p.S62S|NRXN1_ENST00000402717.3_Silent_p.S62S|NRXN1_ENST00000406859.3_Silent_p.S62S|NRXN1_ENST00000406316.2_Silent_p.S62S|NRXN1_ENST00000405472.3_Silent_p.S62S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	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	0.014758	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	ENST00000409855.1	-	25	4455	c.4329T>A	c.(4327-4329)atT>atA	p.I1443I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1443					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I1443I(3)		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	0.037714	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	ENST00000354431.4	-	7	1409	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E406D	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	406								p.E406D(1)		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					3.27435e-08	4.00826e-08	0.020292	1	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	ENST00000392800.2	+	2	469	c.215G>A	c.(214-216)aGg>aAg	p.R72K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	72						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	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)		ATAGTCAAAAGGACTGATGAA	0.373000													4	41					0	0	0.014758	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	ENST00000239462.4	+	10	2420	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	769	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P769P(1)		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	0.038395	0	0
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	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.chr21:11058248G>A	ENST00000470054.1	-	0	399									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433000													5	86					0	0	0.029380	0	0
DNAH2	146754	broad.mit.edu	37	17	7690227	7690227	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:7690227A>T	ENST00000572933.1	+	42	7939	c.6479A>T	c.(6478-6480)gAc>gTc	p.D2160V	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	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(1)		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	0.105934	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr8:77690474C>T	ENST00000521891.2	+	4	3572	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042S(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	0.091800	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:196952162G>A	ENST00000367414.5	+	2	334	c.278G>A	c.(277-279)cGc>cAc	p.R93H	CFHR5_ENST00000256785.4_Missense_Mutation_p.R69H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	69	Sushi 2.				complement activation, alternative pathway	extracellular region		p.R69H(1)		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	0.058154	0	0
MYH4	4622	broad.mit.edu	37	17	10355525	10355525	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:10355525G>A	ENST00000255381.2	-	27	3581	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1157					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1157A(1)		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	0.064281	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr4:166935656G>A	ENST00000061240.2	+	8	1633	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R329Q|TLL1_ENST00000513213.1_Missense_Mutation_p.R329Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	329	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R329Q(1)		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	0.069234	0	0
SV2A	0	broad.mit.edu	37	1	149885276	149885276	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:149885276G>A	ENST00000369146.3	-	2	607	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_ENST00000369145.1_Silent_p.D39D	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	39	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D39D(2)		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	0.043863	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr12:105571030G>A	ENST00000258530.3	-	18	1870	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	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	0.047766	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:61949662G>C	ENST00000392886.2	-	5	629	c.478C>G	c.(478-480)Cgg>Ggg	p.R160G	CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	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	0.041601	0	0
LTBP3	4054	broad.mit.edu	37	11	65315007	65315007	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr11:65315007G>A	ENST00000301873.5	-	14	2278	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	LTBP3_ENST00000532932.1_Silent_p.C100C|LTBP3_ENST00000322147.4_Silent_p.C670C|LTBP3_ENST00000536982.1_Silent_p.C296C	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	670	Cys-rich.|EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding	p.C670C(1)		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	0.021553	0	0
IRX5	10265	broad.mit.edu	37	16	54966502	54966502	+	Silent	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr16:54966502A>G	ENST00000394636.4	+	2	679	c.342A>G	c.(340-342)ccA>ccG	p.P114P	IRX5_ENST00000320990.5_Silent_p.P114P|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.P48P			P78411	IRX5_HUMAN	iroquois homeobox 5	114					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	p.P114P(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACGGGGACCCAGCGTACCGGA	0.657000													17	81					0	0	0.033300	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:57956721A>C	ENST00000334181.4	+	3	2455	c.2205A>C	c.(2203-2205)aaA>aaC	p.K735N	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K735N(1)|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	0.049695	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr9:139701517C>A	ENST00000338005.6	+	13	1520	c.1486_splice	c.e13+1	p.I495_splice	KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	495								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					0.004672	0.00531889	0.004672	1	0
SCN9A	6335	broad.mit.edu	37	2	167142945	167142945	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr2:167142945C>T	ENST00000375387.4	-	11	1846	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.S501S|SCN9A_ENST00000303354.6_Silent_p.S502S|SCN9A_ENST00000409672.1_Silent_p.S501S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	501						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S501S(1)		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	0.038147	0	0
CSH2	1443	broad.mit.edu	37	17	61949663	61949663	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:61949663G>A	ENST00000392886.2	-	5	628	c.477C>T	c.(475-477)cgC>cgT	p.R159R	CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.R102R	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	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	0.037714	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:51630484G>C	ENST00000440804.3	+	4	1013	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A316P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	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(1)		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	0.069234	0	0
CYP4F24P	0	broad.mit.edu	37	19	15881921	15881921	+	RNA	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:15881921G>A	ENST00000587443.2	-	0	976					NR_033864.1													p.H152H(2)									CTGTGAAGTCGTGCACCAGGC	0.522000													10	49					0	0	0.080935	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr18:29099853G>A	ENST00000261590.8	+	3	378	c.169G>A	c.(169-171)Gct>Act	p.A57T	DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	57	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A57T(1)		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	0.043863	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													9	80					0	0	0.105934	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr4:7728622G>A	ENST00000507866.2	+	21	2970	c.2861G>A	c.(2860-2862)cGt>cAt	p.R954H	SORCS2_ENST00000329016.9_Missense_Mutation_p.R782H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	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	0.009096	0	0
PRKCG	5582	broad.mit.edu	37	19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M|PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGCCCCCAGACGGACGTGAGT	0.577000													14	67					0	0	0.020292	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr5:146017843G>A	ENST00000394413.3	-	6	1331	c.761C>T	c.(760-762)gCa>gTa	p.A254V	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	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	0.058154	0	0
DNAH7	56171	broad.mit.edu	37	2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453000													4	116					0	0	0.014758	0	0
CA12	771	broad.mit.edu	37	15	63632619	63632619	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr15:63632619G>A	ENST00000178638.3	-	7	1055	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CA12_ENST00000344366.3_Silent_p.F205F|CA12_ENST00000422263.2_Silent_p.F145F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	205					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	p.F205F(1)		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	0.021553	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chrX:32536160C>T	ENST00000357033.4	-	18	2463	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	DMD_ENST00000288447.4_Missense_Mutation_p.E745K|DMD_ENST00000378677.2_Missense_Mutation_p.E749K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	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	0.080935	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr8:25166414G>A	ENST00000276440.7	+	12	1209	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	389						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.A389T(1)		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	0.009096	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr3:89391103C>A	ENST00000336596.2	+	5	1394	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N|EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	390	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.T390N(2)		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					0.00909568	0.0101982	0.009096	1	0
SLC4A1	6521	broad.mit.edu	37	17	42333173	42333173	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:42333173G>A	ENST00000262418.6	-	14	1823	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	556	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.N556N(1)		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	0.034045	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr3:33602330G>C	ENST00000399362.4	-	28	3274	c.2921C>G	c.(2920-2922)gCa>gGa	p.A974G	CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000468888.2_Missense_Mutation_p.A975G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	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	0.054565	0	0
ADAM29	11086	broad.mit.edu	37	4	175897858	175897858	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr4:175897858C>T	ENST00000359240.3	+	5	1852	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ADAM29_ENST00000514159.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|ADAM29_ENST00000445694.1_Silent_p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	394					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I394I(2)		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	0.030593	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr6:168297653G>T	ENST00000366806.2	+	10	1459		c.e10+1		MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						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					0.000602214	0.000718772	0.014758	1	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr15:28386775G>A	ENST00000261609.7	-	78	11926	c.11816_splice	c.e78-1	p.R3940_splice		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3940					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	0.030593	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr7:151664547G>C	ENST00000392800.2	+	2	470	c.216G>C	c.(214-216)agG>agC	p.R72S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	72						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	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)		TAGTCAAAAGGACTGATGAAG	0.373000													4	39					0	0	0.014758	0	0
PACSIN2	11252	broad.mit.edu	37	22	43267420	43267420	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr22:43267420G>A	ENST00000263246.3	-	11	1605	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000402229.1_Silent_p.R468R|PACSIN2_ENST00000496919.1_Intron|PACSIN2_ENST00000337959.4_Silent_p.R427R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	468	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	p.R468R(1)		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	0.080935	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762197	130762197	+	Silent	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr6:130762197C>A	ENST00000392429.1	+	2	3008	c.630C>A	c.(628-630)atC>atA	p.I210I	TMEM200A_ENST00000296978.3_Silent_p.I210I|TMEM200A_ENST00000545622.1_Silent_p.I210I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	210						integral to membrane		p.I210I(2)		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					0.004672	0.00531889	0.004672	1	0
GAD2	2572	broad.mit.edu	37	10	26575384	26575384	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr10:26575384C>T	ENST00000376261.3	+	13	1850	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	GAD2_ENST00000259271.3_Silent_p.H449H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	449					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.H449H(1)		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	0.058154	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	69					0	0	0.014758	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr11:118900037A>C	ENST00000545985.1	-	3	799	c.43T>G	c.(43-45)Tca>Gca	p.S15A	SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	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(1)		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	0.014758	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:12058937T>A	ENST00000235329.5	+	7	1030		c.e7+2		MFN2_ENST00000444836.1_Splice_Site	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2						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	0.105934	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022538	161022538	+	Silent	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:161022538T>C	ENST00000368013.3	-	7	1034	c.714A>G	c.(712-714)tcA>tcG	p.S238S	ARHGAP30_ENST00000368016.3_Silent_p.S238S|ARHGAP30_ENST00000368015.1_Silent_p.S61S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	238					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S238S(2)		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	0.004672	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:46628435G>T	ENST00000470495.1	-	2	2004	c.557C>A	c.(556-558)gCg>gAg	p.A186E	HOXB3_ENST00000476342.1_Missense_Mutation_p.A186E|HOXB3_ENST00000485909.2_Missense_Mutation_p.A54E|HOXB3_ENST00000460160.1_Missense_Mutation_p.A54E|HOXB3_ENST00000472863.1_Missense_Mutation_p.A113E|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A52E|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.A113E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.A186E|HOXB3_ENST00000498678.1_Missense_Mutation_p.A186E			P14651	HXB3_HUMAN	homeobox B3	186					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A186E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGGACGCCGCCGACCCCGG	0.751000													9	56					2.74318e-10	3.49992e-10	0.058154	1	0
ATXN7L3	56970	broad.mit.edu	37	17	42274671	42274671	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:42274671G>A	ENST00000389384.4	-	3	589	c.281C>T	c.(280-282)gCc>gTc	p.A94V	ATXN7L3_ENST00000454077.2_Missense_Mutation_p.A94V|ATXN7L3_ENST00000593073.1_Intron	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	94					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGGGAGGCGGCAATGCTGCG	0.597000													4	139					0	0	0.014758	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	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	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.R361H(2)		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	0.043863	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr15:71329574A>G	ENST00000260382.5	+	15	2020	c.1760A>G	c.(1759-1761)aAc>aGc	p.N587S	LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	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	0.009096	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	58					0	0	0.014758	0	0
RP11-419C5.2	0	broad.mit.edu	37	16	70010511	70010511	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr16:70010511A>G	ENST00000532298.1	-	7	766	c.767T>C	c.(766-768)aTa>aCa	p.I256T	PDXDC2P_ENST00000531894.1_RNA														p.I256T(2)		breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						GTTATCAGTTATAGAATGTTG	0.498000													8	46					0	0	0.047766	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:18391297T>C	ENST00000252818.3	-	1	1135	c.998A>G	c.(997-999)aAc>aGc	p.N333S		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	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	0.014758	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													3	67					0	0	0.009096	0	0
CHIA	27159	broad.mit.edu	37	1	111854851	111854851	+	Missense_Mutation	SNP	C	C	A	rs149356213	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:111854851C>A	ENST00000369740.1	+	4	198	c.95C>A	c.(94-96)gCc>gAc	p.A32D	CHIA_ENST00000451398.2_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.A32D|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	32					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	p.A32D(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACCAACTGGGCCCAGTACCGG	0.582000													5	97					1.23904e-05	1.5031e-05	0.014758	1	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													3	82					0	0	0.029380	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr6:132641814A>G	ENST00000367963.3	-	9	1437	c.1319T>C	c.(1318-1320)aTt>aCt	p.I440T	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	440					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.I440T(1)|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	0.021553	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr20:57598857G>C	ENST00000217133.1	+	4	644	c.375G>C	c.(373-375)gaG>gaC	p.E125D		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	125					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	p.E125D(2)		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	0.049695	0	0
NRXN1	9378	broad.mit.edu	37	2	51255226	51255226	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr2:51255226G>A	ENST00000404971.1	-	2	1525	c.186C>T	c.(184-186)agC>agT	p.S62S	NRXN1_ENST00000402717.3_Silent_p.S62S|NRXN1_ENST00000405581.1_Silent_p.S62S|NRXN1_ENST00000401669.2_Silent_p.S62S|NRXN1_ENST00000406859.3_Silent_p.S62S|NRXN1_ENST00000406316.2_Silent_p.S62S|NRXN1_ENST00000405472.3_Silent_p.S62S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	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	0.014758	0	0
SCN7A	6332	broad.mit.edu	37	2	167262810	167262810	+	Silent	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr2:167262810A>T	ENST00000409855.1	-	25	4455	c.4329T>A	c.(4327-4329)atT>atA	p.I1443I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1443					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I1443I(3)		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	0.037714	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:74507397C>A	ENST00000354431.4	-	7	1409	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E406D	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	406								p.E406D(1)		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					3.27435e-08	4.10682e-08	0.020292	1	0
GALNTL5	168391	broad.mit.edu	37	7	151664546	151664546	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr7:151664546G>A	ENST00000392800.2	+	2	469	c.215G>A	c.(214-216)aGg>aAg	p.R72K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	72						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	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)		ATAGTCAAAAGGACTGATGAA	0.373000													4	41					0	0	0.014758	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-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr1:175086262G>A	ENST00000239462.4	+	10	2420	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	769	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P769P(1)		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	0.038395	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													6	43					0	0	0.047766	0	0
GALNT13	114805	broad.mit.edu	37	2	155099377	155099377	+	Frame_Shift_Del	DEL	A	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	ENST00000392825.3	+	6	1212	c.645delA	c.(643-645)ttfs	p.L215fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	215	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			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	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	ENST00000283916.6	-	3	288_291	c.190_193delCAGT	c.(190-195)tafs	p.QL64fs	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.Q64*(1)		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	---	---	---	---					
RP11-941H19.3	0	broad.mit.edu	37	8	81213784	81213784	+	RNA	DEL	A	A	-	rs7842505		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.chr8:81213784delA	ENST00000522044.1	+	0	404																											CTCACCCCCCACCACcacaca	0.552													4	3	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	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	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	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(3)		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	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		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.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													4	8	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56060635	56060635	+	Frame_Shift_Del	DEL	T	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	ENST00000584396.1	-	2	214	c.126delA	c.(124-126)aafs	p.K42fs	VEZF1_ENST00000581208.1_Frame_Shift_Del_p.K51fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	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	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	ENST00000292530.6	+	12	1185_1203	c.1094_1112delCCTATGCATGTAACAAATG	c.(1093-1113)ttfs	p.SYACNKC365fs	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	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			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	ENST00000221419.5	-	8	1376_1377	c.1010_1011insC	c.(1009-1011)cccfs	p.P337fs	HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	337	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA 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	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	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	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													7	18	---	---	---	---					
GALNT13	114805	broad.mit.edu	37	2	155099377	155099377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr2:155099377delA	ENST00000392825.3	+	6	1212	c.645delA	c.(643-645)ttfs	p.L215fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	215	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			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	ACTG	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr4:68719842_68719845delACTG	ENST00000283916.6	-	3	288_291	c.190_193delCAGT	c.(190-195)tafs	p.QL64fs	TMPRSS11D_ENST00000509584.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.Q64*(1)		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	TAGCTGCTACCTCCGGAGCCA	-	rs66529359	by1000genomes	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	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(3)		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	---	---	---	---					
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	RNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs36211516	by1000genomes	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448													2	4	---	---	---	---					
RP11-1166P10.8	0	broad.mit.edu	37	16	32126912	32126912	+	RNA	DEL	A	A	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr16:32126912delA	ENST00000564145.1	-	0	456																											TATTTTGCCCACCCGCCGCCG	0.602													3	5	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56060635	56060635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr17:56060635delT	ENST00000584396.1	-	2	214	c.126delA	c.(124-126)aafs	p.K42fs	VEZF1_ENST00000581208.1_Frame_Shift_Del_p.K51fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	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	CCTATGCATGTAACAAATG	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	7acf9756-985c-4f43-8c76-8a3e1007ff5d	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG	ENST00000292530.6	+	12	1185_1203	c.1094_1112delCCTATGCATGTAACAAATG	c.(1093-1113)ttfs	p.SYACNKC365fs	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	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	---	---	---	---