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
C9orf129	445577	broad.mit.edu	37	9	96080730	96080730	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:96080730G>A	ENST00000375419.1	-	5	904	c.541C>T	c.(541-543)Ccg>Tcg	p.P181S	WNK2_ENST00000395477.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	181										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						CACACTGGCGGAGCTGCTTGC	0.612000													8	86					0	0	0.006214	0	0
PRKCH	5583	broad.mit.edu	37	14	61997242	61997242	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:61997242G>A	ENST00000332981.5	+	12	2075	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	PRKCH_ENST00000555082.1_Missense_Mutation_p.E403K|RP11-47I22.4_ENST00000556347.1_Silent_p.L68L	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	564	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGACCTCTTTGAGGCCATACT	0.522000													12	86					0	0	0.001855	0	0
DNAH7	56171	broad.mit.edu	37	2	196740445	196740445	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:196740445C>A	ENST00000312428.6	-	38	6340	c.6240G>T	c.(6238-6240)atG>atT	p.M2080I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2080	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						CTAGTTTAATCATGGAACAAT	0.418000													9	32					3.09899e-07	4.02868e-07	0.004482	1	0
ABCC6	368	broad.mit.edu	37	16	16302622	16302622	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:16302622C>G	ENST00000205557.7	-	7	786	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	253					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CACTCCTTTTCAAGCCGGGAA	0.542000													9	85					0	0	0.004482	0	0
RLIM	51132	broad.mit.edu	37	X	73811920	73811920	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:73811920C>G	ENST00000332687.6	-	4	1448	c.1230G>C	c.(1228-1230)atG>atC	p.M410I	RLIM_ENST00000349225.2_Missense_Mutation_p.M410I	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	410					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAAACCTGTCATTATCTGCC	0.408000													8	91					0	0	0.004482	0	0
CARKD	55739	broad.mit.edu	37	13	111290831	111290831	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:111290831A>T	ENST00000309957.2	+	10	1150	c.1136A>T	c.(1135-1137)gAt>gTt	p.D379V	CARKD_ENST00000458711.2_Missense_Mutation_p.I203F|CARKD_ENST00000424185.2_Missense_Mutation_p.I224F|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	0										NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CTCCGACATGATCGCCGAGGT	0.632000													15	64					0	0	0.004007	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383245	41383245	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:41383245C>G	ENST00000301146.4	-	7	1552	c.1011G>C	c.(1009-1011)aaG>aaC	p.K337N	CYP2A7_ENST00000291764.3_Missense_Mutation_p.K286N|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	337						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTGCCGGTTCTTGCCGATCA	0.532000													6	59					0	0	0.004482	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763244	5763244	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:5763244G>C	ENST00000414202.2	+	19	2408	c.2217G>C	c.(2215-2217)ctG>ctC	p.L739L	KIAA1432_ENST00000251879.6_Silent_p.L739L|KIAA1432_ENST00000449720.2_Silent_p.L623L|KIAA1432_ENST00000418622.3_Silent_p.L660L|KIAA1432_ENST00000381532.2_Silent_p.L660L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	739						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCCTCTGGCTGAGCTGTGGTG	0.532000													5	114					0	0	0.000602	0	0
BDP1	55814	broad.mit.edu	37	5	70805797	70805797	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:70805797A>T	ENST00000358731.4	+	17	3141	c.2878A>T	c.(2878-2880)Act>Tct	p.T960S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	960	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTGAAAGCAACTGGAAATGA	0.428000													17	59					0	0	0.004007	0	0
OR2L13	284521	broad.mit.edu	37	1	248263108	248263108	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:248263108T>C	ENST00000366478.2	+	3	768	c.431T>C	c.(430-432)aTt>aCt	p.I144T	OR2L13_ENST00000358120.2_Missense_Mutation_p.I144T	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GTGAAGATGATTGGAGGCTCT	0.488000													26	206					0	0	0.003954	0	0
CD180	4064	broad.mit.edu	37	5	66479858	66479858	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:66479858G>C	ENST00000256447.4	-	3	970	c.813C>G	c.(811-813)ctC>ctG	p.L271L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	271					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		ACATTTCACAGAGTCCCTTGA	0.463000													5	59					0	0	0.000602	0	0
EGFL8	80864	broad.mit.edu	37	6	32134567	32134567	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:32134567C>A	ENST00000395512.1	+	4	419	c.314C>A	c.(313-315)cCg>cAg	p.P105Q	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.P105Q			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	105	EMI.					extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AAGCGGCACCCGGGGGCGCTC	0.667000													3	43					0.004672	0.00515013	0.004672	1	0
IGKV1-9	28941	broad.mit.edu	37	2	89309562	89309562	+	RNA	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:89309562C>T	ENST00000493819.1	-	0	325																											AATTCTGTCCCAGATCCACTG	0.478000													23	198					0	0	0.012319	0	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:31237922G>C	ENST00000251758.5	+	5	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.R167T(11)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)			3	14					0	0	0.009096	0	0
HUWE1	10075	broad.mit.edu	37	X	53591666	53591666	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:53591666C>G	ENST00000342160.3	-	50	7355	c.6898G>C	c.(6898-6900)Gaa>Caa	p.E2300Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2300Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2300	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTGCACTTCTGCTTCCCCA	0.517000													5	107					0	0	0.001984	0	0
CD93	22918	broad.mit.edu	37	20	23066051	23066051	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:23066051G>A	ENST00000246006.4	-	1	926	c.779C>T	c.(778-780)cCc>cTc	p.P260L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	260	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCATACTTGGGGCTGACACA	0.602000													14	172					0	0	0.002450	0	0
USP26	83844	broad.mit.edu	37	X	132160973	132160973	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:132160973C>G	ENST00000511190.1	-	6	1745	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H	USP26_ENST00000370832.1_Missense_Mutation_p.D426H|USP26_ENST00000406273.1_Missense_Mutation_p.D426H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	426					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCACTGGTGTCAGGATCATCA	0.378000													11	80					0	0	0.008291	0	0
ABLIM3	22885	broad.mit.edu	37	5	148632354	148632354	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:148632354G>A	ENST00000506113.1	+	22	2374	c.1892G>A	c.(1891-1893)aGa>aAa	p.R631K	ABLIM3_ENST00000309868.7_Missense_Mutation_p.R631K|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R598K|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R117K|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R536K|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R520K|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R520K|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	631	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTACAAGAGGAAGAAAC	0.488000													5	75					0	0	0.000602	0	0
PDZD2	23037	broad.mit.edu	37	5	32010523	32010523	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:32010523G>A	ENST00000438447.1	+	6	1730	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D448N			O15018	PDZD2_HUMAN	PDZ domain containing 2	448					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCCTGGACTGATAACGAAGA	0.532000													8	76					0	0	0.003080	0	0
PFKL	5211	broad.mit.edu	37	21	45741720	45741720	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr21:45741720G>T	ENST00000403390.1	+	14	1441	c.1441G>T	c.(1441-1443)Gtg>Ttg	p.V481L	PFKL_ENST00000349048.4_Missense_Mutation_p.V434L			P17858	K6PL_HUMAN	phosphofructokinase, liver	434					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CACAGTATACGTGGTGCACGA	0.647000													19	85					5.03518e-11	7.03061e-11	0.007413	1	0
SSPO	23145	broad.mit.edu	37	7	149528279	149528279	+	RNA	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:149528279G>T	ENST00000378016.2	+	0	15198							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCACCAAAGGGACCTGTTACC	0.617000													4	24					1.23904e-05	1.53153e-05	0.000602	1	0
HSF2	3298	broad.mit.edu	37	6	122744757	122744757	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:122744757G>C	ENST00000452194.1	+	10	1289	c.1102G>C	c.(1102-1104)Gac>Cac	p.D368H	HSF2_ENST00000368455.4_Missense_Mutation_p.D368H|HSF2_ENST00000465214.1_3'UTR	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	368	Hydrophobic repeat HR-C.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TGACAGTATTGACTGCAGTTT	0.343000													7	61					0	0	0.004482	0	0
RBMX	27316	broad.mit.edu	37	X	135960088	135960088	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:135960088C>A	ENST00000562646.1	-	4	528	c.374G>T	c.(373-375)cGg>cTg	p.R125L	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.R125L|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000565438.1_5'UTR			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	125						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GTGTCCTCCCCGTGAGGGAGG	0.547000													7	76					8.12818e-05	9.63624e-05	0.001984	1	0
RASAL2	9462	broad.mit.edu	37	1	178421649	178421649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:178421649C>G	ENST00000448150.3	+	11	2635	c.1817C>G	c.(1816-1818)tCa>tGa	p.S606*	RASAL2_ENST00000462775.1_Nonsense_Mutation_p.S476*|RASAL2_ENST00000367649.3_Nonsense_Mutation_p.S624*	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	476					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATCAGTGCCTCATTATTTCTC	0.478000													10	200					0	0	0.006214	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600659	232600659	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:232600659C>G	ENST00000366630.1	-	8	3105	c.2747G>C	c.(2746-2748)aGa>aCa	p.R916T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R916T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	916					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACATTCTCCTCTTTCGTAAAA	0.413000													4	53					0	0	0.000602	0	0
KIAA1045	23349	broad.mit.edu	37	9	34977173	34977173	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:34977173G>C	ENST00000242315.3	+	6	1025	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.E315Q	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	315							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAGTGAGGCAGAGTGCCGCCG	0.632000													8	104					0	0	0.008291	0	0
LRP1B	53353	broad.mit.edu	37	2	141680547	141680547	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:141680547G>T	ENST00000389484.3	-	21	4277	c.3306C>A	c.(3304-3306)tcC>tcA	p.S1102S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1102	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACTCCAACAGGAAAACTTGG	0.438000										TSP Lung(27;0.18)			7	41					5.18039e-06	6.44557e-06	0.003080	1	0
LRRC8C	84230	broad.mit.edu	37	1	90180404	90180404	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:90180404G>A	ENST00000370454.4	+	3	2530	c.2275G>A	c.(2275-2277)Gta>Ata	p.V759I	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	759						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTACTTAGATGTAAAAGGTAA	0.393000													5	55					0	0	0.000602	0	0
CDH10	1008	broad.mit.edu	37	5	24498546	24498546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:24498546G>T	ENST00000264463.4	-	9	1983	c.1476C>A	c.(1474-1476)ttC>ttA	p.F492L	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	492	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGTGTCATAGAACACAGCAA	0.398000										HNSCC(23;0.051)			8	39					3.09899e-07	4.02868e-07	0.004482	1	0
TCEAL5	340543	broad.mit.edu	37	X	102529098	102529098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:102529098G>A	ENST00000372680.1	-	3	688	c.394C>T	c.(394-396)Cag>Tag	p.Q132*		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AAGTCCTCCTGAGAGTCCTTG	0.532000													6	166					0	0	0.001984	0	0
BTBD9	114781	broad.mit.edu	37	6	38562074	38562074	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:38562074G>C	ENST00000481247.1	-	3	366	c.215C>G	c.(214-216)tCt>tGt	p.S72C	BTBD9_ENST00000408958.1_Missense_Mutation_p.S4C|BTBD9_ENST00000419706.2_Missense_Mutation_p.S13C|BTBD9_ENST00000403056.1_Missense_Mutation_p.S72C|BTBD9_ENST00000314100.6_Missense_Mutation_p.S4C	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	72	BTB.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TTCAGGCTGAGACTCTCGCAT	0.428000													6	68					0	0	0.001168	0	0
U2AF2	11338	broad.mit.edu	37	19	56180086	56180086	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:56180086C>G	ENST00000450554.2	+	9	1832	c.873C>G	c.(871-873)gtC>gtG	p.V291V	U2AF2_ENST00000590551.1_Silent_p.V127V|U2AF2_ENST00000308924.4_Silent_p.V291V|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	291	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCAACCTGGTCAAGGACAGTG	0.632000													9	65					0	0	0.008291	0	0
PRAM1	84106	broad.mit.edu	37	19	8563881	8563881	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:8563881T>C	ENST00000423345.4	-	2	1331	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E	PRAM1_ENST00000255612.3_Missense_Mutation_p.K271E			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	319	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GAGGCCTTTTTGGGAAAGGCG	0.632000													14	40					0	0	0.002450	0	0
CCL16	6360	broad.mit.edu	37	17	34304721	34304721	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:34304721C>T	ENST00000293275.3	-	3	319	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	82					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGACCCAGTCGTCATTGGGG	0.522000													8	110					0	0	0.004482	0	0
WNK1	65125	broad.mit.edu	37	12	1006841	1006841	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:1006841C>T	ENST00000537687.1	+	25	7865	c.7222C>T	c.(7222-7224)Ctt>Ttt	p.L2408F	WNK1_ENST00000535572.1_Missense_Mutation_p.L1900F|WNK1_ENST00000530271.2_Missense_Mutation_p.L2646F|WNK1_ENST00000315939.6_Missense_Mutation_p.L2148F|WNK1_ENST00000340908.4_Missense_Mutation_p.L1741F	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2148					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAGCCCCCAGCTTTCAGGTAA	0.488000													3	25					0	0	0.004672	0	0
PAK7	57144	broad.mit.edu	37	20	9561232	9561232	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:9561232C>T	ENST00000378429.3	-	5	1096	c.550G>A	c.(550-552)Gag>Aag	p.E184K	PAK7_ENST00000378423.1_Missense_Mutation_p.E184K|PAK7_ENST00000353224.5_Missense_Mutation_p.E184K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	184	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGCTTCACCTCAGAATAGTAG	0.458000													12	117					0	0	0.001368	0	0
DDX4	54514	broad.mit.edu	37	5	55083796	55083796	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:55083796G>A	ENST00000505374.1	+	15	1232	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	DDX4_ENST00000353507.5_Silent_p.Q346Q|DDX4_ENST00000511853.1_Silent_p.Q231Q|DDX4_ENST00000354991.5_Silent_p.Q346Q|DDX4_ENST00000514278.2_Silent_p.Q360Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	380	Helicase ATP-binding.			Q -> K (in Ref. 5; AAH47455).	multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGTCAACCAGATTTATTTGG	0.373000													3	28					0	0	0.009096	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977961	53977961	+	Missense_Mutation	SNP	G	G	C	rs139014010		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:53977961G>C	ENST00000263634.3	-	3	448	c.314C>G	c.(313-315)cCt>cGt	p.P105R	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.P143R|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.P32R|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.P32R|ASB3_ENST00000406625.2_Missense_Mutation_p.P140R|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		140					intracellular signal transduction												AGTTGCATTAGGATCTGCCCC	0.353000													9	45					0	0	0.006214	0	0
CNTRL	11064	broad.mit.edu	37	9	123919802	123919802	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:123919802G>C	ENST00000373855.1	+	28	4680	c.4420G>C	c.(4420-4422)Gag>Cag	p.E1474Q	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E922Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1474Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.E922Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1474					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATTGCAAACTGAGTCAGATGC	0.408000													4	41					0	0	0.009096	0	0
CHD1L	9557	broad.mit.edu	37	1	146756095	146756095	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:146756095G>C	ENST00000369258.4	+	16	1797	c.1777G>C	c.(1777-1779)Gaa>Caa	p.E593Q	CHD1L_ENST00000361293.5_Missense_Mutation_p.E312Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.E389Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.E499Q|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	593					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AAAATCATTTGAACAACTGGT	0.333000													8	88					0	0	0.006214	0	0
LCT	3938	broad.mit.edu	37	2	136547323	136547323	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:136547323G>A	ENST00000264162.2	-	16	5391	c.5381C>T	c.(5380-5382)gCg>gTg	p.A1794V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1794	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATTGTCCATCGCACTCCAAAC	0.483000													13	128					0	0	0.001368	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604343	140604343	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140604343C>A	ENST00000239449.4	+	1	1266	c.1266C>A	c.(1264-1266)acC>acA	p.T422T	PCDHB14_ENST00000515856.2_Silent_p.T269T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		422	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACGATCACCGTCACAGACT	0.498000													10	141					0.00621372	0.00682965	0.006214	1	0
MGA	23269	broad.mit.edu	37	15	42041375	42041375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:42041375C>T	ENST00000219905.7	+	17	5751	c.5570C>T	c.(5569-5571)tCg>tTg	p.S1857L	MGA_ENST00000566586.1_Missense_Mutation_p.S1648L|MGA_ENST00000389936.4_Missense_Mutation_p.S1818L|MGA_ENST00000570161.1_Missense_Mutation_p.S1857L|MGA_ENST00000545763.1_Missense_Mutation_p.S1648L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1818						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCTTCCACTTCGTCCTCTGCT	0.443000													6	81					0	0	0.001984	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047735	42047735	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:42047735C>G	ENST00000372584.1	-	3	3748	c.2734G>C	c.(2734-2736)Gag>Cag	p.E912Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E912Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E912Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E912Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	912	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGGCCATCTCTGCCAGGCGC	0.592000													8	127					0	0	0.003080	0	0
SRGAP1	57522	broad.mit.edu	37	12	64437229	64437229	+	Silent	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:64437229A>G	ENST00000355086.3	+	6	1199	c.675A>G	c.(673-675)agA>agG	p.R225R	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.R225R|SRGAP1_ENST00000543397.1_Silent_p.R185R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	225					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CATTCCAGAGACAAGCAAAAT	0.333000													4	21					0	0	0.009096	0	0
MMP19	4327	broad.mit.edu	37	12	56232375	56232375	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:56232375G>A	ENST00000409200.3	-	5	769	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	MMP19_ENST00000548629.1_Intron|MMP19_ENST00000322569.4_Intron			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	0					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						ACAGCCTGGAGGGGAGGGGCC	0.617000													7	53					0	0	0.001984	0	0
AR	367	broad.mit.edu	37	X	66863140	66863140	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:66863140C>G	ENST00000374690.3	+	2	2183	c.1659C>G	c.(1657-1659)taC>taG	p.Y553*	AR_ENST00000504326.1_Nonsense_Mutation_p.Y553*|AR_ENST00000396044.3_Nonsense_Mutation_p.Y553*|AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Nonsense_Mutation_p.Y21*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	552	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTGACTATTACTTTCCACCCC	0.468000									Androgen Insensitivity Syndrome				7	58					0	0	0.003080	0	0
BBS1	582	broad.mit.edu	37	11	66282012	66282012	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:66282012C>T	ENST00000419755.3	+	4	484	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	BBS1_ENST00000537537.1_Silent_p.S2S|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.P99S|BBS1_ENST00000455748.2_Missense_Mutation_p.P99S|BBS1_ENST00000393994.2_Missense_Mutation_p.P99S																							GCAACATGAGCCCCGGACCCC	0.572000													13	184					0	0	0.001855	0	0
EPHA8	2046	broad.mit.edu	37	1	22915468	22915468	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:22915468T>C	ENST00000166244.3	+	5	1156	c.1084T>C	c.(1084-1086)Tac>Cac	p.Y362H	EPHA8_ENST00000374644.4_Missense_Mutation_p.Y362H|EPHA8_ENST00000538803.1_Missense_Mutation_p.Y362H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	362	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGACATCACCTACAATGCCGT	0.657000													4	27					0	0	0.000602	0	0
TREM2	54209	broad.mit.edu	37	6	41126515	41126515	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:41126515A>C	ENST00000373113.3	-	5	773	c.680T>G	c.(679-681)cTg>cGg	p.L227R	TREM2_ENST00000373122.4_3'UTR|TREM2_ENST00000338469.3_Silent_p.A162A	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	227					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGTGTCTCTCAGCCCTGCAAT	0.617000													10	93					0	0	0.006214	0	0
GPR98	84059	broad.mit.edu	37	5	89985761	89985761	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:89985761G>C	ENST00000405460.2	+	30	6670	c.6574G>C	c.(6574-6576)Gat>Cat	p.D2192H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2192	Calx-beta 15.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTCATTAATGATATCTATCC	0.393000													5	20					0	0	0.000602	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432960	140432960	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140432960C>G	ENST00000306549.3	+	1	1982	c.1905C>G	c.(1903-1905)gaC>gaG	p.D635E		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		635	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGAGAGACCCCATGATGC	0.428000													7	107					0	0	0.004482	0	0
PDE3B	5140	broad.mit.edu	37	11	14865513	14865513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:14865513C>A	ENST00000282096.4	+	12	2814	c.2461C>A	c.(2461-2463)Cat>Aat	p.H821N	PDE3B_ENST00000455098.2_Missense_Mutation_p.H770N	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	821	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCTGCCATGCATGATTATGA	0.418000													23	62					1.42536e-11	2.01258e-11	0.004656	1	0
ALG13	79868	broad.mit.edu	37	X	110951607	110951607	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:110951607G>T	ENST00000394780.3	+	4	748	c.736G>T	c.(736-738)Gcc>Tcc	p.A246S	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.A142S	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	246	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CCTCTTTCGGGCCATTTCGGA	0.448000													12	146					7.93312e-07	1.02424e-06	0.002450	1	0
ADCK2	90956	broad.mit.edu	37	7	140390572	140390572	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:140390572A>C	ENST00000072869.4	+	7	1877	c.1699A>C	c.(1699-1701)Agc>Cgc	p.S567R	ADCK2_ENST00000476491.1_Missense_Mutation_p.S567R	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	567	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TCATGTGTCCAGCCTTCTCTC	0.547000													26	293					0	0	0.006320	0	0
OR5B21	219968	broad.mit.edu	37	11	58275352	58275352	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:58275352G>A	ENST00000360374.2	-	1	226	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CGTTTTGGGGGCTACAGCTGA	0.507000													6	54					0	0	0.003080	0	0
F8	2157	broad.mit.edu	37	X	154221309	154221309	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:154221309G>A	ENST00000360256.4	-	4	703	c.503C>T	c.(502-504)tCt>tTt	p.S168F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	168	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAGTGGGTCAGAGGCCATTGG	0.463000													16	193					0	0	0.006122	0	0
MBOAT2	129642	broad.mit.edu	37	2	9008594	9008594	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:9008594C>G	ENST00000305997.3	-	9	1167	c.969G>C	c.(967-969)ttG>ttC	p.L323F	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	323					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTGAATTCTCAAATTGGAAA	0.363000													8	58					0	0	0.003080	0	0
C19orf43	79002	broad.mit.edu	37	19	12842184	12842184	+	Missense_Mutation	SNP	C	C	A	rs11542951		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:12842184C>A	ENST00000242784.4	-	2	514	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	C19orf43_ENST00000588213.1_Missense_Mutation_p.S125I|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	133										endometrium(2)|large_intestine(2)	4						TGCTTCTTGGCTACTATTCCC	0.597000													11	58					3.07112e-06	3.88527e-06	0.010729	1	0
FIGN	55137	broad.mit.edu	37	2	164468312	164468312	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:164468312C>G	ENST00000333129.3	-	3	344	c.30G>C	c.(28-30)ttG>ttC	p.L10F	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	10						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTGCATCTTCAAGCCTAAGA	0.443000													3	42					0	0	0.004672	0	0
SDK2	54549	broad.mit.edu	37	17	71427671	71427671	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:71427671C>T	ENST00000392650.3	-	11	1450	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	SDK2_ENST00000388726.3_Missense_Mutation_p.D484N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	484	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAGGCCTCATCGACCCCCCGA	0.597000													19	172					0	0	0.010504	0	0
BICC1	80114	broad.mit.edu	37	10	60566792	60566792	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:60566792G>A	ENST00000373886.3	+	17	2254	c.2250G>A	c.(2248-2250)gaG>gaA	p.E750E	BICC1_ENST00000263103.1_Silent_p.E376E	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	750					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGGTGACGGAGGTCAGAACGC	0.398000													7	48					0	0	0.003080	0	0
STK11	6794	broad.mit.edu	37	19	1218415	1218415	+	Splice_Site	SNP	G	G	T	rs112675807		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:1218415G>T	ENST00000326873.7	+	2	1463		c.e2-1		STK11_ENST00000585748.1_Splice_Site	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGTCCCAGGGAAATTCAA	0.522000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			23	106					3.62473e-10	4.98731e-10	0.012319	1	0
PCDH9	5101	broad.mit.edu	37	13	67801390	67801390	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:67801390C>A	ENST00000544246.1	-	2	1874	c.1183G>T	c.(1183-1185)Gtg>Ttg	p.V395L	PCDH9_ENST00000456367.1_Missense_Mutation_p.V395L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V395L|PCDH9_ENST00000377861.3_Missense_Mutation_p.V395L|PCDH9_ENST00000377865.2_Missense_Mutation_p.V395L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	395	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGCCATTCACATCTGTGTCC	0.373000													4	82					0.00909568	0.00985365	0.009096	1	0
MUC16	94025	broad.mit.edu	37	19	9061796	9061796	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:9061796C>T	ENST00000397910.4	-	3	25853	c.25650G>A	c.(25648-25650)ccG>ccA	p.P8550P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8552	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGAAGGCTCGGCCATGGCA	0.498000													5	42					0	0	0.000602	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422873	37422873	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:37422873G>A	ENST00000374660.1	+	5	578	c.479G>A	c.(478-480)gGa>gAa	p.G160E	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G160E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G160E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTATGTCATGGATCATCAGAG	0.378000													11	137					0	0	0.001368	0	0
GPR176	11245	broad.mit.edu	37	15	40093560	40093560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:40093560C>A	ENST00000299092.3	-	4	1516	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	GPR176_ENST00000561100.1_Nonsense_Mutation_p.E441*|GPR176_ENST00000543580.1_Nonsense_Mutation_p.E396*	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	441					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GTTTCAGGTTCCACAGGGGCT	0.592000													6	140					0.00116845	0.00130713	0.001168	1	0
SI	6476	broad.mit.edu	37	3	164757724	164757724	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:164757724G>C	ENST00000264382.3	-	19	2257	c.2195C>G	c.(2194-2196)aCt>aGt	p.T732S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	732	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.T732N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAAAACTCAGTGTCCTCAAT	0.333000										HNSCC(35;0.089)			7	102					0	0	0.001984	0	0
SIRT7	51547	broad.mit.edu	37	17	79875977	79875977	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:79875977G>A	ENST00000328666.6	-	1	93	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	11	Arg-rich.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCGCTTTGCGCTCGGAGCGG	0.756000													5	39					0	0	0.001984	0	0
ZNF841	284371	broad.mit.edu	37	19	52568907	52568907	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:52568907C>A	ENST00000389534.4	-	7	2687	c.2228G>T	c.(2227-2229)gGg>gTg	p.G743V	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Missense_Mutation_p.G627V|ZNF841_ENST00000594295.1_Missense_Mutation_p.G743V	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AAAGACTTTCCCACATTCAAT	0.393000													7	12					8.12818e-05	9.63624e-05	0.001984	1	0
COL27A1	85301	broad.mit.edu	37	9	116930955	116930955	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:116930955G>T	ENST00000356083.3	+	3	1511	c.1120G>T	c.(1120-1122)Gcc>Tcc	p.A374S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	374	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAAGCCTTCGGCCCCTTCTAC	0.537000													10	99					1.58986e-06	2.03179e-06	0.008291	1	0
GHITM	27069	broad.mit.edu	37	10	85909813	85909813	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:85909813G>T	ENST00000372134.3	+	7	788	c.595G>T	c.(595-597)Gtg>Ttg	p.V199L		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	199					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TTCTCCAGGTGTGATGGGTGC	0.433000													17	62					3.5997e-14	5.19957e-14	0.002299	1	0
NUP98	4928	broad.mit.edu	37	11	3733881	3733881	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:3733881C>G	ENST00000324932.7	-	20	3075	c.2655G>C	c.(2653-2655)aaG>aaC	p.K885N	NUP98_ENST00000397007.4_Missense_Mutation_p.K902N|NUP98_ENST00000359171.4_Missense_Mutation_p.K885N|NUP98_ENST00000355260.3_Missense_Mutation_p.K885N|NUP98_ENST00000397004.4_Missense_Mutation_p.K885N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	902					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCTTCAACTTCTTTGTACTAG	0.478000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								9	109					0	0	0.008291	0	0
C17orf50	146853	broad.mit.edu	37	17	34091593	34091593	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:34091593G>A	ENST00000285023.4	+	3	513	c.481G>A	c.(481-483)Gat>Aat	p.D161N	C17orf50_ENST00000588628.1_Missense_Mutation_p.G168E|C17orf50_ENST00000586491.1_Missense_Mutation_p.G131E	NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	161													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCGTTCTGGATCACCCGGA	0.662000													12	23					0	0	0.003163	0	0
FREM2	341640	broad.mit.edu	37	13	39266294	39266294	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:39266294A>C	ENST00000280481.7	+	1	5029	c.4813A>C	c.(4813-4815)Aaa>Caa	p.K1605Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1605					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AATCAGCTACAAACATGATGG	0.418000													4	67					0	0	0.009096	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378876	55378876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:55378876G>T	ENST00000398661.2	-	6	733	c.602C>A	c.(601-603)tCt>tAt	p.S201Y	HMGCLL1_ENST00000308161.4_Missense_Mutation_p.S139Y|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.S139Y|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.S171Y|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	201							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGTCTTGCAGACTTAACAAC	0.338000													6	32					5.9392e-07	7.69443e-07	0.001168	1	0
MUC4	4585	broad.mit.edu	37	3	195518150	195518150	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:195518150G>C	ENST00000463781.3	-	2	760	c.301C>G	c.(301-303)Ctt>Gtt	p.L101V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L101V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	101					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGAAAAAAGAGTTGATGTC	0.478000													7	75					0	0	0.001984	0	0
ATAD5	79915	broad.mit.edu	37	17	29205039	29205039	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:29205039G>A	ENST00000321990.4	+	17	4315	c.3937G>A	c.(3937-3939)Gaa>Aaa	p.E1313K		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1313					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AATTTTTGATGAAGATGCTGG	0.284000													7	84					0	0	0.001984	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576991	158576991	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:158576991G>C	ENST00000361284.1	+	1	763	c.763G>C	c.(763-765)Gct>Cct	p.A255P		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TTATGGCTGTGCTTCCTTCGT	0.512000													52	223					0	0	0.003610	0	0
ATP1B4	23439	broad.mit.edu	37	X	119513442	119513442	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:119513442G>A	ENST00000218008.3	+	8	1084	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	ATP1B4_ENST00000539306.1_Missense_Mutation_p.D300N|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D339N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	343					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGTCATCAATGATCGTTTTGT	0.453000													6	84					0	0	0.001168	0	0
PKLR	5313	broad.mit.edu	37	1	155264172	155264172	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:155264172C>G	ENST00000392414.3	-	7	990	c.877G>C	c.(877-879)Gat>Cat	p.D293H	PKLR_ENST00000342741.4_Missense_Mutation_p.D324H	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	324			D -> N (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.D324N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGATTTCATCAAACCTGAGA	0.562000													5	48					0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152284856	152284856	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:152284856C>T	ENST00000368799.1	-	3	2541	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	836	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACCATCTTGGGATGCT	0.587000									Ichthyosis				34	555					0	0	0.004878	0	0
ELF4	2000	broad.mit.edu	37	X	129201451	129201451	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:129201451A>C	ENST00000308167.5	-	9	1616	c.1237T>G	c.(1237-1239)Tcg>Gcg	p.S413A	ELF4_ENST00000335997.7_Missense_Mutation_p.S413A	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	413					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCGAGCCCGACCCCACGGGG	0.597000			T	ERG	AML								4	95					0	0	0.009096	0	0
CCBE1	147372	broad.mit.edu	37	18	57103325	57103325	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr18:57103325G>T	ENST00000439986.4	-	11	1073	c.1036C>A	c.(1036-1038)Cgc>Agc	p.R346S	CCBE1_ENST00000398179.2_Missense_Mutation_p.R75S	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	346					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.R346C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ATGTCATTGCGGATGTCAGCC	0.522000													13	118					3.27435e-08	4.39299e-08	0.002450	1	0
ABCG4	64137	broad.mit.edu	37	11	119027683	119027683	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:119027683G>A	ENST00000307417.3	+	9	1391	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000531739.1_Missense_Mutation_p.E343K|ABCG4_ENST00000449422.2_Missense_Mutation_p.E343K	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	343					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAGCAGCCCTGAGAAGAACGA	0.607000													8	104					0	0	0.006214	0	0
OR2G6	391211	broad.mit.edu	37	1	248685329	248685329	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:248685329C>A	ENST00000343414.4	+	1	414	c.382C>A	c.(382-384)Cgg>Agg	p.R128R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGTCTGCCGGCCACTGCG	0.597000													17	57					1.15088e-07	1.50653e-07	0.004007	1	0
JAK1	3716	broad.mit.edu	37	1	65332689	65332689	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:65332689C>T	ENST00000342505.4	-	7	1098	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	284	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCAAATATTTCAGCACCGTAA	0.398000			Mis		ALL								9	100					0	0	0.004482	0	0
INTS3	65123	broad.mit.edu	37	1	153740270	153740270	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:153740270C>T	ENST00000456435.1	+	21	2779	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.L737L|INTS3_ENST00000512605.1_Silent_p.L531L|INTS3_ENST00000318967.2_Silent_p.L737L			Q68E01	INT3_HUMAN	integrator complex subunit 3	738					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGTGCGGCTCCTGTGCCACC	0.592000													7	74					0	0	0.003080	0	0
LZTS1	11178	broad.mit.edu	37	8	20110422	20110422	+	Missense_Mutation	SNP	C	C	A	rs147904321		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:20110422C>A	ENST00000381569.1	-	3	1377	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	LZTS1_ENST00000265801.6_Missense_Mutation_p.Q340H|LZTS1_ENST00000522290.1_Missense_Mutation_p.Q340H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	340					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCCGCTTCTCCTGCTGAAGCT	0.642000													4	32					0.00024832	0.000286289	0.009096	1	0
KDM1B	221656	broad.mit.edu	37	6	18222215	18222215	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:18222215G>A	ENST00000388870.2	+	22	2705	c.2464G>A	c.(2464-2466)Gca>Aca	p.A822T	KDM1B_ENST00000397244.1_Missense_Mutation_p.A590T|KDM1B_ENST00000297792.5_Missense_Mutation_p.A589T|KDM1B_ENST00000546309.2_Missense_Mutation_p.A112T			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	821					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CAAGATTGCAGCATTTTAAGA	0.408000													5	51					0	0	0.000602	0	0
SNX15	29907	broad.mit.edu	37	11	64807160	64807160	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:64807160G>A	ENST00000377244.3	+	8	1055	c.925G>A	c.(925-927)Gac>Aac	p.D309N	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	309	MIT.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CTCCACAGGTGACCCGTTGCC	0.602000													5	14					0	0	0.001168	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528512	6528512	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:6528512G>A	ENST00000377748.1	-	21	3112	c.2615C>T	c.(2614-2616)tCt>tTt	p.S872F	PLEKHG5_ENST00000400915.3_Missense_Mutation_p.S851F|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.S832F|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.S864F|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.S874F|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.S795F	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	851					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCGTGGCAGATGAGGCAGT	0.637000													5	22					0	0	0.001168	0	0
KCNH5	27133	broad.mit.edu	37	14	63174541	63174541	+	Silent	SNP	C	C	A	rs143147156	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:63174541C>A	ENST00000322893.7	-	11	2920	c.2652G>T	c.(2650-2652)ccG>ccT	p.P884P	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	884					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTGCTCTAGCGGACTTCGGG	0.502000													16	100					4.7546e-09	6.44779e-09	0.004007	1	0
TCF20	6942	broad.mit.edu	37	22	42605678	42605678	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr22:42605678C>A	ENST00000359486.3	-	1	5770	c.5634G>T	c.(5632-5634)gcG>gcT	p.A1878A	TCF20_ENST00000404876.1_Silent_p.A179A|TCF20_ENST00000335626.4_Silent_p.A1878A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1878					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTATTTCCAGCGCTTCCTGCA	0.433000													5	116					3.59834e-05	4.3341e-05	0.001168	1	0
CSNK2A1	1457	broad.mit.edu	37	20	485802	485802	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:485802T>C	ENST00000217244.3	-	4	548	c.173A>G	c.(172-174)aAc>aGc	p.N58S	CSNK2A1_ENST00000400217.1_5'UTR|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.N58S|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.N58S	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	58	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATTTGTGATGTTGATGGCTTC	0.313000													5	28					0	0	0.001168	0	0
TAGAP	117289	broad.mit.edu	37	6	159456967	159456967	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:159456967G>T	ENST00000367066.3	-	10	2419	c.2088C>A	c.(2086-2088)acC>acA	p.T696T	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.T518T	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	696					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACTCGGAGACGGTCCTCAGCG	0.582000													10	38					2.17888e-05	2.6498e-05	0.006214	1	0
CPNE4	131034	broad.mit.edu	37	3	131388587	131388587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:131388587G>A	ENST00000512055.1	-	11	2739	c.613C>T	c.(613-615)Cca>Tca	p.P205S	CPNE4_ENST00000512332.1_Missense_Mutation_p.P223S|CPNE4_ENST00000429747.1_Missense_Mutation_p.P205S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P223S|CPNE4_ENST00000511604.1_Missense_Mutation_p.P205S			Q96A23	CPNE4_HUMAN	copine IV	205	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTCCAGGCTGGGCTTAAGTTA	0.428000													6	80					0	0	0.001168	0	0
CNR1	1268	broad.mit.edu	37	6	88854258	88854258	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:88854258C>T	ENST00000537554.1	-	2	4298	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	CNR1_ENST00000549890.1_Missense_Mutation_p.V246M|CNR1_ENST00000369499.2_Missense_Mutation_p.V246M|CNR1_ENST00000369501.2_Missense_Mutation_p.V246M|CNR1_ENST00000549716.1_Missense_Mutation_p.V185M|CNR1_ENST00000468898.1_Missense_Mutation_p.V213M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.V246M|CNR1_ENST00000535130.1_Missense_Mutation_p.V246M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	246				V -> A (in Ref. 5; AAD34320).	G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACGGCGATCACAATGGCTATG	0.527000													7	57					0	0	0.003080	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48132935	48132935	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:48132935G>A	ENST00000405493.2	-	24	2535	c.2326C>T	c.(2326-2328)Ctt>Ttt	p.L776F	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L776F|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.L818F|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L709F|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L818F|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L776F	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	776					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCTTTGAGAAGAAGGGGCATG	0.602000													6	28					0	0	0.003080	0	0
CLCN3	1182	broad.mit.edu	37	4	170613428	170613428	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:170613428A>G	ENST00000513761.1	+	7	1452	c.893A>G	c.(892-894)tAc>tGc	p.Y298C	CLCN3_ENST00000504131.2_Missense_Mutation_p.Y281C|CLCN3_ENST00000347613.4_Missense_Mutation_p.Y298C|CLCN3_ENST00000360642.3_Missense_Mutation_p.Y298C	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	298					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATCTTTTCCTACCTCTTTCCA	0.358000													8	107					0	0	0.003080	0	0
HELZ	9931	broad.mit.edu	37	17	65103325	65103325	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:65103325G>C	ENST00000358691.5	-	31	5367	c.5201C>G	c.(5200-5202)tCt>tGt	p.S1734C	HELZ_ENST00000580168.1_Missense_Mutation_p.S1735C	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TACTGTTCGAGATGACAATGG	0.398000													7	147					0	0	0.001984	0	0
DLG1	1739	broad.mit.edu	37	3	196831852	196831852	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:196831852C>A	ENST00000346964.2	-	15	1756	c.1567G>T	c.(1567-1569)Gct>Tct	p.A523S	DLG1_ENST00000422288.1_Missense_Mutation_p.A472S|DLG1_ENST00000419354.1_Missense_Mutation_p.A523S|DLG1_ENST00000452595.1_Missense_Mutation_p.A407S|DLG1_ENST00000392382.2_Missense_Mutation_p.A490S|DLG1_ENST00000450955.1_Missense_Mutation_p.A490S|DLG1_ENST00000314062.3_Missense_Mutation_p.A472S|DLG1_ENST00000448528.2_Missense_Mutation_p.A523S|DLG1_ENST00000357674.4_Missense_Mutation_p.A490S|DLG1_ENST00000443183.1_Missense_Mutation_p.A407S	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	523	PDZ 3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCATGACTAGCAGCTCTGAGG	0.388000													4	47					0.00909568	0.00985365	0.009096	1	0
LRP1B	53353	broad.mit.edu	37	2	141680548	141680548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:141680548G>T	ENST00000389484.3	-	21	4276	c.3305C>A	c.(3304-3306)tCc>tAc	p.S1102Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1102	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTCCAACAGGAAAACTTGGT	0.443000										TSP Lung(27;0.18)			7	40					5.18039e-06	6.44557e-06	0.003080	1	0
AFF2	2334	broad.mit.edu	37	X	148037467	148037467	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:148037467C>A	ENST00000370460.2	+	11	2371	c.1892C>A	c.(1891-1893)cCc>cAc	p.P631H	AFF2_ENST00000370457.5_Missense_Mutation_p.P598H|AFF2_ENST00000286437.5_Missense_Mutation_p.P272H|AFF2_ENST00000342251.3_Missense_Mutation_p.P598H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	631					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAAACAGCCCAAAAAAGTT	0.433000													15	134					0.00244969	0.00273235	0.002450	1	0
ESRRB	2103	broad.mit.edu	37	14	76948464	76948464	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:76948464A>T	ENST00000380887.2	+	4	692	c.620A>T	c.(619-621)aAg>aTg	p.K207M	ESRRB_ENST00000556177.1_Missense_Mutation_p.K207M|ESRRB_ENST00000261532.7_Missense_Mutation_p.K207M|ESRRB_ENST00000509242.1_Missense_Mutation_p.K207M|ESRRB_ENST00000507951.1_3'UTR			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	207						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCTGCTAAAAAGCCATGTGAG	0.542000													5	42					0	0	0.000602	0	0
MEGF8	1954	broad.mit.edu	37	19	42853690	42853690	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:42853690A>C	ENST00000334370.4	+	13	2772	c.2137A>C	c.(2137-2139)Acg>Ccg	p.T713P	MEGF8_ENST00000251268.6_Missense_Mutation_p.T780P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	780						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGAGAAGGAGACGCGGCGGCT	0.647000													5	27					0	0	0.001168	0	0
ASXL2	55252	broad.mit.edu	37	2	25966745	25966745	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:25966745G>A	ENST00000435504.4	-	13	2754	c.2461C>T	c.(2461-2463)Cca>Tca	p.P821S	ASXL2_ENST00000336112.4_Missense_Mutation_p.P793S|ASXL2_ENST00000272341.4_Missense_Mutation_p.P561S|ASXL2_ENST00000404843.1_Missense_Mutation_p.P561S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCTTGTGGATGGCTGACA	0.522000													16	199					0	0	0.004007	0	0
KRT7	3855	broad.mit.edu	37	12	52635264	52635264	+	Silent	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:52635264A>T	ENST00000331817.5	+	5	885	c.702A>T	c.(700-702)acA>acT	p.T234T		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	234	Coil 1B.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		AGGAGTTGACAGAGCTGCAGT	0.577000													4	64					0	0	0.001168	0	0
TM7SF2	7108	broad.mit.edu	37	11	64883032	64883032	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:64883032G>C	ENST00000279263.7	+	9	1220	c.1058G>C	c.(1057-1059)gGa>gCa	p.G353A	TM7SF2_ENST00000540748.1_Missense_Mutation_p.G237A|TM7SF2_ENST00000345348.5_Missense_Mutation_p.G326A	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	353					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AACTATCTTGGAGACCTCATC	0.592000													3	50					0	0	0.004672	0	0
ZBTB12	221527	broad.mit.edu	37	6	31869005	31869005	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:31869005G>A	ENST00000375527.2	-	2	253	c.78C>T	c.(76-78)ctC>ctT	p.L26L	C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CCTCTGCCCGGAGCTGGTTCA	0.657000													4	36					0	0	0.009096	0	0
MID2	11043	broad.mit.edu	37	X	107160843	107160843	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:107160843C>A	ENST00000262843.6	+	7	1857	c.1309C>A	c.(1309-1311)Cag>Aag	p.Q437K	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.Q437K	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	437	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTATGAGCTTCAGTACACCAT	0.488000													18	274					3.52763e-06	4.43306e-06	0.004990	1	0
SNHG14	104472715	broad.mit.edu	37	15	25425721	25425721	+	RNA	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:25425721G>A	ENST00000441592.2	+	0	575				SNORD115-6_ENST00000363942.1_RNA																							ATTACGCTGAGGCCCAGCCTA	0.502000													8	273					0	0	0.010729	0	0
CADPS2	93664	broad.mit.edu	37	7	122131426	122131426	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:122131426C>T	ENST00000334010.7	-	10	2012	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	CADPS2_ENST00000412584.2_Missense_Mutation_p.E531K|CADPS2_ENST00000449022.2_Missense_Mutation_p.E531K|CADPS2_ENST00000313070.7_Missense_Mutation_p.E531K	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	531	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTGTGGTTCAGACTTCTTT	0.353000													3	6					0	0	0.004672	0	0
HYOU1	10525	broad.mit.edu	37	11	118925964	118925964	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:118925964C>A	ENST00000404233.3	-	5	476	c.352G>T	c.(352-354)Gcc>Tcc	p.A118S	HYOU1_ENST00000525859.1_Missense_Mutation_p.A118S|HYOU1_ENST00000529972.1_Missense_Mutation_p.A118S|HYOU1_ENST00000543287.1_Missense_Mutation_p.A31S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	118						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGGAAGCGGGCCTGGTAAAGA	0.567000													16	102					8.60227e-14	1.23781e-13	0.004007	1	0
MAML1	9794	broad.mit.edu	37	5	179192956	179192956	+	Silent	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:179192956A>G	ENST00000292599.3	+	2	1208	c.945A>G	c.(943-945)ccA>ccG	p.P315P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	315					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGCTCTCCACAAGTGAGGG	0.552000													4	64					0	0	0.009096	0	0
DBF4B	80174	broad.mit.edu	37	17	42818707	42818707	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:42818707G>C	ENST00000315005.3	+	10	855	c.717G>C	c.(715-717)aaG>aaC	p.K239N	DBF4B_ENST00000398338.3_Intron|DBF4B_ENST00000393547.2_Missense_Mutation_p.K239N	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	239					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTTGCAGGAAGTTTCGTCCTT	0.493000													9	94					0	0	0.010729	0	0
TRIB1	10221	broad.mit.edu	37	8	126448348	126448348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:126448348G>T	ENST00000311922.3	+	3	1336	c.754G>T	c.(754-756)Gag>Tag	p.E252*	TRIB1_ENST00000520847.1_Nonsense_Mutation_p.E86*|TRIB1_ENST00000519576.1_Nonsense_Mutation_p.E21*	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	252	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CGTGAGCCCTGAGATCCTCAA	0.532000													5	62					1.23904e-05	1.53153e-05	0.000602	1	0
SPATA32	124783	broad.mit.edu	37	17	43333147	43333147	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:43333147C>G	ENST00000543122.1	-	6	1120	c.339G>C	c.(337-339)cgG>cgC	p.R113R	SPATA32_ENST00000331780.4_Silent_p.R134R|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA					spermatogenesis associated 32																		CCGTGAAACTCCGGCAGTTTG	0.567000													6	107					0	0	0.001168	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622209	234622209	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:234622209C>G	ENST00000373414.3	+	1	572	c.572C>G	c.(571-573)tCc>tGc	p.S191C	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CCAAACCCTTCCTCCTATATT	0.478000													14	201					0	0	0.001855	0	0
MUC4	4585	broad.mit.edu	37	3	195516687	195516687	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:195516687C>T	ENST00000463781.3	-	2	2223	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.Q588Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	593					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTTTTATCATCTGAGTCACAC	0.488000													25	335					0	0	0.005443	0	0
TARS2	80222	broad.mit.edu	37	1	150477190	150477190	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:150477190G>A	ENST00000369064.3	+	15	1835	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	TARS2_ENST00000606933.1_Missense_Mutation_p.E519K|TARS2_ENST00000369054.2_Missense_Mutation_p.E471K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	601					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGTGCTGGCAGAAAGCTGCGG	0.567000													8	153					0	0	0.003080	0	0
C10orf53	282966	broad.mit.edu	37	10	50916560	50916560	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:50916560G>A	ENST00000374112.3	+	3	383	c.371G>A	c.(370-372)gGa>gAa	p.G124E	C10orf53_ENST00000535836.1_Missense_Mutation_p.G124E	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				gcccagattggatcatgtatc	0.488000													19	181					0	0	0.007413	0	0
DIS3L	115752	broad.mit.edu	37	15	66621441	66621441	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:66621441G>A	ENST00000319194.5	+	13	2347	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	DIS3L_ENST00000319212.4_Missense_Mutation_p.E779K|RP11-352G18.2_ENST00000565993.1_RNA	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	779					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCCTGTGCGGAGGAGGAGTT	0.468000													5	61					0	0	0.000602	0	0
CFB	629	broad.mit.edu	37	6	31911243	31911243	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:31911243C>G	ENST00000556679.1	+	9	1102	c.1047C>G	c.(1045-1047)gtC>gtG	p.V349V	C2_ENST00000299367.5_Silent_p.V502V|CFB_ENST00000477310.1_Silent_p.V273V|C2_ENST00000452323.2_Silent_p.V288V|C2_ENST00000442278.2_Silent_p.V370V|CFB_ENST00000456570.1_Silent_p.V349V|C2_ENST00000469372.1_Silent_p.V256V			P00751	CFAB_HUMAN	complement factor B	521	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCAATGGGTCCTGACAGCAG	0.597000													11	156					0	0	0.001855	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472433	69472433	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:69472433C>G	ENST00000303714.4	+	18	1833	c.1511C>G	c.(1510-1512)tCc>tGc	p.S504C		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	504					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TACCACAcctcctcgccgcct	0.642000									Familial Infantile Hemangioma				3	53					0	0	0.009096	0	0
INSRR	3645	broad.mit.edu	37	1	156823675	156823675	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:156823675C>G	ENST00000368195.3	-	2	902	c.506G>C	c.(505-507)gGc>gCc	p.G169A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	169					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCTTGTTGCCCACGATGTG	0.637000													11	29					0	0	0.010729	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403713	47403713	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:47403713G>T	ENST00000310638.4	-	2	323	c.292C>A	c.(292-294)Cag>Aag	p.Q98K	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q98K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q98K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	98					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCATAGAGCTGGACACGAACT	0.517000													10	86					2.17888e-05	2.6498e-05	0.006214	1	0
GNA12	2768	broad.mit.edu	37	7	2771079	2771079	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:2771079G>A	ENST00000275364.3	-	4	1044	c.882C>T	c.(880-882)ttC>ttT	p.F294F	GNA12_ENST00000407904.3_Silent_p.F235F|GNA12_ENST00000544127.1_Silent_p.F201F|GNA12_ENST00000491117.1_5'UTR|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Silent_p.F218F|GNA12_ENST00000396960.3_Silent_p.F146F	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	294					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TCTTGTTGAGGAAGAGAATGA	0.557000													6	64					0	0	0.001168	0	0
LIPC	3990	broad.mit.edu	37	15	58853108	58853108	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:58853108C>G	ENST00000414170.3	+	8	1384	c.1097C>G	c.(1096-1098)aCa>aGa	p.T366R	LIPC_ENST00000299022.5_Missense_Mutation_p.T366R|LIPC_ENST00000433326.2_Missense_Mutation_p.T305R|LIPC_ENST00000356113.6_Missense_Mutation_p.T366R			P11150	LIPC_HUMAN	lipase, hepatic	366	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.T366K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAAACTGAGACACCAATACAA	0.393000													3	40					0	0	0.004672	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632712	122632712	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:122632712C>T	ENST00000195173.4	-	15	2428	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	SEMA5B_ENST00000451055.2_Missense_Mutation_p.E763K|SEMA5B_ENST00000357599.3_Missense_Mutation_p.E709K			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	709	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CACCGTTCCTCCCGGCTCTTG	0.662000													8	95					0	0	0.008291	0	0
TTLL4	9654	broad.mit.edu	37	2	219602948	219602948	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:219602948C>G	ENST00000392102.1	+	3	889	c.549C>G	c.(547-549)ctC>ctG	p.L183L	TTLL4_ENST00000442769.1_Silent_p.L183L|TTLL4_ENST00000457313.1_Silent_p.L18L|TTLL4_ENST00000258398.4_Silent_p.L183L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	183					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AACCATACCTCTGCTTGGCAG	0.567000													6	113					0	0	0.001168	0	0
PLG	5340	broad.mit.edu	37	6	161127552	161127552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:161127552G>T	ENST00000308192.9	+	2	226	c.163G>T	c.(163-165)Gag>Tag	p.E55*	PLG_ENST00000366924.2_Nonsense_Mutation_p.E55*|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	55	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAAATGTGAGGAGGACGAAGA	0.428000													18	99					1.01871e-10	1.41197e-10	0.008871	1	0
GPR112	139378	broad.mit.edu	37	X	135426905	135426905	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:135426905C>A	ENST00000394143.1	+	6	1331	c.1040C>A	c.(1039-1041)tCt>tAt	p.S347Y	GPR112_ENST00000287534.4_Missense_Mutation_p.S284Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S142Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S347Y|GPR112_ENST00000412101.1_Missense_Mutation_p.S142Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	347					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAATCTCCATCTTCAGAAAGC	0.393000													6	47					0.00116845	0.00130713	0.001168	1	0
ZNF592	9640	broad.mit.edu	37	15	85345225	85345225	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:85345225G>A	ENST00000299927.3	+	8	3427	c.3405G>A	c.(3403-3405)tcG>tcA	p.S1135S	ZNF592_ENST00000560079.2_Silent_p.S1135S			Q92610	ZN592_HUMAN	zinc finger protein 592	1135					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACAGACTCGGGGCTCGAGT	0.562000													5	43					0	0	0.000602	0	0
SPINK5	11005	broad.mit.edu	37	5	147473998	147473998	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:147473998G>C	ENST00000359874.3	+	9	821	c.748G>C	c.(748-750)Gac>Cac	p.D250H	SPINK5_ENST00000256084.7_Missense_Mutation_p.D250H|SPINK5_ENST00000398454.1_Missense_Mutation_p.D250H|SPINK5_ENST00000476608.1_3'UTR	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	250	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGGCCCTGACGGCAGGAT	0.423000													4	94					0	0	0.000602	0	0
CHIT1	1118	broad.mit.edu	37	1	203186907	203186907	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:203186907C>T	ENST00000367229.1	-	10	1150	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	CHIT1_ENST00000255427.3_Silent_p.Q353Q|CHIT1_ENST00000535569.1_Silent_p.Q363Q|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	372					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGTATCGGCCCTGGTTGCAGG	0.597000													4	61					0	0	0.000602	0	0
CACNA1S	779	broad.mit.edu	37	1	201009787	201009787	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:201009787G>T	ENST00000362061.3	-	42	5415	c.5189C>A	c.(5188-5190)gCa>gAa	p.A1730E	CACNA1S_ENST00000367338.3_Missense_Mutation_p.A1711E|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1730					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCTGGGCATTGCCCTCTGGGT	0.607000													10	61					2.68362e-12	3.81783e-12	0.001368	1	0
KCNA4	3739	broad.mit.edu	37	11	30033840	30033840	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:30033840T>G	ENST00000328224.6	-	2	1619	c.386A>C	c.(385-387)gAg>gCg	p.E129A		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	129	Poly-Glu.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ttcctcctcctcctcatcttc	0.547000													6	41					0	0	0.001168	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895869	24895869	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:24895869C>A	ENST00000382071.2	+	4	1050	c.965C>A	c.(964-966)aCa>aAa	p.T322K	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.T322K			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	322	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GACGATGACACAACTTTCACA	0.517000													16	172					0.000422831	0.000484521	0.004007	1	0
COL2A1	1280	broad.mit.edu	37	12	48372469	48372469	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:48372469C>T	ENST00000380518.3	-	42	2970	c.2806G>A	c.(2806-2808)Ggc>Agc	p.G936S	COL2A1_ENST00000337299.6_Missense_Mutation_p.G867S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	936	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAGGGGGGCCGCTGTCTCCT	0.637000													6	33					0	0	0.001984	0	0
EIF6	3692	broad.mit.edu	37	20	33867912	33867912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:33867912C>T	ENST00000374450.3	-	5	643	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	EIF6_ENST00000374443.3_Missense_Mutation_p.E108K|EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374436.3_Missense_Mutation_p.E127K	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	127					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCAGAATTTCTTCTGTCTCC	0.517000													6	156					0	0	0.001168	0	0
P2RY10	27334	broad.mit.edu	37	X	78216469	78216469	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:78216469G>C	ENST00000171757.2	+	4	732	c.452G>C	c.(451-453)gGc>gCc	p.G151A	P2RY10_ENST00000544091.1_Missense_Mutation_p.G151A|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	151						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TACGATGTGGGCATCAGTGCT	0.498000													23	71					0	0	0.012319	0	0
SV2C	22987	broad.mit.edu	37	5	75427941	75427941	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:75427941G>C	ENST00000502798.2	+	2	808	c.366G>C	c.(364-366)gaG>gaC	p.E122D	SV2C_ENST00000322285.7_Missense_Mutation_p.E122D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	122					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ACCGGCGGGAGCTGGAATCAG	0.547000													8	52					0	0	0.004482	0	0
ADCK1	57143	broad.mit.edu	37	14	78353523	78353523	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:78353523G>T	ENST00000238561.5	+	5	612	c.513G>T	c.(511-513)cgG>cgT	p.R171R	ADCK1_ENST00000341211.5_Silent_p.R103R	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	178	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATGATGGGCGGACGGTGGCCG	0.607000													8	98					0.000157383	0.000183695	0.003080	1	0
TRIML1	339976	broad.mit.edu	37	4	189068192	189068192	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:189068192G>T	ENST00000332517.3	+	6	1213	c.1073G>T	c.(1072-1074)tGc>tTc	p.C358F	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	358	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGGGCATCTGCAAGGACTCT	0.537000													9	66					0.000274275	0.000315249	0.004482	1	0
MGLL	11343	broad.mit.edu	37	3	127439934	127439934	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:127439934G>A	ENST00000434178.2	-	5	1338	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	MGLL_ENST00000398104.1_Silent_p.L148L|MGLL_ENST00000453507.2_Silent_p.L158L|MGLL_ENST00000398101.3_Silent_p.L122L|MGLL_ENST00000265052.5_Silent_p.L158L			Q99685	MGLL_HUMAN	monoglyceride lipase	148					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	p.L148L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCAAGAACCAGAGGCGAAATG	0.552000													6	48					0	0	0.001984	0	0
BTBD10	84280	broad.mit.edu	37	11	13435091	13435091	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:13435091T>G	ENST00000278174.5	-	6	1039	c.794A>C	c.(793-795)aAa>aCa	p.K265T	BTBD10_ENST00000528120.1_Missense_Mutation_p.K217T|BTBD10_ENST00000530907.1_Missense_Mutation_p.K273T	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	265						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATCTCTACATTTAATAGTGCT	0.323000													3	44					0	0	0.009096	0	0
TRIP13	9319	broad.mit.edu	37	5	908512	908512	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:908512A>T	ENST00000166345.3	+	9	1158	c.802A>T	c.(802-804)Acc>Tcc	p.T268S		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	268					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CAGGGCGGGCACCGAGCCATC	0.557000													8	59					0	0	0.003080	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691969	31691969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr21:31691969G>T	ENST00000360542.3	-	1	638	c.385C>A	c.(385-387)Ctc>Atc	p.L129I		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	129						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TAACTATTGAGCAGCGGCCTC	0.537000													29	156					1.39806e-14	2.02718e-14	0.008361	1	0
RBFOX1	54715	broad.mit.edu	37	16	7383027	7383027	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:7383027C>T	ENST00000355637.4	+	1	277	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	RBFOX1_ENST00000311745.5_Silent_p.L9L|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000436368.2_Silent_p.L9L	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	0					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGGAGTTCTCCTGCATCCTTA	0.483000													7	101					0	0	0.003080	0	0
GPR176	11245	broad.mit.edu	37	15	40093561	40093561	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:40093561C>T	ENST00000299092.3	-	4	1515	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	GPR176_ENST00000561100.1_Silent_p.V440V|GPR176_ENST00000543580.1_Silent_p.V395V	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	440					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TTTCAGGTTCCACAGGGGCTG	0.592000													6	142					0	0	0.001168	0	0
C17orf47	284083	broad.mit.edu	37	17	56621265	56621265	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:56621265C>G	ENST00000321691.3	-	1	464	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	95										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGGATGATTCTGTTCTTGGT	0.537000													5	55					0	0	0.000602	0	0
PACS1	55690	broad.mit.edu	37	11	65983614	65983614	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:65983614G>T	ENST00000320580.4	+	5	718	c.685G>T	c.(685-687)Gca>Tca	p.A229S		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	229					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TAATGAAGGCGCACTGGTGCT	0.537000													13	58					2.61681e-11	3.66743e-11	0.002450	1	0
GPRIN1	114787	broad.mit.edu	37	5	176025501	176025501	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:176025501C>A	ENST00000303991.4	-	2	1512	c.1335G>T	c.(1333-1335)gtG>gtT	p.V445V		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	445						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCTTTCCCACAGACACAC	0.532000													11	97					0.00010058	0.000118496	0.001368	1	0
CRTAM	56253	broad.mit.edu	37	11	122738175	122738175	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:122738175G>T	ENST00000227348.4	+	8	923	c.876G>T	c.(874-876)acG>acT	p.T292T	CRTAM_ENST00000533709.1_Silent_p.T93T	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	292					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGCTGCTCACGCTGGTGTCCT	0.418000													3	20					0.004672	0.00515013	0.004672	1	0
OR2T2	401992	broad.mit.edu	37	1	248616344	248616344	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:248616344G>T	ENST00000342927.3	+	1	268	c.246G>T	c.(244-246)atG>atT	p.M82I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M82I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCCAAGATGCTCCAGGACC	0.527000													11	200					6.31663e-08	8.35568e-08	0.003163	1	0
NGEF	25791	broad.mit.edu	37	2	233745891	233745891	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:233745891G>T	ENST00000264051.3	-	14	2185	c.1907C>A	c.(1906-1908)gCc>gAc	p.A636D	NGEF_ENST00000539537.1_Missense_Mutation_p.A359D|NGEF_ENST00000373552.4_Missense_Mutation_p.A544D	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	636	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGATGTCGGCGAGCTCCAG	0.662000													13	73					2.61681e-11	3.66743e-11	0.002450	1	0
LOXL1	4016	broad.mit.edu	37	15	74219600	74219600	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:74219600C>G	ENST00000261921.7	+	1	802	c.476C>G	c.(475-477)tCg>tGg	p.S159W	LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	159					protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCTCGGTCTCGGCTTCGGCC	0.711000													7	76					0	0	0.003080	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655756	40655756	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:40655756G>T	ENST00000406785.1	-	2	1854	c.1665C>A	c.(1663-1665)atC>atA	p.I555I	SLC8A1_ENST00000403092.1_Silent_p.I555I|SLC8A1_ENST00000406391.2_Silent_p.I555I|SLC8A1_ENST00000405269.1_Silent_p.I555I|SLC8A1_ENST00000405901.3_Silent_p.I555I|SLC8A1_ENST00000402441.1_Silent_p.I555I|SLC8A1_ENST00000332839.4_Silent_p.I555I|SLC8A1_ENST00000542024.1_Silent_p.I555I|SLC8A1_ENST00000542756.1_Silent_p.I555I|SLC8A1_ENST00000408028.2_Silent_p.I555I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	555	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACCTCCATGATGCCAATGC	0.458000													9	97					2.17888e-05	2.6498e-05	0.006214	1	0
LRP1	4035	broad.mit.edu	37	12	57590912	57590912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:57590912C>T	ENST00000243077.3	+	56	9506	c.9040C>T	c.(9040-9042)Cgc>Tgc	p.R3014C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3014	EGF-like 12; calcium-binding (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTATGCACCCCGCGGCGGCGA	0.637000													9	72					0	0	0.004482	0	0
SEC14L5	9717	broad.mit.edu	37	16	5038216	5038216	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:5038216C>G	ENST00000251170.7	+	4	460	c.280C>G	c.(280-282)Ctc>Gtc	p.L94V		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	94	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GAGGACGCTCCTCATCGAAGC	0.632000													5	38					0	0	0.000602	0	0
KIF19	124602	broad.mit.edu	37	17	72350304	72350304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:72350304G>A	ENST00000389916.4	+	18	2450	c.2312G>A	c.(2311-2313)aGg>aAg	p.R771K		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	771					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCTGCAGAGAGGAAGGAGATC	0.662000													5	84					0	0	0.000602	0	0
OR5J2	282775	broad.mit.edu	37	11	55944298	55944298	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:55944298G>T	ENST00000312298.1	+	1	205	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TCTTTCATTTGTGGATGCCTG	0.443000													10	147					0.000442599	0.000504109	0.006214	1	0
HUWE1	10075	broad.mit.edu	37	X	53616620	53616620	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:53616620G>T	ENST00000342160.3	-	35	4805	c.4348C>A	c.(4348-4350)Ctt>Att	p.L1450I	HUWE1_ENST00000262854.6_Missense_Mutation_p.L1450I|HUWE1_ENST00000218328.8_Missense_Mutation_p.L1450I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1450					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCATCAAGAAGGTGGAAGCAG	0.468000													9	93					0.00448238	0.00497017	0.004482	1	0
ATF2	1386	broad.mit.edu	37	2	175957959	175957959	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:175957959T>C	ENST00000264110.2	-	12	1313	c.1015A>G	c.(1015-1017)Aca>Gca	p.T339A	ATF2_ENST00000409635.1_Missense_Mutation_p.T281A|ATF2_ENST00000392544.1_Missense_Mutation_p.T339A|ATF2_ENST00000409437.1_Missense_Mutation_p.T223A|ATF2_ENST00000345739.5_Missense_Mutation_p.T281A|ATF2_ENST00000538946.1_Missense_Mutation_p.T321A|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000426833.3_Missense_Mutation_p.T321A	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	339					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CGACCACTTGTACTTTGGGTC	0.413000													4	32					0	0	0.009096	0	0
GABRE	2564	broad.mit.edu	37	X	151128375	151128375	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:151128375C>A	ENST00000370325.1	-	6	773	c.720G>T	c.(718-720)tgG>tgT	p.W240C	GABRE_ENST00000370328.3_Missense_Mutation_p.W240C|GABRE_ENST00000393914.3_Missense_Mutation_p.W47C			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	240					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGAGCTTCCAGGAGTTCT	0.443000													8	81					0.000157383	0.000183695	0.003080	1	0
ZNF518B	85460	broad.mit.edu	37	4	10447569	10447569	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:10447569C>G	ENST00000326756.3	-	3	822	c.384G>C	c.(382-384)agG>agC	p.R128S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCTTAAAGTTCCTTACCTTAA	0.373000													7	86					0	0	0.001984	0	0
SLIT2	9353	broad.mit.edu	37	4	20525659	20525659	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:20525659A>G	ENST00000504154.1	+	14	1549	c.1297A>G	c.(1297-1299)Att>Gtt	p.I433V	SLIT2_ENST00000273739.5_Missense_Mutation_p.I437V|SLIT2_ENST00000503823.1_Missense_Mutation_p.I433V|SLIT2_ENST00000503837.1_Missense_Mutation_p.I437V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	433	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAACCCCTTTATTTGTGACTG	0.488000													6	146					0	0	0.003080	0	0
AC015849.16	0	broad.mit.edu	37	17	34236567	34236567	+	RNA	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:34236567G>A	ENST00000587132.1	-	0	1460																											CTGGAGTGATGATAAACCCCA	0.473000													6	33					0	0	0.001168	0	0
SH3TC2	79628	broad.mit.edu	37	5	148411177	148411177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:148411177C>G	ENST00000515425.1	-	9	1176	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E352Q|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E244Q|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	359							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAACACTCAGTCTGCTTA	0.537000													6	39					0	0	0.001168	0	0
ZNF41	7592	broad.mit.edu	37	X	47306910	47306910	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:47306910C>G	ENST00000377065.4	-	5	2898	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	ZNF41_ENST00000313116.7_Missense_Mutation_p.Q753H|ZNF41_ENST00000397050.2_Missense_Mutation_p.Q763H	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	795						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TAAAGGCCTTCTGACATTCTG	0.383000													13	70					0	0	0.001368	0	0
SMARCA1	6594	broad.mit.edu	37	X	128599538	128599538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:128599538G>A	ENST00000371122.4	-	23	3118	c.2989C>T	c.(2989-2991)Cag>Tag	p.Q997*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q985*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q985*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	997	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						AATCTAAACTGGGGAGCATTT	0.343000													5	66					0	0	0.000602	0	0
ATP13A5	344905	broad.mit.edu	37	3	193068888	193068888	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:193068888A>T	ENST00000342358.4	-	7	826	c.709T>A	c.(709-711)Tcc>Acc	p.S237T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	237					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGACAATGGAGATAACAGTC	0.388000													5	22					0	0	0.000602	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													4	52					0	0	0.009096	0	0
IFI6	2537	broad.mit.edu	37	1	27992960	27992960	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:27992960C>G	ENST00000361157.6	-	5	452	c.325G>C	c.(325-327)Ggt>Cgt	p.G109R	IFI6_ENST00000339145.4_Missense_Mutation_p.G117R|IFI6_ENST00000362020.4_Missense_Mutation_p.G113R	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	109					anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding			lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCAATATTACCTATGACGACG	0.537000													6	44					0	0	0.003080	0	0
OR4E2	26686	broad.mit.edu	37	14	22133768	22133768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:22133768G>T	ENST00000408935.1	+	1	472	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G158W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCACTCACTAGGGCAGACCTT	0.488000													15	114					2.32078e-09	3.18158e-09	0.003163	1	0
CLPB	81570	broad.mit.edu	37	11	72145270	72145270	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:72145270G>C	ENST00000437826.2	-	1	156	c.7C>G	c.(7-9)Cgc>Ggc	p.R3G	CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000538039.1_Silent_p.L83L|CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000294053.3_Silent_p.L83L			Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	0					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCAGCCGCGAGGCATTTGG	0.692000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	69					0	0	0.006214	0	0
EPPK1	83481	broad.mit.edu	37	8	144945369	144945369	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:144945369C>G	ENST00000525985.1	-	2	2124	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q				P58107	EPIPL_HUMAN	epiplakin 1	685						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCGCGCTCAGCCGACAGC	0.612000													6	50					0	0	0.001168	0	0
FSD2	123722	broad.mit.edu	37	15	83456108	83456108	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:83456108T>G	ENST00000334574.8	-	2	216	c.35A>C	c.(34-36)gAc>gCc	p.D12A	FSD2_ENST00000541889.1_Missense_Mutation_p.D12A			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	12										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGTAGACCTGTCCAGCCCCAG	0.468000													6	64					0	0	0.001168	0	0
PTPRA	5786	broad.mit.edu	37	20	3005234	3005234	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:3005234G>A	ENST00000216877.6	+	16	1954	c.1554G>A	c.(1552-1554)ggG>ggA	p.G518G	PTPRA_ENST00000425918.2_Silent_p.G538G|PTPRA_ENST00000380393.3_Silent_p.G527G|PTPRA_ENST00000356147.3_Silent_p.G518G|PTPRA_ENST00000318266.5_Silent_p.G518G|PTPRA_ENST00000399903.2_Silent_p.G527G|PTPRA_ENST00000358719.4_Silent_p.G383G	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	527					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAATCCCAGGGACCAGCAACA	0.453000													7	121					0	0	0.001984	0	0
RHEBL1	121268	broad.mit.edu	37	12	49460259	49460259	+	Splice_Site	SNP	C	C	T	rs148047837		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:49460259C>T	ENST00000301068.6	-	5	571	c.332_splice	c.e5+1	p.R111_splice		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	111					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						GGCCACTTACCGGGTTTTCCC	0.483000													14	457					0	0	0.004007	0	0
PCNXL2	80003	broad.mit.edu	37	1	233161085	233161085	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:233161085C>A	ENST00000258229.8	-	26	4646	c.4412G>T	c.(4411-4413)gGc>gTc	p.G1471V	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G123V	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1471						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAGCAGCAGCCTCTGTCCTC	0.587000											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	81					0.000442599	0.000504109	0.006214	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													3	6					0	0	0.004672	0	0
TECTA	7007	broad.mit.edu	37	11	121032845	121032845	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:121032845G>T	ENST00000392793.1	+	16	5309	c.5038G>T	c.(5038-5040)Gtg>Ttg	p.V1680L	TECTA_ENST00000264037.2_Missense_Mutation_p.V1680L			O75443	TECTA_HUMAN	tectorin alpha	1680	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGTGACAATGTGCACATCCA	0.537000													10	93					2.17888e-05	2.6498e-05	0.006214	1	0
VSIG4	11326	broad.mit.edu	37	X	65253491	65253491	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:65253491C>T	ENST00000455586.2	-	2	363	c.237G>A	c.(235-237)caG>caA	p.Q79Q	VSIG4_ENST00000374737.4_Silent_p.Q79Q|VSIG4_ENST00000412866.2_Silent_p.Q79Q	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	79	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTACTTTGCCTGCTGGATAT	0.547000													13	101					0	0	0.001855	0	0
SCN3A	6328	broad.mit.edu	37	2	165947170	165947170	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:165947170T>A	ENST00000360093.3	-	28	5984	c.5493A>T	c.(5491-5493)aaA>aaT	p.K1831N	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.K1831N|SCN3A_ENST00000409101.3_Missense_Mutation_p.K1782N|SCN3A_ENST00000540861.1_Missense_Mutation_p.K314N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1831						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TAAGCTGGACTTTGTTGGGTT	0.453000													9	99					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179591958	179591958	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:179591958C>T	ENST00000589042.1	-	69	20358	c.20134G>A	c.(20134-20136)Gat>Aat	p.D6712N	TTN_ENST00000591111.1_Missense_Mutation_p.D6395N|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D5468N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6395	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACTTATCACTGGCTGGA	0.443000													7	52					0	0	0.003080	0	0
OSGIN1	29948	broad.mit.edu	37	16	83999139	83999139	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:83999139G>C	ENST00000343939.2	+	7	1593	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	OSGIN1_ENST00000393306.1_Missense_Mutation_p.D321H|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D321H			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	404					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGCCGTGGACGACCCTGGCCT	0.652000													4	46					0	0	0.009096	0	0
RYR3	6263	broad.mit.edu	37	15	34151830	34151830	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:34151830G>C	ENST00000389232.4	+	100	14267	c.14197G>C	c.(14197-14199)Gaa>Caa	p.E4733Q	RYR3_ENST00000415757.3_Missense_Mutation_p.E4728Q|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4733					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATTGGTGATGAAATTGAAGA	0.423000													4	41					0	0	0.009096	0	0
OR52E8	390079	broad.mit.edu	37	11	5878756	5878756	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:5878756C>A	ENST00000537935.1	-	1	208	c.177G>T	c.(175-177)caG>caT	p.Q59H	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGAGACTCTGCTCAGTCT	0.468000													21	117					1.64113e-05	2.02192e-05	0.010504	1	0
ADCY9	115	broad.mit.edu	37	16	4164189	4164189	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:4164189G>A	ENST00000294016.3	-	2	1793	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	419	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGATCGTTCAGGAGACCCACC	0.532000													10	65					0	0	0.006214	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764329	22764329	+	RNA	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr22:22764329C>T	ENST00000390299.2	+	0	122																											TCTGTGCTGACGCAGCCGCCC	0.577000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	172					0	0	0.003080	0	0
PRDM9	56979	broad.mit.edu	37	5	23526991	23526991	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:23526991C>A	ENST00000296682.3	+	11	1976	c.1794C>A	c.(1792-1794)caC>caA	p.H598Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	598					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCACTCACCAGAGGACAC	0.597000										HNSCC(3;0.000094)			11	104					3.52763e-06	4.43306e-06	0.004990	1	0
OTOGL	283310	broad.mit.edu	37	12	80750261	80750261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:80750261G>T	ENST00000458043.2	+	47	5851	c.5845G>T	c.(5845-5847)Ggc>Tgc	p.G1949C	OTOGL_ENST00000547103.1_Missense_Mutation_p.G1937C|OTOGL_ENST00000546620.1_5'UTR	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTGATTGTTGGCCACAGTCC	0.323000													4	58					0.00024832	0.000286289	0.009096	1	0
KCNU1	157855	broad.mit.edu	37	8	36766899	36766899	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:36766899C>G	ENST00000399881.3	+	21	2214	c.2177C>G	c.(2176-2178)tCa>tGa	p.S726*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	726	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATGCCCACTCAGCCCCGATG	0.468000													33	236					0	0	0.004289	0	0
C11orf54	28970	broad.mit.edu	37	11	93488502	93488502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:93488502C>T	ENST00000528288.1	+	6	692	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	C11orf54_ENST00000354421.3_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000331239.4_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000528099.1_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000540113.1_Nonsense_Mutation_p.Q134*	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	153						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCATGATTTTCAGTGTGCATT	0.423000													4	42					0	0	0.009096	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905639	54905639	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:54905639G>A	ENST00000474759.1	+	18	1748	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R473Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R567Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R567Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	567						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGGAAGACCGAGATGACGTG	0.493000													4	47					0	0	0.001168	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047774	42047774	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:42047774C>G	ENST00000372584.1	-	3	3709	c.2695G>C	c.(2695-2697)Gag>Cag	p.E899Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E899Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E899Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E899Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	899	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCAGCTTCTCAGCTGGGAGC	0.622000													8	86					0	0	0.004482	0	0
TG	7038	broad.mit.edu	37	8	133883593	133883593	+	Splice_Site	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:133883593G>T	ENST00000220616.4	+	4	315	c.274_splice	c.e4-1	p.C92_splice	TG_ENST00000377869.1_Splice_Site_p.C92_splice	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	92	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTACCCACAGGTCTGTCATTT	0.507000													13	95					1.5842e-08	2.14066e-08	0.001855	1	0
ANK2	287	broad.mit.edu	37	4	114274912	114274912	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:114274912A>T	ENST00000357077.4	+	38	5191	c.5138A>T	c.(5137-5139)aAa>aTa	p.K1713I	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.K1680I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1680					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAAGCAGAAACAAAAAGAG	0.403000													8	114					0	0	0.004482	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606644	13606644	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:13606644G>C	ENST00000040738.5	-	10	2015	c.1880C>G	c.(1879-1881)cCa>cGa	p.P627R		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	627	Lys-rich.						DNA binding										AGGTTTACTTGGTTCACTTTT	0.353000													7	51					0	0	0.001984	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685379	125685379	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:125685379C>A	ENST00000371126.1	-	1	1455	c.1213G>T	c.(1213-1215)Gcc>Tcc	p.A405S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	405								p.A405S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGCCACAGGCAAGCCTGAGC	0.557000													15	110					1.5739e-10	2.17348e-10	0.004007	1	0
RUSC1	23623	broad.mit.edu	37	1	155292113	155292113	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:155292113C>A	ENST00000368352.5	+	2	700	c.549C>A	c.(547-549)aaC>aaA	p.N183K	RUSC1_ENST00000368354.3_Missense_Mutation_p.N183K|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	183						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CGAACTGCAACGCCCTGACCA	0.627000													6	104					0.00307968	0.00342489	0.003080	1	0
LDOC1	23641	broad.mit.edu	37	X	140270995	140270995	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:140270995G>C	ENST00000370526.2	-	1	315	c.212C>G	c.(211-213)aCg>aGg	p.T71R	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	71					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GTAAGACGCCGTCTGCACGAT	0.622000													9	91					0	0	0.004482	0	0
KCNA4	3739	broad.mit.edu	37	11	30033664	30033664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:30033664C>A	ENST00000328224.6	-	2	1795	c.562G>T	c.(562-564)Gag>Tag	p.E188*		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	188						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.E188K(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATTTGGGTCTCAAAGCGTAGG	0.498000													15	39					1.3612e-06	1.75145e-06	0.003163	1	0
ZNF521	25925	broad.mit.edu	37	18	22804498	22804498	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr18:22804498C>T	ENST00000361524.3	-	4	3532	c.3384G>A	c.(3382-3384)gaG>gaA	p.E1128E	ZNF521_ENST00000538137.2_Silent_p.E1128E|ZNF521_ENST00000584787.1_Silent_p.E908E	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1128					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCCTTTCCCCTCAATGGCAC	0.542000			T	PAX5	ALL								9	51					0	0	0.004482	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000													4	44					0	0	0.009096	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481446	140481446	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140481446T>A	ENST00000231130.2	+	1	1213	c.1213T>A	c.(1213-1215)Tca>Aca	p.S405T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		405	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTAGTGTCAGAAGGCGC	0.468000													7	67					0	0	0.001984	0	0
KCNMA1	3778	broad.mit.edu	37	10	78637593	78637593	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:78637593G>C	ENST00000404771.3	-	30	3886	c.3771C>G	c.(3769-3771)atC>atG	p.I1257M	KCNMA1_ENST00000372440.1_3'UTR|KCNMA1_ENST00000372443.1_3'UTR			Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	0					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCATGGGCTTGATTTGAATGT	0.403000													3	7					0	0	0.004672	0	0
TM2D1	83941	broad.mit.edu	37	1	62190779	62190779	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:62190779C>G	ENST00000371177.2	-	1	26	c.14G>C	c.(13-15)tGg>tCg	p.W5S	TM2D1_ENST00000371180.2_Missense_Mutation_p.W67S|TM2D1_ENST00000606498.1_Missense_Mutation_p.W5S|TM2D1_ENST00000294613.5_Missense_Mutation_p.W5S			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	5					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						ACCAGACGGCCAGGCGGCCGC	0.652000													7	81					0	0	0.004482	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													4	58					0	0	0.000602	0	0
TNS4	84951	broad.mit.edu	37	17	38643291	38643291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:38643291C>A	ENST00000254051.6	-	4	1443	c.1285G>T	c.(1285-1287)Gag>Tag	p.E429*		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	429					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GACGTACCCTCTGGGCATGTG	0.512000													23	347					6.21321e-17	9.04394e-17	0.002780	1	0
GABRE	2564	broad.mit.edu	37	X	151124235	151124235	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:151124235G>C	ENST00000370325.1	-	7	935	c.882C>G	c.(880-882)ctC>ctG	p.L294L	GABRE_ENST00000370328.3_Silent_p.L294L|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	294					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AAACCCAGGAGAGCATCGTGG	0.498000													7	105					0	0	0.001984	0	0
ZNF526	116115	broad.mit.edu	37	19	42729969	42729969	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:42729969C>T	ENST00000301215.3	+	3	1639	c.1414C>T	c.(1414-1416)Cac>Tac	p.H472Y		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGAACGGCGTCACCGCTGTGG	0.652000													12	107					0	0	0.002450	0	0
LRP2	4036	broad.mit.edu	37	2	170042448	170042448	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:170042448C>G	ENST00000263816.3	-	50	9695	c.9410G>C	c.(9409-9411)tGt>tCt	p.C3137S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3137	EGF-like 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCAGGACGACAGGAACAATA	0.438000													7	66					0	0	0.001984	0	0
NID1	4811	broad.mit.edu	37	1	236205225	236205225	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:236205225C>G	ENST00000264187.6	-	4	1202	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	NID1_ENST00000366595.3_Missense_Mutation_p.E374Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	374					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCTGTTTCCTCAACTTCATCC	0.512000													11	67					0	0	0.010729	0	0
OR5L1	219437	broad.mit.edu	37	11	55579362	55579362	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:55579362G>T	ENST00000333973.2	+	1	509	c.420G>T	c.(418-420)gtG>gtT	p.V140V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTTGGAAGGTGCGTGTGGAGC	0.502000													14	106					0.000151284	0.000177677	0.001855	1	0
ELF2	1998	broad.mit.edu	37	4	139983041	139983041	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:139983041C>T	ENST00000394235.2	-	8	1250	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	ELF2_ENST00000510408.1_Missense_Mutation_p.E190K|ELF2_ENST00000379550.1_Missense_Mutation_p.E262K|ELF2_ENST00000265495.4_Missense_Mutation_p.E250K|ELF2_ENST00000379549.2_Missense_Mutation_p.E173K|ELF2_ENST00000358635.3_Missense_Mutation_p.E202K	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	262					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CCCATGGTTTCATAGTTCATG	0.358000													6	46					0	0	0.001984	0	0
CARM1	10498	broad.mit.edu	37	19	11032406	11032406	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:11032406G>A	ENST00000327064.4	+	16	1990	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	CARM1_ENST00000344150.4_Silent_p.P577P	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	600	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TGTCCATCCCGACCAACACCA	0.672000													8	84					0	0	0.006214	0	0
TRRAP	8295	broad.mit.edu	37	7	98528293	98528293	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:98528293G>C	ENST00000359863.4	+	25	3640	c.3431G>C	c.(3430-3432)cGc>cCc	p.R1144P	TRRAP_ENST00000355540.3_Missense_Mutation_p.R1144P|TRRAP_ENST00000446306.3_Missense_Mutation_p.R1143P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1144					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCGTGGAGCGCCTGTGTGCA	0.493000													16	186					0	0	0.004007	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760837	15760837	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:15760837G>A	ENST00000221307.7	+	7	810	c.762G>A	c.(760-762)caG>caA	p.Q254Q	CYP4F3_ENST00000591058.1_Silent_p.Q254Q|CYP4F3_ENST00000586182.1_Silent_p.Q254Q|CYP4F3_ENST00000585846.1_Silent_p.Q254Q|CYP4F3_ENST00000592424.1_3'UTR	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	254					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTGATGGGCAGCGTTTCCGCA	0.577000													37	103					0	0	0.005524	0	0
KCTD19	146212	broad.mit.edu	37	16	67325290	67325290	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:67325290G>T	ENST00000304372.5	-	14	2542	c.2487C>A	c.(2485-2487)gaC>gaA	p.D829E		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	829						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCATGATGATGTCAGCCAGGA	0.517000													4	47					0.000602214	0.000679745	0.000602	1	0
ADCY1	107	broad.mit.edu	37	7	45614412	45614412	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:45614412G>T	ENST00000297323.7	+	1	292	c.270G>T	c.(268-270)ctG>ctT	p.L90L	ADCY1_ENST00000432715.1_Intron	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	90					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	cgcccggccTGGCCAAGGGCT	0.751000													4	20					0.00024832	0.000286289	0.009096	1	0
BAHCC1	57597	broad.mit.edu	37	17	79410070	79410070	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:79410070G>C	ENST00000307745.7	+	9	1695	c.1695G>C	c.(1693-1695)aaG>aaC	p.K565N																								CTGAGGCCAAGCGCAAGTCCC	0.716000													4	42					0	0	0.009096	0	0
MUC4	4585	broad.mit.edu	37	3	195516684	195516684	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:195516684C>T	ENST00000463781.3	-	2	2226	c.1767G>A	c.(1765-1767)atG>atA	p.M589I	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.M589I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	594					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCGTTTTTATCATCTGAGTCA	0.478000													24	338					0	0	0.004656	0	0
HSPA12B	116835	broad.mit.edu	37	20	3725682	3725682	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:3725682G>C	ENST00000254963.2	+	5	545	c.400G>C	c.(400-402)Gcg>Ccg	p.A134P	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	134							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCCCGAAGAGGCGCGGGACTG	0.622000													21	203					0	0	0.012319	0	0
GPT	2875	broad.mit.edu	37	8	145730156	145730156	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:145730156C>G	ENST00000394955.2	+	3	478	c.255C>G	c.(253-255)gtC>gtG	p.V85V	GPT_ENST00000528431.1_Silent_p.V85V	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	85					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTCCCAGGTCTTGGCCCTCT	0.647000													29	296					0	0	0.009535	0	0
TP53I3	9540	broad.mit.edu	37	2	24305854	24305854	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:24305854C>T	ENST00000238721.4	-	2	1161	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TP53I3_ENST00000335934.4_Missense_Mutation_p.E103K|TP53I3_ENST00000417886.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.E103K|TP53I3_ENST00000313482.4_Missense_Mutation_p.E103K|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	103					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGCCCTTCGGGGACAGTG	0.652000													4	41					0	0	0.009096	0	0
TTYH3	80727	broad.mit.edu	37	7	2696097	2696097	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:2696097C>T	ENST00000258796.7	+	11	1384	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	TTYH3_ENST00000403167.1_Silent_p.L222L|TTYH3_ENST00000407643.1_Silent_p.L361L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	393						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		ACCTGGCCCTCTTCTCCTTCG	0.627000													10	84					0	0	0.006214	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47582495	47582495	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:47582495G>C	ENST00000371917.4	+	8	994	c.994G>C	c.(994-996)Gat>Cat	p.D332H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	332					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCCAGGAGTTGATGAAAACTC	0.483000													5	29					0	0	0.000602	0	0
SYNJ2	8871	broad.mit.edu	37	6	158492658	158492658	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:158492658G>C	ENST00000355585.4	+	15	2040	c.1965G>C	c.(1963-1965)aaG>aaC	p.K655N	SYNJ2_ENST00000367122.2_Missense_Mutation_p.K655N|SYNJ2_ENST00000367121.3_Missense_Mutation_p.K655N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	655							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACACAGTGAAGACGGGCATGG	0.612000													6	75					0	0	0.001984	0	0
UAP1	6675	broad.mit.edu	37	1	162557435	162557435	+	Silent	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:162557435A>T	ENST00000271469.3	+	6	1307	c.1005A>T	c.(1003-1005)gtA>gtT	p.V335V	UAP1_ENST00000367924.1_Silent_p.V335V|UAP1_ENST00000367925.1_Silent_p.V335V|UAP1_ENST00000367926.4_Silent_p.V335V			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	335					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCTTCACTGTACCATTTCTGA	0.418000													15	148					0	0	0.004007	0	0
RNF169	254225	broad.mit.edu	37	11	74547638	74547638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:74547638C>T	ENST00000299563.4	+	6	2003	c.1990C>T	c.(1990-1992)Cag>Tag	p.Q664*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	664							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GCAGAAGCTTCAGCAAGAGGA	0.537000													6	75					0	0	0.001168	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063206	41063206	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:41063206G>A	ENST00000352632.3	+	26	5653	c.5567G>A	c.(5566-5568)cGg>cAg	p.R1856Q	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R532Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R599Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1856Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1856					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAGCGGAGGCGGCTGCCCCGC	0.647000													6	59					0	0	0.001168	0	0
COL13A1	1305	broad.mit.edu	37	10	71707089	71707089	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:71707089G>A	ENST00000356340.3	+	36	2552	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K	COL13A1_ENST00000398969.3_Silent_p.K600K|COL13A1_ENST00000398974.3_Silent_p.K660K|COL13A1_ENST00000398973.3_Silent_p.K646K|COL13A1_ENST00000357811.3_Silent_p.K638K|COL13A1_ENST00000398964.3_Silent_p.K643K|COL13A1_ENST00000520133.1_Silent_p.K594K|COL13A1_ENST00000398972.3_Silent_p.K658K|COL13A1_ENST00000398966.3_Silent_p.K650K|COL13A1_ENST00000398971.3_Silent_p.K657K|COL13A1_ENST00000520267.1_Silent_p.K600K|COL13A1_ENST00000522165.1_Silent_p.K641K|COL13A1_ENST00000398978.3_Silent_p.K672K|COL13A1_ENST00000517713.1_Silent_p.K623K|COL13A1_ENST00000398968.3_Silent_p.K653K|COL13A1_ENST00000354547.3_Silent_p.K650K			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	672	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCGGGGACAAGGGAAACCGGG	0.527000													6	48					0	0	0.001984	0	0
DMD	1756	broad.mit.edu	37	X	32841411	32841411	+	Splice_Site	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:32841411C>A	ENST00000357033.4	-	5	564		c.e5+1		DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000288447.4_Splice_Site	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						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			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)				AGGATTCTTACCTGCCAGTGG	0.328000													5	113					3.59834e-05	4.3341e-05	0.001168	1	0
THAP9	79725	broad.mit.edu	37	4	83838125	83838125	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:83838125G>A	ENST00000302236.5	+	5	811	c.760G>A	c.(760-762)Ggt>Agt	p.G254S	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	254							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ACCCAGTCCAGGTTTCAACAG	0.348000													7	74					0	0	0.001984	0	0
SELPLG	6404	broad.mit.edu	37	12	109017937	109017937	+	Silent	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:109017937T>C	ENST00000388962.3	-	2	306	c.147A>G	c.(145-147)ctA>ctG	p.L49L	SELPLG_ENST00000228463.6_Silent_p.L65L|SELPLG_ENST00000550948.1_Silent_p.L49L	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	49					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						AATCATAATCTAGGTACTCAT	0.572000													3	54					0	0	0.009096	0	0
SGPL1	8879	broad.mit.edu	37	10	72633268	72633268	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:72633268C>T	ENST00000373202.3	+	12	1420	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	407					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TGTTGGGCTGCCTTGATGCAC	0.522000													6	114					0	0	0.001168	0	0
FAT4	79633	broad.mit.edu	37	4	126240995	126240995	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:126240995G>C	ENST00000394329.3	+	1	3442	c.3429G>C	c.(3427-3429)caG>caC	p.Q1143H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1143	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGGTGCAGCCAGATTTTG	0.453000													6	113					0	0	0.001168	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124235710	124235710	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:124235710C>T	ENST00000330342.3	+	16	2237	c.1989C>T	c.(1987-1989)ctC>ctT	p.L663L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	663					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TCCCTGTCCTCTTCTTGGGAA	0.502000													19	126					0	0	0.006122	0	0
TBX5	6910	broad.mit.edu	37	12	114793577	114793577	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:114793577C>G	ENST00000310346.4	-	9	1983	c.1317G>C	c.(1315-1317)ctG>ctC	p.L439L	TBX5_ENST00000405440.2_Silent_p.L439L|TBX5_ENST00000349716.5_Silent_p.L389L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	439				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCATGCCAGCCAGCCGAGGGA	0.662000													4	28					0	0	0.009096	0	0
OR7G2	390882	broad.mit.edu	37	19	9213383	9213383	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:9213383A>T	ENST00000305456.2	-	1	599	c.600T>A	c.(598-600)tgT>tgA	p.C200*		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GAGCCAGTTCACAGAAGAAGA	0.473000													6	48					0	0	0.001168	0	0
MBTD1	54799	broad.mit.edu	37	17	49280153	49280153	+	Silent	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:49280153A>G	ENST00000586178.1	-	10	1315	c.972T>C	c.(970-972)gaT>gaC	p.D324D	MBTD1_ENST00000415868.1_Silent_p.D324D|MBTD1_ENST00000376381.2_Silent_p.D324D	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	324					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CATCTGTTCTATCTTCGCTTT	0.423000													9	117					0	0	0.006214	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													4	71					0	0	0.009096	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916873	178916873	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:178916873G>C	ENST00000263967.3	+	2	417	c.260G>C	c.(259-261)aGa>aCa	p.R87T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	87	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GATGAAACAAGACGACTTTGT	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	63					0	0	0.009096	0	0
MTMR8	55613	broad.mit.edu	37	X	63445529	63445529	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:63445529A>T	ENST00000453546.1	-	10	1216	c.1127T>A	c.(1126-1128)aTg>aAg	p.M376K	ASB12_ENST00000362002.2_Start_Codon_SNP_p.M1K			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AACTATTCTCATTATGAGCAC	0.493000													3	8					0	0	0.004672	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509705	106509705	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:106509705C>G	ENST00000359195.3	+	2	2009	c.1699C>G	c.(1699-1701)Ctc>Gtc	p.L567V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.L567V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.L567V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	567					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACTTAACCCTCTCACAGCAGA	0.502000													5	55					0	0	0.000602	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982333	9982333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:9982333G>T	ENST00000506583.1	-	7	694	c.477C>A	c.(475-477)taC>taA	p.Y159*	SLC2A9_ENST00000264784.3_Nonsense_Mutation_p.Y188*|SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.Y159*			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	188					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCTCACTAAGGTACATGGGGA	0.567000													8	31					4.68919e-08	6.24673e-08	0.008291	1	0
MYH1	4619	broad.mit.edu	37	17	10419566	10419566	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:10419566G>A	ENST00000226207.5	-	4	392	c.298C>T	c.(298-300)Cct>Tct	p.P100S	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	100	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCACAGCAGGCTCGTGTAGA	0.463000													17	110					0	0	0.004990	0	0
C5orf15	56951	broad.mit.edu	37	5	133295282	133295282	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:133295282G>C	ENST00000231512.3	-	2	771	c.569C>G	c.(568-570)tCa>tGa	p.S190*	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	190						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TTCTATATTTGAGGATGGCAT	0.388000													7	50					0	0	0.001984	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603915	140603915	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140603915A>T	ENST00000239449.4	+	1	838	c.838A>T	c.(838-840)Aca>Tca	p.T280S	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T127S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		280	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATATCTTACACATTTTTCCA	0.408000													5	37					0	0	0.000602	0	0
EPHA3	2042	broad.mit.edu	37	3	89259011	89259011	+	Splice_Site	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:89259011G>A	ENST00000336596.2	+	3	380	c.153_splice	c.e3-1	p.W52_splice	EPHA3_ENST00000452448.2_Splice_Site_p.W52_splice|EPHA3_ENST00000494014.1_Splice_Site_p.W52_splice	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	52						extracellular region|integral to plasma membrane	ATP binding			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)		ATTCTTCAGTGGGAAGAGATC	0.398000										TSP Lung(6;0.00050)			6	18					0	0	0.001168	0	0
MGA	23269	broad.mit.edu	37	15	42041491	42041491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:42041491C>T	ENST00000219905.7	+	17	5867	c.5686C>T	c.(5686-5688)Cag>Tag	p.Q1896*	MGA_ENST00000566586.1_Nonsense_Mutation_p.Q1687*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q1857*|MGA_ENST00000570161.1_Nonsense_Mutation_p.Q1896*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q1687*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1857						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTTTGTGTCTCAGGCTGGTAC	0.438000													5	51					0	0	0.000602	0	0
CTD-2587H24.4	0	broad.mit.edu	37	19	55670627	55670627	+	Nonstop_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:55670627C>G	ENST00000587871.1	-	4	412	c.413G>C	c.(412-414)tGa>tCa	p.*138S	DNAAF3_ENST00000524407.2_Missense_Mutation_p.D477H|DNAAF3_ENST00000391720.4_Missense_Mutation_p.D524H|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Missense_Mutation_p.D423H|DNAAF3_ENST00000527223.2_Missense_Mutation_p.D544H																							GCCAGGATGTCAAGGGGCGGA	0.647000													5	31					0	0	0.001168	0	0
POTEF	728378	broad.mit.edu	37	2	130877990	130877990	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:130877990G>A	ENST00000357462.5	-	1	192	c.99C>T	c.(97-99)ccC>ccT	p.P33P	POTEF_ENST00000360967.5_Silent_p.P33P|POTEF_ENST00000361163.4_Silent_p.P33P|POTEF_ENST00000409914.2_Silent_p.P33P			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	33						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCCTGCAGCAGGGGAAGCAAC	0.577000													26	246					0	0	0.006320	0	0
SEC24C	9632	broad.mit.edu	37	10	75525632	75525632	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:75525632C>T	ENST00000339365.2	+	11	1603	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Silent_p.L362L|SEC24C_ENST00000345254.4_Silent_p.L481L|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	481					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGAGCTATCCCTGGGCTCTTA	0.517000													28	141					0	0	0.007291	0	0
TP53	7157	broad.mit.edu	37	17	7573991	7573991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:7573991C>A	ENST00000269305.4	-	10	1225	c.1036G>T	c.(1036-1038)Gag>Tag	p.E346*	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E346*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	346	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> A (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L344fs*23(2)|p.E346*(2)|p.L344fs*22(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCAAGGCCTCATTCAGCTCT	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	49					1.58986e-06	2.03179e-06	0.008291	1	0
GPR116	221395	broad.mit.edu	37	6	46826925	46826925	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:46826925G>C	ENST00000283296.7	-	17	3003	c.2715C>G	c.(2713-2715)ctC>ctG	p.L905L	GPR116_ENST00000456426.2_Silent_p.L763L|GPR116_ENST00000362015.4_Silent_p.L905L|GPR116_ENST00000545669.1_Silent_p.L334L|GPR116_ENST00000265417.7_Silent_p.L905L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	905					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGATGGCTTGGAGAGTTGGGA	0.453000													8	64					0	0	0.003080	0	0
CERS4	79603	broad.mit.edu	37	19	8326635	8326635	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:8326635C>G	ENST00000558331.1	+	11	1218	c.759C>G	c.(757-759)ttC>ttG	p.F253L	CERS4_ENST00000251363.5_Missense_Mutation_p.F304L|CERS4_ENST00000559336.1_Intron|CERS4_ENST00000559450.1_Missense_Mutation_p.F304L|CERS4_ENST00000595722.1_3'UTR			Q9HA82	CERS4_HUMAN	ceramide synthase 4	304	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCTACTACTTCTTCAACGGGC	0.552000													8	65					0	0	0.003080	0	0
CENPE	1062	broad.mit.edu	37	4	104084360	104084360	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:104084360C>T	ENST00000265148.3	-	18	1865	c.1776G>A	c.(1774-1776)aaG>aaA	p.K592K	CENPE_ENST00000380026.3_Silent_p.K567K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	592					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTGTAGCTTCTTAATCTGGT	0.328000													6	20					0	0	0.001168	0	0
CPNE5	57699	broad.mit.edu	37	6	36710137	36710137	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:36710137G>A	ENST00000244751.2	-	21	2314	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.R272C	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	564										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGACGCGGGCGAATGCCCTGT	0.687000													6	102					0	0	0.001168	0	0
MUC4	4585	broad.mit.edu	37	3	195518254	195518254	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:195518254G>C	ENST00000463781.3	-	2	656	c.197C>G	c.(196-198)tCt>tGt	p.S66C	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S66C	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	66					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCCTGATTAGAGGTCCTTGA	0.483000													6	153					0	0	0.001168	0	0
H2AFY2	55506	broad.mit.edu	37	10	71851671	71851671	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:71851671G>A	ENST00000373255.4	+	4	702	c.438G>A	c.(436-438)ggG>ggA	p.G146G		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	146	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						AGAAGGGGGGGAAGAAATCCA	0.587000													4	44					0	0	0.000602	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6436574	6436574	+	Missense_Mutation	SNP	C	C	T	rs71584817	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:6436574C>T	ENST00000449001.2	+	14	2223	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R139C|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R609C|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R609C	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	609					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGCCGTCTACGCCAAAGAGC	0.647000													6	156					0	0	0.001984	0	0
MARCO	8685	broad.mit.edu	37	2	119727727	119727727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:119727727G>T	ENST00000327097.4	+	3	372	c.237G>T	c.(235-237)atG>atT	p.M79I	MARCO_ENST00000541757.1_Start_Codon_SNP_p.M1I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	79					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCCTGGAGATGTATTTCCTCA	0.577000													13	78					6.31663e-08	8.35568e-08	0.003163	1	0
FERMT2	10979	broad.mit.edu	37	14	53325133	53325133	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:53325133C>T	ENST00000395631.2	-	15	2221	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	FERMT2_ENST00000343279.4_Missense_Mutation_p.E676K|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000341590.3_Missense_Mutation_p.E669K|FERMT2_ENST00000553373.1_Missense_Mutation_p.E676K			Q96AC1	FERM2_HUMAN	fermitin family member 2	669					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AACATCTCTTCATCTAAACTC	0.363000													9	60					0	0	0.010729	0	0
BAI3	577	broad.mit.edu	37	6	70070957	70070957	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:70070957G>T	ENST00000370598.1	+	29	4613	c.3792G>T	c.(3790-3792)gaG>gaT	p.E1264D	BAI3_ENST00000238918.8_Missense_Mutation_p.E470D|BAI3_ENST00000546190.1_Missense_Mutation_p.E228D	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1264					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTATGAATGAGCTTAGCAATC	0.423000													11	33					4.68919e-08	6.24673e-08	0.008291	1	0
MRPS22	56945	broad.mit.edu	37	3	139065737	139065737	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:139065737G>C	ENST00000495075.1	+	4	622	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	MRPS22_ENST00000478464.1_Missense_Mutation_p.E23Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E64Q|MRPS22_ENST00000465056.1_Missense_Mutation_p.E63Q			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	64						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGTAGCCCAGAGACCAAGAA	0.363000													4	44					0	0	0.009096	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683204	140683204	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140683204C>T	ENST00000239451.4	-	1	408	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	77					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACCGAGTTTTCGGCGACGTAG	0.577000													15	84					0	0	0.002450	0	0
IFT122	55764	broad.mit.edu	37	3	129211017	129211017	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:129211017G>C	ENST00000296266.3	+	18	2371	c.2179G>C	c.(2179-2181)Gag>Cag	p.E727Q	IFT122_ENST00000347300.2_Missense_Mutation_p.E617Q|IFT122_ENST00000507564.1_Missense_Mutation_p.E668Q|IFT122_ENST00000440957.2_Missense_Mutation_p.E467Q|IFT122_ENST00000349441.2_Missense_Mutation_p.E565Q|IFT122_ENST00000348417.2_Missense_Mutation_p.E676Q|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000431818.2_Missense_Mutation_p.E526Q	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	676					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.E727Q(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCGATATTTAGAGCTCATCAG	0.438000													9	135					0	0	0.006214	0	0
OR4A5	81318	broad.mit.edu	37	11	51411644	51411644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:51411644C>A	ENST00000319760.6	-	1	804	c.752G>T	c.(751-753)tGt>tTt	p.C251F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TATGAAAATACAGGGTACAAA	0.388000													6	30					0.00116845	0.00130713	0.001168	1	0
GAN	8139	broad.mit.edu	37	16	81399073	81399073	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:81399073G>A	ENST00000248272.3	+	9	1654	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	498					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CTACCATGATGAGTTTAAAAG	0.428000													9	86					0	0	0.004482	0	0
SOD1	6647	broad.mit.edu	37	21	33036154	33036154	+	Missense_Mutation	SNP	G	G	T	rs121912433		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr21:33036154G>T	ENST00000270142.6	+	2	272	c.124G>T	c.(124-126)Ggc>Tgc	p.G42C	SOD1_ENST00000470944.1_3'UTR|SOD1_ENST00000389995.4_Missense_Mutation_p.G23C	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	42			G -> D (in ALS1).|G -> S (in ALS1).		activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)	4						ACTGACTGAAGGCCTGCATGG	0.433000													15	80					2.48551e-13	3.56287e-13	0.004990	1	0
MYOM3	127294	broad.mit.edu	37	1	24406539	24406539	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:24406539G>A	ENST00000330966.7	-	20	2718	c.2556C>T	c.(2554-2556)gtC>gtT	p.V852V	MYOM3_ENST00000329601.7_Silent_p.V851V|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Silent_p.V851V			Q5VTT5	MYOM3_HUMAN	myomesin 3	851	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCTGGGGTGACCGGCTTCC	0.592000													6	66					0	0	0.001168	0	0
EPHA3	2042	broad.mit.edu	37	3	89521758	89521758	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:89521758G>C	ENST00000336596.2	+	16	3060	c.2835G>C	c.(2833-2835)aaG>aaC	p.K945N	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	945	SAM.					extracellular region|integral to plasma membrane	ATP binding			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)		CAATAGCCAAGATTTCCACAG	0.408000										TSP Lung(6;0.00050)			6	66					0	0	0.001168	0	0
PRUNE2	158471	broad.mit.edu	37	9	79520851	79520851	+	Translation_Start_Site	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:79520851G>C	ENST00000428286.1	-	0	152				PRUNE2_ENST00000376718.3_Missense_Mutation_p.S10C|PRUNE2_ENST00000376713.3_Missense_Mutation_p.S10C			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TACCAGTTTAGATTTGGCGCG	0.532000													7	65					0	0	0.001984	0	0
MANEA	79694	broad.mit.edu	37	6	96034645	96034645	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:96034645G>T	ENST00000358812.4	+	2	464	c.330G>T	c.(328-330)tgG>tgT	p.W110C	MANEA_ENST00000369293.1_Missense_Mutation_p.W110C	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	110	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATTACAGTTGGTATGGAAATC	0.363000													7	39					8.12818e-05	9.63624e-05	0.001984	1	0
MYOF	26509	broad.mit.edu	37	10	95111578	95111578	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:95111578G>C	ENST00000371501.4	-	33	3629	c.3507C>G	c.(3505-3507)ctC>ctG	p.L1169L	MYOF_ENST00000371502.4_Silent_p.L1169L|MYOF_ENST00000359263.4_Silent_p.L1169L|MYOF_ENST00000358334.5_Silent_p.L1156L			Q9NZM1	MYOF_HUMAN	myoferlin	1169	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCTCCGATGGAGGAAACAGA	0.433000													5	38					0	0	0.001168	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710633	140710633	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140710633G>A	ENST00000517417.1	+	1	382	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D128N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATATTAATGACAACACTCC	0.403000													24	130					0	0	0.003954	0	0
WNK1	65125	broad.mit.edu	37	12	992609	992609	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:992609C>G	ENST00000537687.1	+	16	4961	c.4318C>G	c.(4318-4320)Caa>Gaa	p.Q1440E	WNK1_ENST00000535572.1_Missense_Mutation_p.Q933E|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1678E|WNK1_ENST00000315939.6_Missense_Mutation_p.Q1180E|WNK1_ENST00000340908.4_Missense_Mutation_p.Q773E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1180					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTTTGTGGATCAAGTGCGAGA	0.388000													3	39					0	0	0.004672	0	0
OR14C36	127066	broad.mit.edu	37	1	248512634	248512634	+	Silent	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:248512634T>G	ENST00000317861.1	+	1	558	c.558T>G	c.(556-558)tcT>tcG	p.S186S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGAAGCTCTCTTGCTCTGACA	0.493000													10	78					0	0	0.008291	0	0
ZNF248	57209	broad.mit.edu	37	10	38121209	38121209	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:38121209C>G	ENST00000395867.3	-	6	1624	c.1074G>C	c.(1072-1074)ggG>ggC	p.G358G	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.G358G|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGAAATTACTCCCATTTTCAT	0.403000													29	89					0	0	0.005443	0	0
LZTS1	11178	broad.mit.edu	37	8	20110421	20110421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:20110421C>A	ENST00000381569.1	-	3	1378	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	LZTS1_ENST00000265801.6_Nonsense_Mutation_p.E341*|LZTS1_ENST00000522290.1_Nonsense_Mutation_p.E341*			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	341					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCCGCTTCTCCTGCTGAAGC	0.647000													4	32					0.00024832	0.000286289	0.009096	1	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621545	99621545	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:99621545C>T	ENST00000324306.6	+	2	650	c.416C>T	c.(415-417)tCa>tTa	p.S139L	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S103L|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	139					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CTTGATTTATCAGGACAACAG	0.507000													7	68					0	0	0.003080	0	0
OR7G1	125962	broad.mit.edu	37	19	9226385	9226385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:9226385C>T	ENST00000293614.1	-	1	54	c.55G>A	c.(55-57)Gag>Aag	p.E19K	OR7G1_ENST00000541538.1_Missense_Mutation_p.E19K			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E19*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TCTGGGTCCTCTGTCACTTTC	0.433000													8	90					0	0	0.006214	0	0
PLCL1	5334	broad.mit.edu	37	2	198950567	198950567	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:198950567C>G	ENST00000428675.1	+	2	2724	c.2326C>G	c.(2326-2328)Cct>Gct	p.P776A	PLCL1_ENST00000437704.2_Missense_Mutation_p.P678A	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	776	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAGTGATAATCCTATTTTTGA	0.393000													6	61					0	0	0.001168	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609007	115609007	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:115609007C>G	ENST00000361384.2	-	2	2774	c.1857G>C	c.(1855-1857)gaG>gaC	p.E619D	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E619D	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	619					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AAAGCTGACTCTCATGTAAAG	0.403000								Other identified genes with known or suspected DNA repair function					9	86					0	0	0.008291	0	0
RP1L1	94137	broad.mit.edu	37	8	10468390	10468390	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:10468390C>A	ENST00000382483.3	-	4	3441	c.3218G>T	c.(3217-3219)cGg>cTg	p.R1073L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1073					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGAAGTGCCCGCAGGCTCAC	0.697000													5	21					0.000602214	0.000679745	0.000602	1	0
FGD5	152273	broad.mit.edu	37	3	14862303	14862303	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:14862303G>A	ENST00000285046.5	+	1	1835	c.1725G>A	c.(1723-1725)agG>agA	p.R575R	FGD5_ENST00000543601.1_Silent_p.R334R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	575					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ATGACCACAGGATAAAGAGGA	0.557000													4	36					0	0	0.009096	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587954	68587954	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:68587954G>C	ENST00000478136.1	+	4	797	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q	FAM19A1_ENST00000496687.1_Missense_Mutation_p.E103Q	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	103						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCTTGCCTAGAAGGAGAAGA	0.438000													7	48					0	0	0.003080	0	0
EFCAB6	64800	broad.mit.edu	37	22	44178131	44178131	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr22:44178131G>C	ENST00000262726.7	-	3	321	c.68C>G	c.(67-69)tCa>tGa	p.S23*	EFCAB6_ENST00000358439.4_5'UTR|EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000396231.2_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGGGGTCTTGAATGTGTAAA	0.373000													4	57					0	0	0.009096	0	0
DAPK3	1613	broad.mit.edu	37	19	3964802	3964802	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:3964802C>T	ENST00000545797.2	-	3	493	c.250G>A	c.(250-252)Gag>Aag	p.E84K	DAPK3_ENST00000301264.3_Missense_Mutation_p.E84K			O43293	DAPK3_HUMAN	death-associated protein kinase 3	84	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTGTTCTCGAAGATGTCG	0.632000													14	86					0	0	0.001855	0	0
OR2J3	442186	broad.mit.edu	37	6	29079946	29079946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:29079946G>T	ENST00000377169.1	+	1	279	c.279G>T	c.(277-279)aaG>aaT	p.K93N		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K93N(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCCCGGAAAAGACCATCTCTT	0.478000													12	159					2.80697e-09	3.83416e-09	0.010729	1	0
OR5M3	219482	broad.mit.edu	37	11	56237626	56237626	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:56237626C>A	ENST00000312240.2	-	1	388	c.348G>T	c.(346-348)atG>atT	p.M116I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TATCAAAGGCCATCGCAGCAA	0.358000													5	71					0.000602214	0.000679745	0.000602	1	0
RFC5	5985	broad.mit.edu	37	12	118467620	118467620	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:118467620G>A	ENST00000392542.2	+	11	1386	c.853G>A	c.(853-855)Gca>Aca	p.A285T	RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000229043.3_Missense_Mutation_p.A221T|RFC5_ENST00000454402.2_Missense_Mutation_p.A306T	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	306					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACCAAAATGGCAGACATTGA	0.358000													10	99					0	0	0.001855	0	0
PARP2	10038	broad.mit.edu	37	14	20815046	20815046	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:20815046G>C	ENST00000527915.1	+	4	342	c.337G>C	c.(337-339)Gat>Cat	p.D113H	RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000429687.3_Missense_Mutation_p.D100H|PARP2_ENST00000250416.5_Missense_Mutation_p.D113H			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	113					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGAAGGAAATGATGTCTATGA	0.368000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	40					0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92086102	92086102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:92086102C>A	ENST00000298047.6	+	1	841	c.824C>A	c.(823-825)tCg>tAg	p.S275*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.S125*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.S275*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.S275*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	275	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTCCTTTCTCGTTGGAAAAA	0.448000										TCGA Ovarian(4;0.039)			13	102					0.00010058	0.000118496	0.001368	1	0
MYPN	84665	broad.mit.edu	37	10	69926137	69926137	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:69926137C>A	ENST00000358913.5	+	10	2175	c.1687C>A	c.(1687-1689)Ccc>Acc	p.P563T	MYPN_ENST00000354393.2_Missense_Mutation_p.P288T|MYPN_ENST00000540630.1_Missense_Mutation_p.P563T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	563						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCCTCCCCACCCCACTCAGA	0.572000													11	42					5.16669e-11	7.1876e-11	0.010729	1	0
OR10G4	390264	broad.mit.edu	37	11	123886957	123886957	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:123886957C>T	ENST00000320891.4	+	1	676	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	226			R -> Q (in dbSNP:rs11219408).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCATCCTGCGGATCCGCAC	0.517000													5	97					0	0	0.001984	0	0
ATP11C	286410	broad.mit.edu	37	X	138827966	138827966	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:138827966G>T	ENST00000370557.1	-	25	3897	c.2870C>A	c.(2869-2871)aCa>aAa	p.T957K	ATP11C_ENST00000359686.2_Missense_Mutation_p.T963K|ATP11C_ENST00000370543.1_Missense_Mutation_p.T963K|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.T963K|ATP11C_ENST00000361648.2_Missense_Mutation_p.T963K			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	963					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGCCAGAAATGTCCAATATAA	0.393000													8	62					1.06961e-07	1.40503e-07	0.003080	1	0
GPR148	344561	broad.mit.edu	37	2	131487352	131487352	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:131487352C>A	ENST00000309926.4	+	1	710	c.628C>A	c.(628-630)Cag>Aag	p.Q210K		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	210						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATGGGCACCCAGCCGGGATG	0.542000													14	90					3.27435e-08	4.39299e-08	0.002450	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137205	40137205	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:40137205G>T	ENST00000278198.2	-	2	2601	c.638C>A	c.(637-639)cCt>cAt	p.P213H	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	213					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTGAGGTTAGGGATTTCCCG	0.458000													7	38					2.0095e-06	2.55939e-06	0.001984	1	0
NEK3	4752	broad.mit.edu	37	13	52707317	52707317	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:52707317C>T	ENST00000452082.2	-	14	2724	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	NEK3_ENST00000339406.3_Silent_p.L494L|NEK3_ENST00000400357.2_Silent_p.L477L|NEK3_ENST00000378101.2_Silent_p.L494L			P51956	NEK3_HUMAN	NIMA-related kinase 3	494					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CTCGCTTCTTCAGCTCTGACA	0.498000													5	17					0	0	0.000602	0	0
MUC4	4585	broad.mit.edu	37	3	195516290	195516290	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:195516290C>G	ENST00000463781.3	-	2	2620	c.2161G>C	c.(2161-2163)Gat>Cat	p.D721H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D721H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	726			A -> T (in dbSNP:rs3749331).		cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGGTGGCATCATGGCTGCTG	0.612000													7	142					0	0	0.003080	0	0
CHD6	84181	broad.mit.edu	37	20	40054752	40054752	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:40054752C>A	ENST00000373233.3	-	28	4287	c.4110G>T	c.(4108-4110)aaG>aaT	p.K1370N		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1370					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTCATCCTTCTTTTCGCTAA	0.423000													7	179					5.18039e-06	6.44557e-06	0.003080	1	0
ARHGAP39	80728	broad.mit.edu	37	8	145770662	145770662	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:145770662C>A	ENST00000276826.5	-	5	2693	c.2492G>T	c.(2491-2493)cGg>cTg	p.R831L	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R831L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R831L|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	831	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GTCCATGTGCCGGTAGATGTA	0.627000													12	46					3.07112e-06	3.88527e-06	0.010729	1	0
SSU72	29101	broad.mit.edu	37	1	1500188	1500188	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:1500188C>T	ENST00000359060.4	-	2	215	c.189G>A	c.(187-189)caG>caA	p.Q63Q	SSU72_ENST00000291386.3_Silent_p.Q63Q			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	63					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CATTGTACATCTGGTCATATG	0.493000													10	105					0	0	0.006214	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791250	133791250	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:133791250G>A	ENST00000321016.8	-	18	2600	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	IGSF9B_ENST00000533871.2_Silent_p.L790L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	790						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACGGCGCTCGGAGCGTGCGGA	0.657000													4	34					0	0	0.009096	0	0
CARM1	10498	broad.mit.edu	37	19	11031219	11031219	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:11031219C>T	ENST00000327064.4	+	11	1494	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	CARM1_ENST00000344150.4_Missense_Mutation_p.S435L	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	435					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GACACGCTCTCAGGGACATGT	0.637000													4	44					0	0	0.009096	0	0
WDFY3	23001	broad.mit.edu	37	4	85731329	85731329	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:85731329G>A	ENST00000322366.6	-	14	2463	c.2056C>T	c.(2056-2058)Cac>Tac	p.H686Y	WDFY3_ENST00000295888.4_Missense_Mutation_p.H686Y|WDFY3-AS1_ENST00000510449.1_RNA			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	686						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACACAGTGTGAAGAAGTTCA	0.448000													9	63					0	0	0.006214	0	0
EIF6	3692	broad.mit.edu	37	20	33867900	33867900	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:33867900C>G	ENST00000374450.3	-	5	655	c.391G>C	c.(391-393)Gat>Cat	p.D131H	EIF6_ENST00000374443.3_Missense_Mutation_p.D112H|EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374436.3_Missense_Mutation_p.D131H	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	131					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTGAGCACATCTGCCAGAATT	0.507000													6	172					0	0	0.003080	0	0
NES	10763	broad.mit.edu	37	1	156640010	156640010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:156640010G>A	ENST00000368223.3	-	4	4102	c.3970C>T	c.(3970-3972)Caa>Taa	p.Q1324*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1324	Tail.			DPTGEQRPPPQG -> TPLESRGHPLK (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCTCCCCTTGAGGGGGTGGC	0.662000													8	136					0	0	0.003080	0	0
CAPN13	92291	broad.mit.edu	37	2	30966341	30966341	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:30966341C>A	ENST00000295055.8	-	13	1529	c.1353G>T	c.(1351-1353)ctG>ctT	p.L451L	CAPN13_ENST00000534090.2_Silent_p.L451L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	451					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCCCAGGGCTCAGATGGTAAG	0.463000													27	168					7.92952e-12	1.12385e-11	0.003954	1	0
THUMPD2	80745	broad.mit.edu	37	2	39963894	39963894	+	Missense_Mutation	SNP	G	G	A	rs145653260	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:39963894G>A	ENST00000505747.1	-	10	1520	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L	THUMPD2_ENST00000260619.6_Missense_Mutation_p.S468L	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	498							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AGAAGAGTGCGACTTCTTATA	0.448000													4	36					0	0	0.009096	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137206	40137206	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:40137206G>T	ENST00000278198.2	-	2	2600	c.637C>A	c.(637-639)Cct>Act	p.P213T	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	213					regulation of axonogenesis	integral to membrane	protein binding	p.P213T(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGAGGTTAGGGATTTCCCGA	0.458000													8	39					1.06961e-07	1.40503e-07	0.003080	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200776585	200776585	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:200776585G>T	ENST00000358823.2	+	3	751	c.481G>T	c.(481-483)Gct>Tct	p.A161S	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.A161S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A161S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	161						cytoplasm|microtubule	protein binding										AATTGCGTGTGCTCAGCAGTA	0.383000													7	43					8.12818e-05	9.63624e-05	0.001984	1	0
C9orf129	445577	broad.mit.edu	37	9	96080730	96080730	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr9:96080730G>A	ENST00000375419.1	-	5	904	c.541C>T	c.(541-543)Ccg>Tcg	p.P181S	WNK2_ENST00000395477.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000349097.3_Intron	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	181										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						CACACTGGCGGAGCTGCTTGC	0.612000													8	86					0	0	0.006214	0	0
PRKCH	5583	broad.mit.edu	37	14	61997242	61997242	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr14:61997242G>A	ENST00000332981.5	+	12	2075	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	PRKCH_ENST00000555082.1_Missense_Mutation_p.E403K|RP11-47I22.4_ENST00000556347.1_Silent_p.L68L	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	564	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGACCTCTTTGAGGCCATACT	0.522000													12	86					0	0	0.001855	0	0
DNAH7	56171	broad.mit.edu	37	2	196740445	196740445	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:196740445C>A	ENST00000312428.6	-	38	6340	c.6240G>T	c.(6238-6240)atG>atT	p.M2080I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2080	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						CTAGTTTAATCATGGAACAAT	0.418000													9	32					3.09899e-07	4.0459e-07	0.004482	1	0
ABCC6	368	broad.mit.edu	37	16	16302622	16302622	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr16:16302622C>G	ENST00000205557.7	-	7	786	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	253					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CACTCCTTTTCAAGCCGGGAA	0.542000													9	85					0	0	0.004482	0	0
RLIM	51132	broad.mit.edu	37	X	73811920	73811920	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:73811920C>G	ENST00000332687.6	-	4	1448	c.1230G>C	c.(1228-1230)atG>atC	p.M410I	RLIM_ENST00000349225.2_Missense_Mutation_p.M410I	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	410					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAAACCTGTCATTATCTGCC	0.408000													8	91					0	0	0.004482	0	0
CARKD	55739	broad.mit.edu	37	13	111290831	111290831	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr13:111290831A>T	ENST00000309957.2	+	10	1150	c.1136A>T	c.(1135-1137)gAt>gTt	p.D379V	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Missense_Mutation_p.I203F|CARKD_ENST00000424185.2_Missense_Mutation_p.I224F	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	0										NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CTCCGACATGATCGCCGAGGT	0.632000													15	64					0	0	0.004007	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383245	41383245	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:41383245C>G	ENST00000301146.4	-	7	1552	c.1011G>C	c.(1009-1011)aaG>aaC	p.K337N	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.K286N	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	337						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTGCCGGTTCTTGCCGATCA	0.532000													6	59					0	0	0.004482	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763244	5763244	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr9:5763244G>C	ENST00000414202.2	+	19	2408	c.2217G>C	c.(2215-2217)ctG>ctC	p.L739L	KIAA1432_ENST00000251879.6_Silent_p.L739L|KIAA1432_ENST00000381532.2_Silent_p.L660L|KIAA1432_ENST00000449720.2_Silent_p.L623L|KIAA1432_ENST00000418622.3_Silent_p.L660L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	739						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCCTCTGGCTGAGCTGTGGTG	0.532000													5	114					0	0	0.000602	0	0
BDP1	55814	broad.mit.edu	37	5	70805797	70805797	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:70805797A>T	ENST00000358731.4	+	17	3141	c.2878A>T	c.(2878-2880)Act>Tct	p.T960S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	960	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTGAAAGCAACTGGAAATGA	0.428000													17	59					0	0	0.004007	0	0
OR2L13	284521	broad.mit.edu	37	1	248263108	248263108	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:248263108T>C	ENST00000366478.2	+	3	768	c.431T>C	c.(430-432)aTt>aCt	p.I144T	OR2L13_ENST00000358120.2_Missense_Mutation_p.I144T	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GTGAAGATGATTGGAGGCTCT	0.488000													26	206					0	0	0.003954	0	0
CD180	4064	broad.mit.edu	37	5	66479858	66479858	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:66479858G>C	ENST00000256447.4	-	3	970	c.813C>G	c.(811-813)ctC>ctG	p.L271L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	271					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		ACATTTCACAGAGTCCCTTGA	0.463000													5	59					0	0	0.000602	0	0
EGFL8	80864	broad.mit.edu	37	6	32134567	32134567	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:32134567C>A	ENST00000395512.1	+	4	419	c.314C>A	c.(313-315)cCg>cAg	p.P105Q	EGFL8_ENST00000333845.6_Missense_Mutation_p.P105Q|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	105	EMI.					extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AAGCGGCACCCGGGGGCGCTC	0.667000													3	43					0.004672	0.00515153	0.004672	1	0
IGKV1-9	28941	broad.mit.edu	37	2	89309562	89309562	+	RNA	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:89309562C>T	ENST00000493819.1	-	0	325																											AATTCTGTCCCAGATCCACTG	0.478000													23	198					0	0	0.012319	0	0
HUWE1	10075	broad.mit.edu	37	X	53591666	53591666	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:53591666C>G	ENST00000342160.3	-	50	7355	c.6898G>C	c.(6898-6900)Gaa>Caa	p.E2300Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2300Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2300	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTGCACTTCTGCTTCCCCA	0.517000													5	107					0	0	0.001984	0	0
CD93	22918	broad.mit.edu	37	20	23066051	23066051	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:23066051G>A	ENST00000246006.4	-	1	926	c.779C>T	c.(778-780)cCc>cTc	p.P260L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	260	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCATACTTGGGGCTGACACA	0.602000													14	172					0	0	0.002450	0	0
USP26	83844	broad.mit.edu	37	X	132160973	132160973	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:132160973C>G	ENST00000511190.1	-	6	1745	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H	USP26_ENST00000370832.1_Missense_Mutation_p.D426H|USP26_ENST00000406273.1_Missense_Mutation_p.D426H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	426					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCACTGGTGTCAGGATCATCA	0.378000													11	80					0	0	0.008291	0	0
ABLIM3	22885	broad.mit.edu	37	5	148632354	148632354	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:148632354G>A	ENST00000506113.1	+	22	2374	c.1892G>A	c.(1891-1893)aGa>aAa	p.R631K	ABLIM3_ENST00000309868.7_Missense_Mutation_p.R631K|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R598K|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R520K|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R520K|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R536K|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R117K|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	631	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTACAAGAGGAAGAAAC	0.488000													5	75					0	0	0.000602	0	0
PDZD2	23037	broad.mit.edu	37	5	32010523	32010523	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:32010523G>A	ENST00000438447.1	+	6	1730	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D448N			O15018	PDZD2_HUMAN	PDZ domain containing 2	448					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCCTGGACTGATAACGAAGA	0.532000													8	76					0	0	0.003080	0	0
PFKL	5211	broad.mit.edu	37	21	45741720	45741720	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr21:45741720G>T	ENST00000403390.1	+	14	1441	c.1441G>T	c.(1441-1443)Gtg>Ttg	p.V481L	PFKL_ENST00000349048.4_Missense_Mutation_p.V434L			P17858	K6PL_HUMAN	phosphofructokinase, liver	434					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CACAGTATACGTGGTGCACGA	0.647000													19	85					5.03518e-11	7.06429e-11	0.007413	1	0
SSPO	23145	broad.mit.edu	37	7	149528279	149528279	+	RNA	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr7:149528279G>T	ENST00000378016.2	+	0	15198							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCACCAAAGGGACCTGTTACC	0.617000													4	24					1.23904e-05	1.5325e-05	0.000602	1	0
HSF2	3298	broad.mit.edu	37	6	122744757	122744757	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:122744757G>C	ENST00000452194.1	+	10	1289	c.1102G>C	c.(1102-1104)Gac>Cac	p.D368H	HSF2_ENST00000465214.1_3'UTR|HSF2_ENST00000368455.4_Missense_Mutation_p.D368H	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	368	Hydrophobic repeat HR-C.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TGACAGTATTGACTGCAGTTT	0.343000													7	61					0	0	0.004482	0	0
RBMX	27316	broad.mit.edu	37	X	135960088	135960088	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:135960088C>A	ENST00000562646.1	-	4	528	c.374G>T	c.(373-375)cGg>cTg	p.R125L	RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.R125L|RBMX_ENST00000570135.1_Intron			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	125						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GTGTCCTCCCCGTGAGGGAGG	0.547000													7	76					8.12818e-05	9.641e-05	0.001984	1	0
RASAL2	9462	broad.mit.edu	37	1	178421649	178421649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:178421649C>G	ENST00000448150.3	+	11	2635	c.1817C>G	c.(1816-1818)tCa>tGa	p.S606*	RASAL2_ENST00000367649.3_Nonsense_Mutation_p.S624*|RASAL2_ENST00000462775.1_Nonsense_Mutation_p.S476*	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	476					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATCAGTGCCTCATTATTTCTC	0.478000													10	200					0	0	0.006214	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600659	232600659	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:232600659C>G	ENST00000366630.1	-	8	3105	c.2747G>C	c.(2746-2748)aGa>aCa	p.R916T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R916T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	916					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACATTCTCCTCTTTCGTAAAA	0.413000													4	53					0	0	0.000602	0	0
KIAA1045	23349	broad.mit.edu	37	9	34977173	34977173	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr9:34977173G>C	ENST00000242315.3	+	6	1025	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	KIAA1045_ENST00000544237.1_Missense_Mutation_p.E315Q|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	315							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAGTGAGGCAGAGTGCCGCCG	0.632000													8	104					0	0	0.008291	0	0
LRP1B	53353	broad.mit.edu	37	2	141680547	141680547	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:141680547G>T	ENST00000389484.3	-	21	4277	c.3306C>A	c.(3304-3306)tcC>tcA	p.S1102S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1102	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACTCCAACAGGAAAACTTGG	0.438000										TSP Lung(27;0.18)			7	41					5.18039e-06	6.47119e-06	0.003080	1	0
LRRC8C	84230	broad.mit.edu	37	1	90180404	90180404	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:90180404G>A	ENST00000370454.4	+	3	2530	c.2275G>A	c.(2275-2277)Gta>Ata	p.V759I	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	759						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTACTTAGATGTAAAAGGTAA	0.393000													5	55					0	0	0.000602	0	0
CDH10	1008	broad.mit.edu	37	5	24498546	24498546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:24498546G>T	ENST00000264463.4	-	9	1983	c.1476C>A	c.(1474-1476)ttC>ttA	p.F492L	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	492	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGTGTCATAGAACACAGCAA	0.398000										HNSCC(23;0.051)			8	39					3.09899e-07	4.0459e-07	0.004482	1	0
TCEAL5	340543	broad.mit.edu	37	X	102529098	102529098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:102529098G>A	ENST00000372680.1	-	3	688	c.394C>T	c.(394-396)Cag>Tag	p.Q132*		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AAGTCCTCCTGAGAGTCCTTG	0.532000													6	166					0	0	0.001984	0	0
BTBD9	114781	broad.mit.edu	37	6	38562074	38562074	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:38562074G>C	ENST00000481247.1	-	3	366	c.215C>G	c.(214-216)tCt>tGt	p.S72C	BTBD9_ENST00000314100.6_Missense_Mutation_p.S4C|BTBD9_ENST00000408958.1_Missense_Mutation_p.S4C|BTBD9_ENST00000419706.2_Missense_Mutation_p.S13C|BTBD9_ENST00000403056.1_Missense_Mutation_p.S72C	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	72	BTB.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TTCAGGCTGAGACTCTCGCAT	0.428000													6	68					0	0	0.001168	0	0
U2AF2	11338	broad.mit.edu	37	19	56180086	56180086	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:56180086C>G	ENST00000450554.2	+	9	1832	c.873C>G	c.(871-873)gtC>gtG	p.V291V	U2AF2_ENST00000590551.1_Silent_p.V127V|U2AF2_ENST00000308924.4_Silent_p.V291V|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	291	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCAACCTGGTCAAGGACAGTG	0.632000													9	65					0	0	0.008291	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481446	140481446	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:140481446T>A	ENST00000231130.2	+	1	1213	c.1213T>A	c.(1213-1215)Tca>Aca	p.S405T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		405	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTAGTGTCAGAAGGCGC	0.468000													7	67					0	0	0.001984	0	0
CCL16	6360	broad.mit.edu	37	17	34304721	34304721	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:34304721C>T	ENST00000293275.3	-	3	319	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	82					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGACCCAGTCGTCATTGGGG	0.522000													8	110					0	0	0.004482	0	0
WNK1	65125	broad.mit.edu	37	12	1006841	1006841	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:1006841C>T	ENST00000537687.1	+	25	7865	c.7222C>T	c.(7222-7224)Ctt>Ttt	p.L2408F	WNK1_ENST00000315939.6_Missense_Mutation_p.L2148F|WNK1_ENST00000535572.1_Missense_Mutation_p.L1900F|WNK1_ENST00000530271.2_Missense_Mutation_p.L2646F|WNK1_ENST00000340908.4_Missense_Mutation_p.L1741F	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2148					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAGCCCCCAGCTTTCAGGTAA	0.488000													3	25					0	0	0.004672	0	0
PAK7	57144	broad.mit.edu	37	20	9561232	9561232	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:9561232C>T	ENST00000378429.3	-	5	1096	c.550G>A	c.(550-552)Gag>Aag	p.E184K	PAK7_ENST00000353224.5_Missense_Mutation_p.E184K|PAK7_ENST00000378423.1_Missense_Mutation_p.E184K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	184	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGCTTCACCTCAGAATAGTAG	0.458000													12	117					0	0	0.001368	0	0
DDX4	54514	broad.mit.edu	37	5	55083796	55083796	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:55083796G>A	ENST00000505374.1	+	15	1232	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	DDX4_ENST00000511853.1_Silent_p.Q231Q|DDX4_ENST00000354991.5_Silent_p.Q346Q|DDX4_ENST00000514278.2_Silent_p.Q360Q|DDX4_ENST00000353507.5_Silent_p.Q346Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	380	Helicase ATP-binding.			Q -> K (in Ref. 5; AAH47455).	multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGTCAACCAGATTTATTTGG	0.373000													3	28					0	0	0.009096	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977961	53977961	+	Missense_Mutation	SNP	G	G	C	rs139014010		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:53977961G>C	ENST00000263634.3	-	3	448	c.314C>G	c.(313-315)cCt>cGt	p.P105R	GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.P32R|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.P143R|ASB3_ENST00000406625.2_Missense_Mutation_p.P140R|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.P32R	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		140					intracellular signal transduction												AGTTGCATTAGGATCTGCCCC	0.353000													9	45					0	0	0.006214	0	0
CNTRL	11064	broad.mit.edu	37	9	123919802	123919802	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr9:123919802G>C	ENST00000373855.1	+	28	4680	c.4420G>C	c.(4420-4422)Gag>Cag	p.E1474Q	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1474Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.E922Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E922Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1474					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATTGCAAACTGAGTCAGATGC	0.408000													4	41					0	0	0.009096	0	0
CHD1L	9557	broad.mit.edu	37	1	146756095	146756095	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:146756095G>C	ENST00000369258.4	+	16	1797	c.1777G>C	c.(1777-1779)Gaa>Caa	p.E593Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.E312Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.E499Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.E389Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	593					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AAAATCATTTGAACAACTGGT	0.333000													8	88					0	0	0.006214	0	0
LCT	3938	broad.mit.edu	37	2	136547323	136547323	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:136547323G>A	ENST00000264162.2	-	16	5391	c.5381C>T	c.(5380-5382)gCg>gTg	p.A1794V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1794	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATTGTCCATCGCACTCCAAAC	0.483000													13	128					0	0	0.001368	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604343	140604343	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:140604343C>A	ENST00000239449.4	+	1	1266	c.1266C>A	c.(1264-1266)acC>acA	p.T422T	PCDHB14_ENST00000515856.2_Silent_p.T269T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		422	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACGATCACCGTCACAGACT	0.498000													10	141					0.00621372	0.00683145	0.006214	1	0
MGA	23269	broad.mit.edu	37	15	42041375	42041375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:42041375C>T	ENST00000219905.7	+	17	5751	c.5570C>T	c.(5569-5571)tCg>tTg	p.S1857L	MGA_ENST00000566586.1_Missense_Mutation_p.S1648L|MGA_ENST00000545763.1_Missense_Mutation_p.S1648L|MGA_ENST00000389936.4_Missense_Mutation_p.S1818L|MGA_ENST00000570161.1_Missense_Mutation_p.S1857L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1818						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCTTCCACTTCGTCCTCTGCT	0.443000													6	81					0	0	0.001984	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047735	42047735	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:42047735C>G	ENST00000372584.1	-	3	3748	c.2734G>C	c.(2734-2736)Gag>Cag	p.E912Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E912Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E912Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E912Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	912	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGGCCATCTCTGCCAGGCGC	0.592000													8	127					0	0	0.003080	0	0
SRGAP1	57522	broad.mit.edu	37	12	64437229	64437229	+	Silent	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:64437229A>G	ENST00000355086.3	+	6	1199	c.675A>G	c.(673-675)agA>agG	p.R225R	SRGAP1_ENST00000357825.3_Silent_p.R225R|SRGAP1_ENST00000543397.1_Silent_p.R185R|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	225					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CATTCCAGAGACAAGCAAAAT	0.333000													4	21					0	0	0.009096	0	0
MMP19	4327	broad.mit.edu	37	12	56232375	56232375	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:56232375G>A	ENST00000409200.3	-	5	769	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	MMP19_ENST00000322569.4_Intron|MMP19_ENST00000548629.1_Intron			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	0					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						ACAGCCTGGAGGGGAGGGGCC	0.617000													7	53					0	0	0.001984	0	0
AR	367	broad.mit.edu	37	X	66863140	66863140	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:66863140C>G	ENST00000374690.3	+	2	2183	c.1659C>G	c.(1657-1659)taC>taG	p.Y553*	AR_ENST00000396044.3_Nonsense_Mutation_p.Y553*|AR_ENST00000504326.1_Nonsense_Mutation_p.Y553*|AR_ENST00000396043.2_Nonsense_Mutation_p.Y21*|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	552	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTGACTATTACTTTCCACCCC	0.468000									Androgen Insensitivity Syndrome				7	58					0	0	0.003080	0	0
BBS1	582	broad.mit.edu	37	11	66282012	66282012	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:66282012C>T	ENST00000419755.3	+	4	484	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	BBS1_ENST00000318312.7_Missense_Mutation_p.P99S|BBS1_ENST00000393994.2_Missense_Mutation_p.P99S|BBS1_ENST00000455748.2_Missense_Mutation_p.P99S|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000537537.1_Silent_p.S2S																							GCAACATGAGCCCCGGACCCC	0.572000													13	184					0	0	0.001855	0	0
EPHA8	2046	broad.mit.edu	37	1	22915468	22915468	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:22915468T>C	ENST00000166244.3	+	5	1156	c.1084T>C	c.(1084-1086)Tac>Cac	p.Y362H	EPHA8_ENST00000538803.1_Missense_Mutation_p.Y362H|EPHA8_ENST00000374644.4_Missense_Mutation_p.Y362H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	362	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGACATCACCTACAATGCCGT	0.657000													4	27					0	0	0.000602	0	0
TREM2	54209	broad.mit.edu	37	6	41126515	41126515	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:41126515A>C	ENST00000373113.3	-	5	773	c.680T>G	c.(679-681)cTg>cGg	p.L227R	TREM2_ENST00000373122.4_3'UTR|TREM2_ENST00000338469.3_Silent_p.A162A	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	227					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGTGTCTCTCAGCCCTGCAAT	0.617000													10	93					0	0	0.006214	0	0
GPR98	84059	broad.mit.edu	37	5	89985761	89985761	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:89985761G>C	ENST00000405460.2	+	30	6670	c.6574G>C	c.(6574-6576)Gat>Cat	p.D2192H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2192	Calx-beta 15.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTCATTAATGATATCTATCC	0.393000													5	20					0	0	0.000602	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432960	140432960	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:140432960C>G	ENST00000306549.3	+	1	1982	c.1905C>G	c.(1903-1905)gaC>gaG	p.D635E		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		635	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGAGAGACCCCATGATGC	0.428000													7	107					0	0	0.004482	0	0
PDE3B	5140	broad.mit.edu	37	11	14865513	14865513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:14865513C>A	ENST00000282096.4	+	12	2814	c.2461C>A	c.(2461-2463)Cat>Aat	p.H821N	PDE3B_ENST00000455098.2_Missense_Mutation_p.H770N	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	821	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCTGCCATGCATGATTATGA	0.418000													23	62					1.42536e-11	2.02239e-11	0.004656	1	0
ALG13	79868	broad.mit.edu	37	X	110951607	110951607	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:110951607G>T	ENST00000394780.3	+	4	748	c.736G>T	c.(736-738)Gcc>Tcc	p.A246S	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.A142S	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	246	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CCTCTTTCGGGCCATTTCGGA	0.448000													12	146					7.93312e-07	1.02857e-06	0.002450	1	0
ADCK2	90956	broad.mit.edu	37	7	140390572	140390572	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr7:140390572A>C	ENST00000072869.4	+	7	1877	c.1699A>C	c.(1699-1701)Agc>Cgc	p.S567R	ADCK2_ENST00000476491.1_Missense_Mutation_p.S567R	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	567	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TCATGTGTCCAGCCTTCTCTC	0.547000													26	293					0	0	0.006320	0	0
OR5B21	219968	broad.mit.edu	37	11	58275352	58275352	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:58275352G>A	ENST00000360374.2	-	1	226	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CGTTTTGGGGGCTACAGCTGA	0.507000													6	54					0	0	0.003080	0	0
F8	2157	broad.mit.edu	37	X	154221309	154221309	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:154221309G>A	ENST00000360256.4	-	4	703	c.503C>T	c.(502-504)tCt>tTt	p.S168F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	168	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAGTGGGTCAGAGGCCATTGG	0.463000													16	193					0	0	0.006122	0	0
MBOAT2	129642	broad.mit.edu	37	2	9008594	9008594	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:9008594C>G	ENST00000305997.3	-	9	1167	c.969G>C	c.(967-969)ttG>ttC	p.L323F	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	323					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTGAATTCTCAAATTGGAAA	0.363000													8	58					0	0	0.003080	0	0
C19orf43	79002	broad.mit.edu	37	19	12842184	12842184	+	Missense_Mutation	SNP	C	C	A	rs11542951		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:12842184C>A	ENST00000242784.4	-	2	514	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	C19orf43_ENST00000588213.1_Missense_Mutation_p.S125I|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	133										endometrium(2)|large_intestine(2)	4						TGCTTCTTGGCTACTATTCCC	0.597000													11	58					3.07112e-06	3.90115e-06	0.010729	1	0
FIGN	55137	broad.mit.edu	37	2	164468312	164468312	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:164468312C>G	ENST00000333129.3	-	3	344	c.30G>C	c.(28-30)ttG>ttC	p.L10F	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	10						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTGCATCTTCAAGCCTAAGA	0.443000													3	42					0	0	0.004672	0	0
SDK2	54549	broad.mit.edu	37	17	71427671	71427671	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:71427671C>T	ENST00000392650.3	-	11	1450	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	SDK2_ENST00000388726.3_Missense_Mutation_p.D484N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	484	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAGGCCTCATCGACCCCCCGA	0.597000													19	172					0	0	0.010504	0	0
BICC1	80114	broad.mit.edu	37	10	60566792	60566792	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:60566792G>A	ENST00000373886.3	+	17	2254	c.2250G>A	c.(2248-2250)gaG>gaA	p.E750E	BICC1_ENST00000263103.1_Silent_p.E376E	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	750					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGGTGACGGAGGTCAGAACGC	0.398000													7	48					0	0	0.003080	0	0
STK11	6794	broad.mit.edu	37	19	1218415	1218415	+	Splice_Site	SNP	G	G	T	rs112675807		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:1218415G>T	ENST00000326873.7	+	2	1463		c.e2-1		STK11_ENST00000585748.1_Splice_Site	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGTCCCAGGGAAATTCAA	0.522000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			23	106					3.62473e-10	5.01066e-10	0.012319	1	0
PCDH9	5101	broad.mit.edu	37	13	67801390	67801390	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr13:67801390C>A	ENST00000544246.1	-	2	1874	c.1183G>T	c.(1183-1185)Gtg>Ttg	p.V395L	PCDH9_ENST00000377861.3_Missense_Mutation_p.V395L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V395L|PCDH9_ENST00000456367.1_Missense_Mutation_p.V395L|PCDH9_ENST00000377865.2_Missense_Mutation_p.V395L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	395	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGCCATTCACATCTGTGTCC	0.373000													4	82					0.00909568	0.00982752	0.009096	1	0
MUC16	94025	broad.mit.edu	37	19	9061796	9061796	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:9061796C>T	ENST00000397910.4	-	3	25853	c.25650G>A	c.(25648-25650)ccG>ccA	p.P8550P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8552	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGAAGGCTCGGCCATGGCA	0.498000													5	42					0	0	0.000602	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422873	37422873	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:37422873G>A	ENST00000374660.1	+	5	578	c.479G>A	c.(478-480)gGa>gAa	p.G160E	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G160E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G160E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTATGTCATGGATCATCAGAG	0.378000													11	137					0	0	0.001368	0	0
GPR176	11245	broad.mit.edu	37	15	40093560	40093560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:40093560C>A	ENST00000299092.3	-	4	1516	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	GPR176_ENST00000543580.1_Nonsense_Mutation_p.E396*|GPR176_ENST00000561100.1_Nonsense_Mutation_p.E441*	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	441					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GTTTCAGGTTCCACAGGGGCT	0.592000													6	140					0.00116845	0.00130755	0.001168	1	0
SI	6476	broad.mit.edu	37	3	164757724	164757724	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:164757724G>C	ENST00000264382.3	-	19	2257	c.2195C>G	c.(2194-2196)aCt>aGt	p.T732S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	732	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.T732N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAAAACTCAGTGTCCTCAAT	0.333000										HNSCC(35;0.089)			7	102					0	0	0.001984	0	0
SIRT7	51547	broad.mit.edu	37	17	79875977	79875977	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:79875977G>A	ENST00000328666.6	-	1	93	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	11	Arg-rich.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCGCTTTGCGCTCGGAGCGG	0.756000													5	39					0	0	0.001984	0	0
ZNF841	284371	broad.mit.edu	37	19	52568907	52568907	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:52568907C>A	ENST00000389534.4	-	7	2687	c.2228G>T	c.(2227-2229)gGg>gTg	p.G743V	ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000426391.2_Missense_Mutation_p.G627V|ZNF841_ENST00000594295.1_Missense_Mutation_p.G743V	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AAAGACTTTCCCACATTCAAT	0.393000													7	12					8.12818e-05	9.641e-05	0.001984	1	0
COL27A1	85301	broad.mit.edu	37	9	116930955	116930955	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr9:116930955G>T	ENST00000356083.3	+	3	1511	c.1120G>T	c.(1120-1122)Gcc>Tcc	p.A374S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	374	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAAGCCTTCGGCCCCTTCTAC	0.537000													10	99					1.58986e-06	2.04024e-06	0.008291	1	0
GHITM	27069	broad.mit.edu	37	10	85909813	85909813	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:85909813G>T	ENST00000372134.3	+	7	788	c.595G>T	c.(595-597)Gtg>Ttg	p.V199L		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	199					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TTCTCCAGGTGTGATGGGTGC	0.433000													17	62					3.5997e-14	5.22582e-14	0.002299	1	0
NUP98	4928	broad.mit.edu	37	11	3733881	3733881	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:3733881C>G	ENST00000324932.7	-	20	3075	c.2655G>C	c.(2653-2655)aaG>aaC	p.K885N	NUP98_ENST00000397004.4_Missense_Mutation_p.K885N|NUP98_ENST00000397007.4_Missense_Mutation_p.K902N|NUP98_ENST00000355260.3_Missense_Mutation_p.K885N|NUP98_ENST00000359171.4_Missense_Mutation_p.K885N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	902					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCTTCAACTTCTTTGTACTAG	0.478000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								9	109					0	0	0.008291	0	0
C17orf50	146853	broad.mit.edu	37	17	34091593	34091593	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:34091593G>A	ENST00000285023.4	+	3	513	c.481G>A	c.(481-483)Gat>Aat	p.D161N	C17orf50_ENST00000586491.1_Missense_Mutation_p.G131E|C17orf50_ENST00000588628.1_Missense_Mutation_p.G168E	NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	161													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCGTTCTGGATCACCCGGA	0.662000													12	23					0	0	0.003163	0	0
FREM2	341640	broad.mit.edu	37	13	39266294	39266294	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr13:39266294A>C	ENST00000280481.7	+	1	5029	c.4813A>C	c.(4813-4815)Aaa>Caa	p.K1605Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1605					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AATCAGCTACAAACATGATGG	0.418000													4	67					0	0	0.009096	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378876	55378876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:55378876G>T	ENST00000398661.2	-	6	733	c.602C>A	c.(601-603)tCt>tAt	p.S201Y	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.S139Y|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.S171Y|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.S139Y|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	201							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGTCTTGCAGACTTAACAAC	0.338000													6	32					5.9392e-07	7.72713e-07	0.001168	1	0
MUC4	4585	broad.mit.edu	37	3	195518150	195518150	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:195518150G>C	ENST00000463781.3	-	2	760	c.301C>G	c.(301-303)Ctt>Gtt	p.L101V	MUC4_ENST00000475231.1_Missense_Mutation_p.L101V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	101					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGAAAAAAGAGTTGATGTC	0.478000													7	75					0	0	0.001984	0	0
ATAD5	79915	broad.mit.edu	37	17	29205039	29205039	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:29205039G>A	ENST00000321990.4	+	17	4315	c.3937G>A	c.(3937-3939)Gaa>Aaa	p.E1313K		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1313					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AATTTTTGATGAAGATGCTGG	0.284000													7	84					0	0	0.001984	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576991	158576991	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:158576991G>C	ENST00000361284.1	+	1	763	c.763G>C	c.(763-765)Gct>Cct	p.A255P		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TTATGGCTGTGCTTCCTTCGT	0.512000													52	223					0	0	0.003610	0	0
ATP1B4	23439	broad.mit.edu	37	X	119513442	119513442	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:119513442G>A	ENST00000218008.3	+	8	1084	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	ATP1B4_ENST00000539306.1_Missense_Mutation_p.D300N|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D339N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	343					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGTCATCAATGATCGTTTTGT	0.453000													6	84					0	0	0.001168	0	0
PKLR	5313	broad.mit.edu	37	1	155264172	155264172	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:155264172C>G	ENST00000392414.3	-	7	990	c.877G>C	c.(877-879)Gat>Cat	p.D293H	PKLR_ENST00000342741.4_Missense_Mutation_p.D324H	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	324			D -> N (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.D324N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGATTTCATCAAACCTGAGA	0.562000													5	48					0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152284856	152284856	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:152284856C>T	ENST00000368799.1	-	3	2541	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	836	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACCATCTTGGGATGCT	0.587000									Ichthyosis				34	555					0	0	0.004878	0	0
ELF4	2000	broad.mit.edu	37	X	129201451	129201451	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:129201451A>C	ENST00000308167.5	-	9	1616	c.1237T>G	c.(1237-1239)Tcg>Gcg	p.S413A	ELF4_ENST00000335997.7_Missense_Mutation_p.S413A	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	413					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCGAGCCCGACCCCACGGGG	0.597000			T	ERG	AML								4	95					0	0	0.009096	0	0
CCBE1	147372	broad.mit.edu	37	18	57103325	57103325	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr18:57103325G>T	ENST00000439986.4	-	11	1073	c.1036C>A	c.(1036-1038)Cgc>Agc	p.R346S	CCBE1_ENST00000398179.2_Missense_Mutation_p.R75S	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	346					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.R346C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ATGTCATTGCGGATGTCAGCC	0.522000													13	118					3.27435e-08	4.41275e-08	0.002450	1	0
ABCG4	64137	broad.mit.edu	37	11	119027683	119027683	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:119027683G>A	ENST00000307417.3	+	9	1391	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000531739.1_Missense_Mutation_p.E343K|ABCG4_ENST00000449422.2_Missense_Mutation_p.E343K	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	343					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAGCAGCCCTGAGAAGAACGA	0.607000													8	104					0	0	0.006214	0	0
OR2G6	391211	broad.mit.edu	37	1	248685329	248685329	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:248685329C>A	ENST00000343414.4	+	1	414	c.382C>A	c.(382-384)Cgg>Agg	p.R128R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGTCTGCCGGCCACTGCG	0.597000													17	57					1.15088e-07	1.51304e-07	0.004007	1	0
JAK1	3716	broad.mit.edu	37	1	65332689	65332689	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:65332689C>T	ENST00000342505.4	-	7	1098	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	284	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCAAATATTTCAGCACCGTAA	0.398000			Mis		ALL								9	100					0	0	0.004482	0	0
INTS3	65123	broad.mit.edu	37	1	153740270	153740270	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:153740270C>T	ENST00000456435.1	+	21	2779	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L	INTS3_ENST00000435409.2_Silent_p.L737L|INTS3_ENST00000318967.2_Silent_p.L737L|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Silent_p.L531L			Q68E01	INT3_HUMAN	integrator complex subunit 3	738					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGTGCGGCTCCTGTGCCACC	0.592000													7	74					0	0	0.003080	0	0
LZTS1	11178	broad.mit.edu	37	8	20110422	20110422	+	Missense_Mutation	SNP	C	C	A	rs147904321		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr8:20110422C>A	ENST00000381569.1	-	3	1377	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	LZTS1_ENST00000522290.1_Missense_Mutation_p.Q340H|LZTS1_ENST00000265801.6_Missense_Mutation_p.Q340H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	340					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCCGCTTCTCCTGCTGAAGCT	0.642000													4	32					0.00024832	0.000286406	0.009096	1	0
KDM1B	221656	broad.mit.edu	37	6	18222215	18222215	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:18222215G>A	ENST00000388870.2	+	22	2705	c.2464G>A	c.(2464-2466)Gca>Aca	p.A822T	KDM1B_ENST00000297792.5_Missense_Mutation_p.A589T|KDM1B_ENST00000546309.2_Missense_Mutation_p.A112T|KDM1B_ENST00000397244.1_Missense_Mutation_p.A590T			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	821					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CAAGATTGCAGCATTTTAAGA	0.408000													5	51					0	0	0.000602	0	0
SNX15	29907	broad.mit.edu	37	11	64807160	64807160	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:64807160G>A	ENST00000377244.3	+	8	1055	c.925G>A	c.(925-927)Gac>Aac	p.D309N	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	309	MIT.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CTCCACAGGTGACCCGTTGCC	0.602000													5	14					0	0	0.001168	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528512	6528512	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:6528512G>A	ENST00000377748.1	-	21	3112	c.2615C>T	c.(2614-2616)tCt>tTt	p.S872F	PLEKHG5_ENST00000535355.1_Missense_Mutation_p.S864F|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.S795F|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.S851F|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.S874F|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.S832F|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.S795F	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	851					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCGTGGCAGATGAGGCAGT	0.637000													5	22					0	0	0.001168	0	0
KCNH5	27133	broad.mit.edu	37	14	63174541	63174541	+	Silent	SNP	C	C	A	rs143147156	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr14:63174541C>A	ENST00000322893.7	-	11	2920	c.2652G>T	c.(2650-2652)ccG>ccT	p.P884P	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	884					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTGCTCTAGCGGACTTCGGG	0.502000													16	100					4.7546e-09	6.47729e-09	0.004007	1	0
TCF20	6942	broad.mit.edu	37	22	42605678	42605678	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr22:42605678C>A	ENST00000359486.3	-	1	5770	c.5634G>T	c.(5632-5634)gcG>gcT	p.A1878A	TCF20_ENST00000335626.4_Silent_p.A1878A|TCF20_ENST00000404876.1_Silent_p.A179A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1878					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTATTTCCAGCGCTTCCTGCA	0.433000													5	116					3.59834e-05	4.33646e-05	0.001168	1	0
CSNK2A1	1457	broad.mit.edu	37	20	485802	485802	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:485802T>C	ENST00000217244.3	-	4	548	c.173A>G	c.(172-174)aAc>aGc	p.N58S	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.N58S|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.N58S	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	58	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATTTGTGATGTTGATGGCTTC	0.313000													5	28					0	0	0.001168	0	0
TAGAP	117289	broad.mit.edu	37	6	159456967	159456967	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:159456967G>T	ENST00000367066.3	-	10	2419	c.2088C>A	c.(2086-2088)acC>acA	p.T696T	RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Silent_p.T518T|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	696					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACTCGGAGACGGTCCTCAGCG	0.582000													10	38					2.17888e-05	2.65132e-05	0.006214	1	0
CPNE4	131034	broad.mit.edu	37	3	131388587	131388587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:131388587G>A	ENST00000512055.1	-	11	2739	c.613C>T	c.(613-615)Cca>Tca	p.P205S	CPNE4_ENST00000511604.1_Missense_Mutation_p.P205S|CPNE4_ENST00000429747.1_Missense_Mutation_p.P205S|CPNE4_ENST00000512332.1_Missense_Mutation_p.P223S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P223S			Q96A23	CPNE4_HUMAN	copine IV	205	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTCCAGGCTGGGCTTAAGTTA	0.428000													6	80					0	0	0.001168	0	0
CNR1	1268	broad.mit.edu	37	6	88854258	88854258	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:88854258C>T	ENST00000537554.1	-	2	4298	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	CNR1_ENST00000549716.1_Missense_Mutation_p.V185M|CNR1_ENST00000535130.1_Missense_Mutation_p.V246M|CNR1_ENST00000468898.1_Missense_Mutation_p.V213M|CNR1_ENST00000428600.2_Missense_Mutation_p.V246M|CNR1_ENST00000549890.1_Missense_Mutation_p.V246M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.V246M|CNR1_ENST00000369501.2_Missense_Mutation_p.V246M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	246				V -> A (in Ref. 5; AAD34320).	G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACGGCGATCACAATGGCTATG	0.527000													7	57					0	0	0.003080	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48132935	48132935	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:48132935G>A	ENST00000405493.2	-	24	2535	c.2326C>T	c.(2326-2328)Ctt>Ttt	p.L776F	RAPGEF3_ENST00000449771.2_Missense_Mutation_p.L818F|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L776F|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L709F|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L818F|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L776F	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	776					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCTTTGAGAAGAAGGGGCATG	0.602000													6	28					0	0	0.003080	0	0
CLCN3	1182	broad.mit.edu	37	4	170613428	170613428	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:170613428A>G	ENST00000513761.1	+	7	1452	c.893A>G	c.(892-894)tAc>tGc	p.Y298C	CLCN3_ENST00000504131.2_Missense_Mutation_p.Y281C|CLCN3_ENST00000360642.3_Missense_Mutation_p.Y298C|CLCN3_ENST00000347613.4_Missense_Mutation_p.Y298C	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	298					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATCTTTTCCTACCTCTTTCCA	0.358000													8	107					0	0	0.003080	0	0
HELZ	9931	broad.mit.edu	37	17	65103325	65103325	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:65103325G>C	ENST00000358691.5	-	31	5367	c.5201C>G	c.(5200-5202)tCt>tGt	p.S1734C	HELZ_ENST00000580168.1_Missense_Mutation_p.S1735C	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TACTGTTCGAGATGACAATGG	0.398000													7	147					0	0	0.001984	0	0
DLG1	1739	broad.mit.edu	37	3	196831852	196831852	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:196831852C>A	ENST00000346964.2	-	15	1756	c.1567G>T	c.(1567-1569)Gct>Tct	p.A523S	DLG1_ENST00000392382.2_Missense_Mutation_p.A490S|DLG1_ENST00000450955.1_Missense_Mutation_p.A490S|DLG1_ENST00000448528.2_Missense_Mutation_p.A523S|DLG1_ENST00000314062.3_Missense_Mutation_p.A472S|DLG1_ENST00000443183.1_Missense_Mutation_p.A407S|DLG1_ENST00000419354.1_Missense_Mutation_p.A523S|DLG1_ENST00000452595.1_Missense_Mutation_p.A407S|DLG1_ENST00000422288.1_Missense_Mutation_p.A472S|DLG1_ENST00000357674.4_Missense_Mutation_p.A490S	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	523	PDZ 3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCATGACTAGCAGCTCTGAGG	0.388000													4	47					0.00909568	0.00982752	0.009096	1	0
LRP1B	53353	broad.mit.edu	37	2	141680548	141680548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:141680548G>T	ENST00000389484.3	-	21	4276	c.3305C>A	c.(3304-3306)tCc>tAc	p.S1102Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1102	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTCCAACAGGAAAACTTGGT	0.443000										TSP Lung(27;0.18)			7	40					5.18039e-06	6.47119e-06	0.003080	1	0
KCNA4	3739	broad.mit.edu	37	11	30033840	30033840	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:30033840T>G	ENST00000328224.6	-	2	1619	c.386A>C	c.(385-387)gAg>gCg	p.E129A		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	129	Poly-Glu.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ttcctcctcctcctcatcttc	0.547000													6	41					0	0	0.001168	0	0
AFF2	2334	broad.mit.edu	37	X	148037467	148037467	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:148037467C>A	ENST00000370460.2	+	11	2371	c.1892C>A	c.(1891-1893)cCc>cAc	p.P631H	AFF2_ENST00000342251.3_Missense_Mutation_p.P598H|AFF2_ENST00000286437.5_Missense_Mutation_p.P272H|AFF2_ENST00000370457.5_Missense_Mutation_p.P598H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	631					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAAACAGCCCAAAAAAGTT	0.433000													15	134					0.00244969	0.00273319	0.002450	1	0
ESRRB	2103	broad.mit.edu	37	14	76948464	76948464	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr14:76948464A>T	ENST00000380887.2	+	4	692	c.620A>T	c.(619-621)aAg>aTg	p.K207M	ESRRB_ENST00000556177.1_Missense_Mutation_p.K207M|ESRRB_ENST00000261532.7_Missense_Mutation_p.K207M|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Missense_Mutation_p.K207M			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	207						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCTGCTAAAAAGCCATGTGAG	0.542000													5	42					0	0	0.000602	0	0
MEGF8	1954	broad.mit.edu	37	19	42853690	42853690	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:42853690A>C	ENST00000334370.4	+	13	2772	c.2137A>C	c.(2137-2139)Acg>Ccg	p.T713P	MEGF8_ENST00000251268.6_Missense_Mutation_p.T780P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	780						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGAGAAGGAGACGCGGCGGCT	0.647000													5	27					0	0	0.001168	0	0
ASXL2	55252	broad.mit.edu	37	2	25966745	25966745	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:25966745G>A	ENST00000435504.4	-	13	2754	c.2461C>T	c.(2461-2463)Cca>Tca	p.P821S	ASXL2_ENST00000404843.1_Missense_Mutation_p.P561S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P793S|ASXL2_ENST00000272341.4_Missense_Mutation_p.P561S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCTTGTGGATGGCTGACA	0.522000													16	199					0	0	0.004007	0	0
KRT7	3855	broad.mit.edu	37	12	52635264	52635264	+	Silent	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:52635264A>T	ENST00000331817.5	+	5	885	c.702A>T	c.(700-702)acA>acT	p.T234T		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	234	Coil 1B.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		AGGAGTTGACAGAGCTGCAGT	0.577000													4	64					0	0	0.001168	0	0
TM7SF2	7108	broad.mit.edu	37	11	64883032	64883032	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:64883032G>C	ENST00000279263.7	+	9	1220	c.1058G>C	c.(1057-1059)gGa>gCa	p.G353A	TM7SF2_ENST00000345348.5_Missense_Mutation_p.G326A|TM7SF2_ENST00000540748.1_Missense_Mutation_p.G237A	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	353					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AACTATCTTGGAGACCTCATC	0.592000													3	50					0	0	0.004672	0	0
ZBTB12	221527	broad.mit.edu	37	6	31869005	31869005	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:31869005G>A	ENST00000375527.2	-	2	253	c.78C>T	c.(76-78)ctC>ctT	p.L26L	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CCTCTGCCCGGAGCTGGTTCA	0.657000													4	36					0	0	0.009096	0	0
MID2	11043	broad.mit.edu	37	X	107160843	107160843	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:107160843C>A	ENST00000262843.6	+	7	1857	c.1309C>A	c.(1309-1311)Cag>Aag	p.Q437K	MID2_ENST00000443968.2_Missense_Mutation_p.Q437K|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	437	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTATGAGCTTCAGTACACCAT	0.488000													18	274					3.52763e-06	4.45097e-06	0.004990	1	0
SNHG14	104472715	broad.mit.edu	37	15	25425721	25425721	+	RNA	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:25425721G>A	ENST00000441592.2	+	0	575				SNORD115-6_ENST00000363942.1_RNA																							ATTACGCTGAGGCCCAGCCTA	0.502000													8	273					0	0	0.010729	0	0
CADPS2	93664	broad.mit.edu	37	7	122131426	122131426	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr7:122131426C>T	ENST00000334010.7	-	10	2012	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	CADPS2_ENST00000313070.7_Missense_Mutation_p.E531K|CADPS2_ENST00000449022.2_Missense_Mutation_p.E531K|CADPS2_ENST00000412584.2_Missense_Mutation_p.E531K	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	531	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTGTGGTTCAGACTTCTTT	0.353000													3	6					0	0	0.004672	0	0
HYOU1	10525	broad.mit.edu	37	11	118925964	118925964	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:118925964C>A	ENST00000404233.3	-	5	476	c.352G>T	c.(352-354)Gcc>Tcc	p.A118S	HYOU1_ENST00000529972.1_Missense_Mutation_p.A118S|HYOU1_ENST00000543287.1_Missense_Mutation_p.A31S|HYOU1_ENST00000525859.1_Missense_Mutation_p.A118S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	118						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGGAAGCGGGCCTGGTAAAGA	0.567000													16	102					8.60227e-14	1.24402e-13	0.004007	1	0
MAML1	9794	broad.mit.edu	37	5	179192956	179192956	+	Silent	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:179192956A>G	ENST00000292599.3	+	2	1208	c.945A>G	c.(943-945)ccA>ccG	p.P315P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	315					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGCTCTCCACAAGTGAGGG	0.552000													4	64					0	0	0.009096	0	0
DBF4B	80174	broad.mit.edu	37	17	42818707	42818707	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:42818707G>C	ENST00000315005.3	+	10	855	c.717G>C	c.(715-717)aaG>aaC	p.K239N	DBF4B_ENST00000398338.3_Intron|DBF4B_ENST00000393547.2_Missense_Mutation_p.K239N	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	239					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTTGCAGGAAGTTTCGTCCTT	0.493000													9	94					0	0	0.010729	0	0
TRIB1	10221	broad.mit.edu	37	8	126448348	126448348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr8:126448348G>T	ENST00000311922.3	+	3	1336	c.754G>T	c.(754-756)Gag>Tag	p.E252*	TRIB1_ENST00000519576.1_Nonsense_Mutation_p.E21*|TRIB1_ENST00000520847.1_Nonsense_Mutation_p.E86*	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	252	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CGTGAGCCCTGAGATCCTCAA	0.532000													5	62					1.23904e-05	1.5325e-05	0.000602	1	0
SPATA32	124783	broad.mit.edu	37	17	43333147	43333147	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:43333147C>G	ENST00000543122.1	-	6	1120	c.339G>C	c.(337-339)cgG>cgC	p.R113R	MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|SPATA32_ENST00000331780.4_Silent_p.R134R|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA					spermatogenesis associated 32																		CCGTGAAACTCCGGCAGTTTG	0.567000													6	107					0	0	0.001168	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622209	234622209	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:234622209C>G	ENST00000373414.3	+	1	572	c.572C>G	c.(571-573)tCc>tGc	p.S191C	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CCAAACCCTTCCTCCTATATT	0.478000													14	201					0	0	0.001855	0	0
MUC4	4585	broad.mit.edu	37	3	195516687	195516687	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:195516687C>T	ENST00000463781.3	-	2	2223	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	MUC4_ENST00000475231.1_Silent_p.Q588Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	593					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTTTTATCATCTGAGTCACAC	0.488000													25	335					0	0	0.005443	0	0
TARS2	80222	broad.mit.edu	37	1	150477190	150477190	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:150477190G>A	ENST00000369064.3	+	15	1835	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	TARS2_ENST00000606933.1_Missense_Mutation_p.E519K|TARS2_ENST00000369054.2_Missense_Mutation_p.E471K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	601					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGTGCTGGCAGAAAGCTGCGG	0.567000													8	153					0	0	0.003080	0	0
C10orf53	282966	broad.mit.edu	37	10	50916560	50916560	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:50916560G>A	ENST00000374112.3	+	3	383	c.371G>A	c.(370-372)gGa>gAa	p.G124E	C10orf53_ENST00000535836.1_Missense_Mutation_p.G124E	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				gcccagattggatcatgtatc	0.488000													19	181					0	0	0.007413	0	0
DIS3L	115752	broad.mit.edu	37	15	66621441	66621441	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:66621441G>A	ENST00000319194.5	+	13	2347	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.E779K	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	779					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCCTGTGCGGAGGAGGAGTT	0.468000													5	61					0	0	0.000602	0	0
CFB	629	broad.mit.edu	37	6	31911243	31911243	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:31911243C>G	ENST00000556679.1	+	9	1102	c.1047C>G	c.(1045-1047)gtC>gtG	p.V349V	C2_ENST00000299367.5_Silent_p.V502V|C2_ENST00000469372.1_Silent_p.V256V|C2_ENST00000442278.2_Silent_p.V370V|CFB_ENST00000477310.1_Silent_p.V273V|CFB_ENST00000456570.1_Silent_p.V349V|C2_ENST00000452323.2_Silent_p.V288V			P00751	CFAB_HUMAN	complement factor B	521	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCAATGGGTCCTGACAGCAG	0.597000													11	156					0	0	0.001855	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472433	69472433	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:69472433C>G	ENST00000303714.4	+	18	1833	c.1511C>G	c.(1510-1512)tCc>tGc	p.S504C		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	504					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TACCACAcctcctcgccgcct	0.642000									Familial Infantile Hemangioma				3	53					0	0	0.009096	0	0
INSRR	3645	broad.mit.edu	37	1	156823675	156823675	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:156823675C>G	ENST00000368195.3	-	2	902	c.506G>C	c.(505-507)gGc>gCc	p.G169A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	169					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCTTGTTGCCCACGATGTG	0.637000													11	29					0	0	0.010729	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403713	47403713	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:47403713G>T	ENST00000310638.4	-	2	323	c.292C>A	c.(292-294)Cag>Aag	p.Q98K	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q98K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q98K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	98					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCATAGAGCTGGACACGAACT	0.517000													10	86					2.17888e-05	2.65132e-05	0.006214	1	0
GNA12	2768	broad.mit.edu	37	7	2771079	2771079	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr7:2771079G>A	ENST00000275364.3	-	4	1044	c.882C>T	c.(880-882)ttC>ttT	p.F294F	GNA12_ENST00000396960.3_Silent_p.F146F|GNA12_ENST00000544127.1_Silent_p.F201F|GNA12_ENST00000407653.1_Silent_p.F218F|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407904.3_Silent_p.F235F|GNA12_ENST00000491117.1_5'UTR	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	294					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TCTTGTTGAGGAAGAGAATGA	0.557000													6	64					0	0	0.001168	0	0
LIPC	3990	broad.mit.edu	37	15	58853108	58853108	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:58853108C>G	ENST00000414170.3	+	8	1384	c.1097C>G	c.(1096-1098)aCa>aGa	p.T366R	LIPC_ENST00000433326.2_Missense_Mutation_p.T305R|LIPC_ENST00000356113.6_Missense_Mutation_p.T366R|LIPC_ENST00000299022.5_Missense_Mutation_p.T366R			P11150	LIPC_HUMAN	lipase, hepatic	366	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.T366K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAAACTGAGACACCAATACAA	0.393000													3	40					0	0	0.004672	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632712	122632712	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:122632712C>T	ENST00000195173.4	-	15	2428	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	SEMA5B_ENST00000451055.2_Missense_Mutation_p.E763K|SEMA5B_ENST00000357599.3_Missense_Mutation_p.E709K			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	709	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CACCGTTCCTCCCGGCTCTTG	0.662000													8	95					0	0	0.008291	0	0
TTLL4	9654	broad.mit.edu	37	2	219602948	219602948	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:219602948C>G	ENST00000392102.1	+	3	889	c.549C>G	c.(547-549)ctC>ctG	p.L183L	TTLL4_ENST00000258398.4_Silent_p.L183L|TTLL4_ENST00000457313.1_Silent_p.L18L|TTLL4_ENST00000442769.1_Silent_p.L183L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	183					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AACCATACCTCTGCTTGGCAG	0.567000													6	113					0	0	0.001168	0	0
PLG	5340	broad.mit.edu	37	6	161127552	161127552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:161127552G>T	ENST00000308192.9	+	2	226	c.163G>T	c.(163-165)Gag>Tag	p.E55*	PLG_ENST00000366924.2_Nonsense_Mutation_p.E55*|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	55	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAAATGTGAGGAGGACGAAGA	0.428000													18	99					1.01871e-10	1.41865e-10	0.008871	1	0
GPR112	139378	broad.mit.edu	37	X	135426905	135426905	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:135426905C>A	ENST00000394143.1	+	6	1331	c.1040C>A	c.(1039-1041)tCt>tAt	p.S347Y	GPR112_ENST00000412101.1_Missense_Mutation_p.S142Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S142Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S347Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S284Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	347					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAATCTCCATCTTCAGAAAGC	0.393000													6	47					0.00116845	0.00130755	0.001168	1	0
ZNF592	9640	broad.mit.edu	37	15	85345225	85345225	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:85345225G>A	ENST00000299927.3	+	8	3427	c.3405G>A	c.(3403-3405)tcG>tcA	p.S1135S	ZNF592_ENST00000560079.2_Silent_p.S1135S			Q92610	ZN592_HUMAN	zinc finger protein 592	1135					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACAGACTCGGGGCTCGAGT	0.562000													5	43					0	0	0.000602	0	0
SPINK5	11005	broad.mit.edu	37	5	147473998	147473998	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:147473998G>C	ENST00000359874.3	+	9	821	c.748G>C	c.(748-750)Gac>Cac	p.D250H	SPINK5_ENST00000256084.7_Missense_Mutation_p.D250H|SPINK5_ENST00000398454.1_Missense_Mutation_p.D250H|SPINK5_ENST00000476608.1_3'UTR	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	250	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGGCCCTGACGGCAGGAT	0.423000													4	94					0	0	0.000602	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316442	40316442	+	Silent	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:40316442T>G	ENST00000593685.1	-	11	2271	c.1803A>C	c.(1801-1803)ccA>ccC	p.P601P	DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000323039.5_Silent_p.P601P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000597639.1_Silent_p.P573P			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	601					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCGGGAGGGGTGGACGACCTC	0.716000													5	6					0	0	0.000602	0	0
CHIT1	1118	broad.mit.edu	37	1	203186907	203186907	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:203186907C>T	ENST00000367229.1	-	10	1150	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.Q363Q|CHIT1_ENST00000255427.3_Silent_p.Q353Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	372					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGTATCGGCCCTGGTTGCAGG	0.597000													4	61					0	0	0.000602	0	0
CACNA1S	779	broad.mit.edu	37	1	201009787	201009787	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:201009787G>T	ENST00000362061.3	-	42	5415	c.5189C>A	c.(5188-5190)gCa>gAa	p.A1730E	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.A1711E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1730					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCTGGGCATTGCCCTCTGGGT	0.607000													10	61					2.68362e-12	3.83666e-12	0.001368	1	0
C1QTNF9	338872	broad.mit.edu	37	13	24895869	24895869	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr13:24895869C>A	ENST00000382071.2	+	4	1050	c.965C>A	c.(964-966)aCa>aAa	p.T322K	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.T322K			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	322	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GACGATGACACAACTTTCACA	0.517000													16	172					0.000422831	0.000484709	0.004007	1	0
COL2A1	1280	broad.mit.edu	37	12	48372469	48372469	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:48372469C>T	ENST00000380518.3	-	42	2970	c.2806G>A	c.(2806-2808)Ggc>Agc	p.G936S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G867S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	936	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAGGGGGGCCGCTGTCTCCT	0.637000													6	33					0	0	0.001984	0	0
EIF6	3692	broad.mit.edu	37	20	33867912	33867912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:33867912C>T	ENST00000374450.3	-	5	643	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	EIF6_ENST00000374443.3_Missense_Mutation_p.E108K|EIF6_ENST00000374436.3_Missense_Mutation_p.E127K|EIF6_ENST00000462894.1_5'UTR	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	127					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCAGAATTTCTTCTGTCTCC	0.517000													6	156					0	0	0.001168	0	0
P2RY10	27334	broad.mit.edu	37	X	78216469	78216469	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:78216469G>C	ENST00000171757.2	+	4	732	c.452G>C	c.(451-453)gGc>gCc	p.G151A	P2RY10_ENST00000544091.1_Missense_Mutation_p.G151A|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	151						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TACGATGTGGGCATCAGTGCT	0.498000													23	71					0	0	0.012319	0	0
SV2C	22987	broad.mit.edu	37	5	75427941	75427941	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:75427941G>C	ENST00000502798.2	+	2	808	c.366G>C	c.(364-366)gaG>gaC	p.E122D	SV2C_ENST00000322285.7_Missense_Mutation_p.E122D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	122					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ACCGGCGGGAGCTGGAATCAG	0.547000													8	52					0	0	0.004482	0	0
ADCK1	57143	broad.mit.edu	37	14	78353523	78353523	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr14:78353523G>T	ENST00000238561.5	+	5	612	c.513G>T	c.(511-513)cgG>cgT	p.R171R	ADCK1_ENST00000341211.5_Silent_p.R103R	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	178	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATGATGGGCGGACGGTGGCCG	0.607000													8	98					0.000157383	0.000183777	0.003080	1	0
TRIML1	339976	broad.mit.edu	37	4	189068192	189068192	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:189068192G>T	ENST00000332517.3	+	6	1213	c.1073G>T	c.(1072-1074)tGc>tTc	p.C358F	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	358	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGGGCATCTGCAAGGACTCT	0.537000													9	66					0.000274275	0.000315374	0.004482	1	0
MGLL	11343	broad.mit.edu	37	3	127439934	127439934	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:127439934G>A	ENST00000434178.2	-	5	1338	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	MGLL_ENST00000265052.5_Silent_p.L158L|MGLL_ENST00000453507.2_Silent_p.L158L|MGLL_ENST00000398104.1_Silent_p.L148L|MGLL_ENST00000398101.3_Silent_p.L122L			Q99685	MGLL_HUMAN	monoglyceride lipase	148					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	p.L148L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCAAGAACCAGAGGCGAAATG	0.552000													6	48					0	0	0.001984	0	0
BTBD10	84280	broad.mit.edu	37	11	13435091	13435091	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:13435091T>G	ENST00000278174.5	-	6	1039	c.794A>C	c.(793-795)aAa>aCa	p.K265T	BTBD10_ENST00000528120.1_Missense_Mutation_p.K217T|BTBD10_ENST00000530907.1_Missense_Mutation_p.K273T	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	265						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATCTCTACATTTAATAGTGCT	0.323000													3	44					0	0	0.009096	0	0
TRIP13	9319	broad.mit.edu	37	5	908512	908512	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:908512A>T	ENST00000166345.3	+	9	1158	c.802A>T	c.(802-804)Acc>Tcc	p.T268S		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	268					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CAGGGCGGGCACCGAGCCATC	0.557000													8	59					0	0	0.003080	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691969	31691969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr21:31691969G>T	ENST00000360542.3	-	1	638	c.385C>A	c.(385-387)Ctc>Atc	p.L129I		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	129						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TAACTATTGAGCAGCGGCCTC	0.537000													29	156					1.39806e-14	2.03748e-14	0.008361	1	0
RBFOX1	54715	broad.mit.edu	37	16	7383027	7383027	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr16:7383027C>T	ENST00000355637.4	+	1	277	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000436368.2_Silent_p.L9L|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.L9L|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000535565.2_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	0					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGGAGTTCTCCTGCATCCTTA	0.483000													7	101					0	0	0.003080	0	0
GPR176	11245	broad.mit.edu	37	15	40093561	40093561	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:40093561C>T	ENST00000299092.3	-	4	1515	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	GPR176_ENST00000543580.1_Silent_p.V395V|GPR176_ENST00000561100.1_Silent_p.V440V	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	440					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TTTCAGGTTCCACAGGGGCTG	0.592000													6	142					0	0	0.001168	0	0
C17orf47	284083	broad.mit.edu	37	17	56621265	56621265	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:56621265C>G	ENST00000321691.3	-	1	464	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	95										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGGATGATTCTGTTCTTGGT	0.537000													5	55					0	0	0.000602	0	0
PACS1	55690	broad.mit.edu	37	11	65983614	65983614	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:65983614G>T	ENST00000320580.4	+	5	718	c.685G>T	c.(685-687)Gca>Tca	p.A229S		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	229					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TAATGAAGGCGCACTGGTGCT	0.537000													13	58					2.61681e-11	3.6851e-11	0.002450	1	0
GPRIN1	114787	broad.mit.edu	37	5	176025501	176025501	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:176025501C>A	ENST00000303991.4	-	2	1512	c.1335G>T	c.(1333-1335)gtG>gtT	p.V445V		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	445						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCTTTCCCACAGACACAC	0.532000													11	97					0.00010058	0.000118552	0.001368	1	0
MUC5B	727897	broad.mit.edu	37	11	1272009	1272009	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:1272009T>A	ENST00000447027.1	+	31	13966	c.13908T>A	c.(13906-13908)agT>agA	p.S4636R	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4633R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4633	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ccacaaccagtggctccacgg	0.642000													7	29					0	0	0.006214	0	0
CRTAM	56253	broad.mit.edu	37	11	122738175	122738175	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:122738175G>T	ENST00000227348.4	+	8	923	c.876G>T	c.(874-876)acG>acT	p.T292T	CRTAM_ENST00000533709.1_Silent_p.T93T	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	292					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGCTGCTCACGCTGGTGTCCT	0.418000													3	20					0.004672	0.00515153	0.004672	1	0
OR2T2	401992	broad.mit.edu	37	1	248616344	248616344	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:248616344G>T	ENST00000342927.3	+	1	268	c.246G>T	c.(244-246)atG>atT	p.M82I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M82I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCCAAGATGCTCCAGGACC	0.527000													11	200					6.31663e-08	8.39241e-08	0.003163	1	0
NGEF	25791	broad.mit.edu	37	2	233745891	233745891	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:233745891G>T	ENST00000264051.3	-	14	2185	c.1907C>A	c.(1906-1908)gCc>gAc	p.A636D	NGEF_ENST00000539537.1_Missense_Mutation_p.A359D|NGEF_ENST00000373552.4_Missense_Mutation_p.A544D	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	636	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGATGTCGGCGAGCTCCAG	0.662000													13	73					2.61681e-11	3.6851e-11	0.002450	1	0
LOXL1	4016	broad.mit.edu	37	15	74219600	74219600	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:74219600C>G	ENST00000261921.7	+	1	802	c.476C>G	c.(475-477)tCg>tGg	p.S159W	LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	159					protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCTCGGTCTCGGCTTCGGCC	0.711000													7	76					0	0	0.003080	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655756	40655756	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:40655756G>T	ENST00000406785.1	-	2	1854	c.1665C>A	c.(1663-1665)atC>atA	p.I555I	SLC8A1_ENST00000406391.2_Silent_p.I555I|SLC8A1_ENST00000405901.3_Silent_p.I555I|SLC8A1_ENST00000542024.1_Silent_p.I555I|SLC8A1_ENST00000408028.2_Silent_p.I555I|SLC8A1_ENST00000542756.1_Silent_p.I555I|SLC8A1_ENST00000405269.1_Silent_p.I555I|SLC8A1_ENST00000403092.1_Silent_p.I555I|SLC8A1_ENST00000402441.1_Silent_p.I555I|SLC8A1_ENST00000332839.4_Silent_p.I555I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	555	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACCTCCATGATGCCAATGC	0.458000													9	97					2.17888e-05	2.65132e-05	0.006214	1	0
LRP1	4035	broad.mit.edu	37	12	57590912	57590912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:57590912C>T	ENST00000243077.3	+	56	9506	c.9040C>T	c.(9040-9042)Cgc>Tgc	p.R3014C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3014	EGF-like 12; calcium-binding (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTATGCACCCCGCGGCGGCGA	0.637000													9	72					0	0	0.004482	0	0
SEC14L5	9717	broad.mit.edu	37	16	5038216	5038216	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr16:5038216C>G	ENST00000251170.7	+	4	460	c.280C>G	c.(280-282)Ctc>Gtc	p.L94V		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	94	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GAGGACGCTCCTCATCGAAGC	0.632000													5	38					0	0	0.000602	0	0
KIF19	124602	broad.mit.edu	37	17	72350304	72350304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:72350304G>A	ENST00000389916.4	+	18	2450	c.2312G>A	c.(2311-2313)aGg>aAg	p.R771K		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	771					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCTGCAGAGAGGAAGGAGATC	0.662000													5	84					0	0	0.000602	0	0
OR5J2	282775	broad.mit.edu	37	11	55944298	55944298	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:55944298G>T	ENST00000312298.1	+	1	205	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TCTTTCATTTGTGGATGCCTG	0.443000													10	147					0.000442599	0.000504295	0.006214	1	0
HUWE1	10075	broad.mit.edu	37	X	53616620	53616620	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:53616620G>T	ENST00000342160.3	-	35	4805	c.4348C>A	c.(4348-4350)Ctt>Att	p.L1450I	HUWE1_ENST00000218328.8_Missense_Mutation_p.L1450I|HUWE1_ENST00000262854.6_Missense_Mutation_p.L1450I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1450					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCATCAAGAAGGTGGAAGCAG	0.468000													9	93					0.00448238	0.00497161	0.004482	1	0
ATF2	1386	broad.mit.edu	37	2	175957959	175957959	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:175957959T>C	ENST00000264110.2	-	12	1313	c.1015A>G	c.(1015-1017)Aca>Gca	p.T339A	ATF2_ENST00000538946.1_Missense_Mutation_p.T321A|ATF2_ENST00000345739.5_Missense_Mutation_p.T281A|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000392544.1_Missense_Mutation_p.T339A|ATF2_ENST00000426833.3_Missense_Mutation_p.T321A|ATF2_ENST00000409437.1_Missense_Mutation_p.T223A|ATF2_ENST00000409635.1_Missense_Mutation_p.T281A|ATF2_ENST00000409499.1_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	339					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CGACCACTTGTACTTTGGGTC	0.413000													4	32					0	0	0.009096	0	0
GABRE	2564	broad.mit.edu	37	X	151128375	151128375	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:151128375C>A	ENST00000370325.1	-	6	773	c.720G>T	c.(718-720)tgG>tgT	p.W240C	GABRE_ENST00000393914.3_Missense_Mutation_p.W47C|GABRE_ENST00000370328.3_Missense_Mutation_p.W240C			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	240					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGAGCTTCCAGGAGTTCT	0.443000													8	81					0.000157383	0.000183777	0.003080	1	0
ZNF518B	85460	broad.mit.edu	37	4	10447569	10447569	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:10447569C>G	ENST00000326756.3	-	3	822	c.384G>C	c.(382-384)agG>agC	p.R128S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCTTAAAGTTCCTTACCTTAA	0.373000													7	86					0	0	0.001984	0	0
SLIT2	9353	broad.mit.edu	37	4	20525659	20525659	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:20525659A>G	ENST00000504154.1	+	14	1549	c.1297A>G	c.(1297-1299)Att>Gtt	p.I433V	SLIT2_ENST00000503823.1_Missense_Mutation_p.I433V|SLIT2_ENST00000503837.1_Missense_Mutation_p.I437V|SLIT2_ENST00000273739.5_Missense_Mutation_p.I437V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	433	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAACCCCTTTATTTGTGACTG	0.488000													6	146					0	0	0.003080	0	0
AC015849.16	0	broad.mit.edu	37	17	34236567	34236567	+	RNA	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:34236567G>A	ENST00000587132.1	-	0	1460																											CTGGAGTGATGATAAACCCCA	0.473000													6	33					0	0	0.001168	0	0
SH3TC2	79628	broad.mit.edu	37	5	148411177	148411177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:148411177C>G	ENST00000515425.1	-	9	1176	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E244Q|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E352Q	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	359							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAACACTCAGTCTGCTTA	0.537000													6	39					0	0	0.001168	0	0
ZNF41	7592	broad.mit.edu	37	X	47306910	47306910	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:47306910C>G	ENST00000377065.4	-	5	2898	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	ZNF41_ENST00000313116.7_Missense_Mutation_p.Q753H|ZNF41_ENST00000397050.2_Missense_Mutation_p.Q763H	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	795						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TAAAGGCCTTCTGACATTCTG	0.383000													13	70					0	0	0.001368	0	0
SMARCA1	6594	broad.mit.edu	37	X	128599538	128599538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:128599538G>A	ENST00000371122.4	-	23	3118	c.2989C>T	c.(2989-2991)Cag>Tag	p.Q997*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q985*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q985*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	997	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						AATCTAAACTGGGGAGCATTT	0.343000													5	66					0	0	0.000602	0	0
TP53	7157	broad.mit.edu	37	17	7573991	7573991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:7573991C>A	ENST00000269305.4	-	10	1225	c.1036G>T	c.(1036-1038)Gag>Tag	p.E346*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E346*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	346	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> A (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L344fs*23(2)|p.E346*(2)|p.L344fs*22(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCAAGGCCTCATTCAGCTCT	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	49					1.58986e-06	2.04024e-06	0.008291	1	0
ATP13A5	344905	broad.mit.edu	37	3	193068888	193068888	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:193068888A>T	ENST00000342358.4	-	7	826	c.709T>A	c.(709-711)Tcc>Acc	p.S237T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	237					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGACAATGGAGATAACAGTC	0.388000													5	22					0	0	0.000602	0	0
IFI6	2537	broad.mit.edu	37	1	27992960	27992960	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:27992960C>G	ENST00000361157.6	-	5	452	c.325G>C	c.(325-327)Ggt>Cgt	p.G109R	IFI6_ENST00000362020.4_Missense_Mutation_p.G113R|IFI6_ENST00000339145.4_Missense_Mutation_p.G117R	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	109					anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding			lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCAATATTACCTATGACGACG	0.537000													6	44					0	0	0.003080	0	0
OR4E2	26686	broad.mit.edu	37	14	22133768	22133768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr14:22133768G>T	ENST00000408935.1	+	1	472	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G158W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCACTCACTAGGGCAGACCTT	0.488000													15	114					2.32078e-09	3.19639e-09	0.003163	1	0
CLPB	81570	broad.mit.edu	37	11	72145270	72145270	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:72145270G>C	ENST00000437826.2	-	1	156	c.7C>G	c.(7-9)Cgc>Ggc	p.R3G	CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Silent_p.L83L|CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000294053.3_Silent_p.L83L|CLPB_ENST00000445069.2_Intron			Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	0					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCAGCCGCGAGGCATTTGG	0.692000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	69					0	0	0.006214	0	0
EPPK1	83481	broad.mit.edu	37	8	144945369	144945369	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr8:144945369C>G	ENST00000525985.1	-	2	2124	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q				P58107	EPIPL_HUMAN	epiplakin 1	685						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCGCGCTCAGCCGACAGC	0.612000													6	50					0	0	0.001168	0	0
FSD2	123722	broad.mit.edu	37	15	83456108	83456108	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:83456108T>G	ENST00000334574.8	-	2	216	c.35A>C	c.(34-36)gAc>gCc	p.D12A	FSD2_ENST00000541889.1_Missense_Mutation_p.D12A			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	12										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGTAGACCTGTCCAGCCCCAG	0.468000													6	64					0	0	0.001168	0	0
PTPRA	5786	broad.mit.edu	37	20	3005234	3005234	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:3005234G>A	ENST00000216877.6	+	16	1954	c.1554G>A	c.(1552-1554)ggG>ggA	p.G518G	PTPRA_ENST00000399903.2_Silent_p.G527G|PTPRA_ENST00000318266.5_Silent_p.G518G|PTPRA_ENST00000356147.3_Silent_p.G518G|PTPRA_ENST00000380393.3_Silent_p.G527G|PTPRA_ENST00000358719.4_Silent_p.G383G|PTPRA_ENST00000425918.2_Silent_p.G538G	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	527					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAATCCCAGGGACCAGCAACA	0.453000													7	121					0	0	0.001984	0	0
RHEBL1	121268	broad.mit.edu	37	12	49460259	49460259	+	Splice_Site	SNP	C	C	T	rs148047837		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:49460259C>T	ENST00000301068.6	-	5	571	c.332_splice	c.e5+1	p.R111_splice		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	111					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						GGCCACTTACCGGGTTTTCCC	0.483000													14	457					0	0	0.004007	0	0
PCNXL2	80003	broad.mit.edu	37	1	233161085	233161085	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:233161085C>A	ENST00000258229.8	-	26	4646	c.4412G>T	c.(4411-4413)gGc>gTc	p.G1471V	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G123V	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1471						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAGCAGCAGCCTCTGTCCTC	0.587000											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	81					0.000442599	0.000504295	0.006214	1	0
TECTA	7007	broad.mit.edu	37	11	121032845	121032845	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:121032845G>T	ENST00000392793.1	+	16	5309	c.5038G>T	c.(5038-5040)Gtg>Ttg	p.V1680L	TECTA_ENST00000264037.2_Missense_Mutation_p.V1680L			O75443	TECTA_HUMAN	tectorin alpha	1680	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGTGACAATGTGCACATCCA	0.537000													10	93					2.17888e-05	2.65132e-05	0.006214	1	0
VSIG4	11326	broad.mit.edu	37	X	65253491	65253491	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:65253491C>T	ENST00000455586.2	-	2	363	c.237G>A	c.(235-237)caG>caA	p.Q79Q	VSIG4_ENST00000412866.2_Silent_p.Q79Q|VSIG4_ENST00000374737.4_Silent_p.Q79Q	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	79	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTACTTTGCCTGCTGGATAT	0.547000													13	101					0	0	0.001855	0	0
SCN3A	6328	broad.mit.edu	37	2	165947170	165947170	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:165947170T>A	ENST00000360093.3	-	28	5984	c.5493A>T	c.(5491-5493)aaA>aaT	p.K1831N	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.K1831N|SCN3A_ENST00000540861.1_Missense_Mutation_p.K314N|SCN3A_ENST00000409101.3_Missense_Mutation_p.K1782N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1831						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TAAGCTGGACTTTGTTGGGTT	0.453000													9	99					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179591958	179591958	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:179591958C>T	ENST00000589042.1	-	69	20358	c.20134G>A	c.(20134-20136)Gat>Aat	p.D6712N	TTN_ENST00000591111.1_Missense_Mutation_p.D6395N|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5468N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6395	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACTTATCACTGGCTGGA	0.443000													7	52					0	0	0.003080	0	0
OSGIN1	29948	broad.mit.edu	37	16	83999139	83999139	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr16:83999139G>C	ENST00000343939.2	+	7	1593	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	OSGIN1_ENST00000361711.3_Missense_Mutation_p.D321H|OSGIN1_ENST00000393306.1_Missense_Mutation_p.D321H			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	404					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGCCGTGGACGACCCTGGCCT	0.652000													4	46					0	0	0.009096	0	0
RYR3	6263	broad.mit.edu	37	15	34151830	34151830	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:34151830G>C	ENST00000389232.4	+	100	14267	c.14197G>C	c.(14197-14199)Gaa>Caa	p.E4733Q	RYR3_ENST00000415757.3_Missense_Mutation_p.E4728Q|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4733					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATTGGTGATGAAATTGAAGA	0.423000													4	41					0	0	0.009096	0	0
OR52E8	390079	broad.mit.edu	37	11	5878756	5878756	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:5878756C>A	ENST00000537935.1	-	1	208	c.177G>T	c.(175-177)caG>caT	p.Q59H	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGAGACTCTGCTCAGTCT	0.468000													21	117					1.64113e-05	2.02317e-05	0.010504	1	0
ADCY9	115	broad.mit.edu	37	16	4164189	4164189	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr16:4164189G>A	ENST00000294016.3	-	2	1793	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	419	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGATCGTTCAGGAGACCCACC	0.532000													10	65					0	0	0.006214	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764329	22764329	+	RNA	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr22:22764329C>T	ENST00000390299.2	+	0	122																											TCTGTGCTGACGCAGCCGCCC	0.577000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	172					0	0	0.003080	0	0
PRDM9	56979	broad.mit.edu	37	5	23526991	23526991	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:23526991C>A	ENST00000296682.3	+	11	1976	c.1794C>A	c.(1792-1794)caC>caA	p.H598Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	598					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCACTCACCAGAGGACAC	0.597000										HNSCC(3;0.000094)			11	104					3.52763e-06	4.45097e-06	0.004990	1	0
OTOGL	283310	broad.mit.edu	37	12	80750261	80750261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:80750261G>T	ENST00000458043.2	+	47	5851	c.5845G>T	c.(5845-5847)Ggc>Tgc	p.G1949C	OTOGL_ENST00000547103.1_Missense_Mutation_p.G1937C|OTOGL_ENST00000546620.1_5'UTR	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTGATTGTTGGCCACAGTCC	0.323000													4	58					0.00024832	0.000286406	0.009096	1	0
KCNU1	157855	broad.mit.edu	37	8	36766899	36766899	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr8:36766899C>G	ENST00000399881.3	+	21	2214	c.2177C>G	c.(2176-2178)tCa>tGa	p.S726*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	726	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATGCCCACTCAGCCCCGATG	0.468000													33	236					0	0	0.004289	0	0
C11orf54	28970	broad.mit.edu	37	11	93488502	93488502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:93488502C>T	ENST00000528288.1	+	6	692	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	C11orf54_ENST00000540113.1_Nonsense_Mutation_p.Q134*|C11orf54_ENST00000331239.4_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000528099.1_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000354421.3_Nonsense_Mutation_p.Q153*	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	153						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCATGATTTTCAGTGTGCATT	0.423000													4	42					0	0	0.009096	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905639	54905639	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:54905639G>A	ENST00000474759.1	+	18	1748	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R567Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R473Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R567Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	567						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGGAAGACCGAGATGACGTG	0.493000													4	47					0	0	0.001168	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047774	42047774	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:42047774C>G	ENST00000372584.1	-	3	3709	c.2695G>C	c.(2695-2697)Gag>Cag	p.E899Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E899Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E899Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E899Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	899	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCAGCTTCTCAGCTGGGAGC	0.622000													8	86					0	0	0.004482	0	0
TG	7038	broad.mit.edu	37	8	133883593	133883593	+	Splice_Site	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr8:133883593G>T	ENST00000220616.4	+	4	315	c.274_splice	c.e4-1	p.C92_splice	TG_ENST00000377869.1_Splice_Site_p.C92_splice	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	92	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTACCCACAGGTCTGTCATTT	0.507000													13	95					1.5842e-08	2.15039e-08	0.001855	1	0
ANK2	287	broad.mit.edu	37	4	114274912	114274912	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:114274912A>T	ENST00000357077.4	+	38	5191	c.5138A>T	c.(5137-5139)aAa>aTa	p.K1713I	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.K1680I|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1680					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAAGCAGAAACAAAAAGAG	0.403000													8	114					0	0	0.004482	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606644	13606644	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:13606644G>C	ENST00000040738.5	-	10	2015	c.1880C>G	c.(1879-1881)cCa>cGa	p.P627R		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	627	Lys-rich.						DNA binding										AGGTTTACTTGGTTCACTTTT	0.353000													7	51					0	0	0.001984	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685379	125685379	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:125685379C>A	ENST00000371126.1	-	1	1455	c.1213G>T	c.(1213-1215)Gcc>Tcc	p.A405S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	405								p.A405S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGCCACAGGCAAGCCTGAGC	0.557000													15	110					1.5739e-10	2.18371e-10	0.004007	1	0
RUSC1	23623	broad.mit.edu	37	1	155292113	155292113	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:155292113C>A	ENST00000368352.5	+	2	700	c.549C>A	c.(547-549)aaC>aaA	p.N183K	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.N183K|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	183						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CGAACTGCAACGCCCTGACCA	0.627000													6	104					0.00307968	0.00342592	0.003080	1	0
LDOC1	23641	broad.mit.edu	37	X	140270995	140270995	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:140270995G>C	ENST00000370526.2	-	1	315	c.212C>G	c.(211-213)aCg>aGg	p.T71R	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	71					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GTAAGACGCCGTCTGCACGAT	0.622000													9	91					0	0	0.004482	0	0
KCNA4	3739	broad.mit.edu	37	11	30033664	30033664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:30033664C>A	ENST00000328224.6	-	2	1795	c.562G>T	c.(562-564)Gag>Tag	p.E188*		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	188						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.E188K(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATTTGGGTCTCAAAGCGTAGG	0.498000													15	39					1.3612e-06	1.75881e-06	0.003163	1	0
ZNF521	25925	broad.mit.edu	37	18	22804498	22804498	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr18:22804498C>T	ENST00000361524.3	-	4	3532	c.3384G>A	c.(3382-3384)gaG>gaA	p.E1128E	ZNF521_ENST00000538137.2_Silent_p.E1128E|ZNF521_ENST00000584787.1_Silent_p.E908E	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1128					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCCTTTCCCCTCAATGGCAC	0.542000			T	PAX5	ALL								9	51					0	0	0.004482	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000													4	44					0	0	0.009096	0	0
PRAM1	84106	broad.mit.edu	37	19	8563881	8563881	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:8563881T>C	ENST00000423345.4	-	2	1331	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E	PRAM1_ENST00000255612.3_Missense_Mutation_p.K271E			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	319	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GAGGCCTTTTTGGGAAAGGCG	0.632000													14	40					0	0	0.002450	0	0
TM2D1	83941	broad.mit.edu	37	1	62190779	62190779	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:62190779C>G	ENST00000371177.2	-	1	26	c.14G>C	c.(13-15)tGg>tCg	p.W5S	TM2D1_ENST00000294613.5_Missense_Mutation_p.W5S|TM2D1_ENST00000371180.2_Missense_Mutation_p.W67S|TM2D1_ENST00000606498.1_Missense_Mutation_p.W5S			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	5					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						ACCAGACGGCCAGGCGGCCGC	0.652000													7	81					0	0	0.004482	0	0
TNS4	84951	broad.mit.edu	37	17	38643291	38643291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:38643291C>A	ENST00000254051.6	-	4	1443	c.1285G>T	c.(1285-1287)Gag>Tag	p.E429*		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	429					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GACGTACCCTCTGGGCATGTG	0.512000													23	347					6.21321e-17	9.09015e-17	0.002780	1	0
GABRE	2564	broad.mit.edu	37	X	151124235	151124235	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:151124235G>C	ENST00000370325.1	-	7	935	c.882C>G	c.(880-882)ctC>ctG	p.L294L	GABRE_ENST00000370328.3_Silent_p.L294L|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	294					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AAACCCAGGAGAGCATCGTGG	0.498000													7	105					0	0	0.001984	0	0
ZNF526	116115	broad.mit.edu	37	19	42729969	42729969	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:42729969C>T	ENST00000301215.3	+	3	1639	c.1414C>T	c.(1414-1416)Cac>Tac	p.H472Y		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGAACGGCGTCACCGCTGTGG	0.652000													12	107					0	0	0.002450	0	0
LRP2	4036	broad.mit.edu	37	2	170042448	170042448	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:170042448C>G	ENST00000263816.3	-	50	9695	c.9410G>C	c.(9409-9411)tGt>tCt	p.C3137S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3137	EGF-like 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCAGGACGACAGGAACAATA	0.438000													7	66					0	0	0.001984	0	0
NID1	4811	broad.mit.edu	37	1	236205225	236205225	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:236205225C>G	ENST00000264187.6	-	4	1202	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	NID1_ENST00000366595.3_Missense_Mutation_p.E374Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	374					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCTGTTTCCTCAACTTCATCC	0.512000													11	67					0	0	0.010729	0	0
SOX8	30812	broad.mit.edu	37	16	1034985	1034985	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr16:1034985C>A	ENST00000293894.3	+	3	1055	c.940C>A	c.(940-942)Ccc>Acc	p.P314T		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	314					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGGGGCGTCCCCCGTGTGGGC	0.756000													5	11					1.23904e-05	1.5325e-05	0.000602	1	0
OR5L1	219437	broad.mit.edu	37	11	55579362	55579362	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:55579362G>T	ENST00000333973.2	+	1	509	c.420G>T	c.(418-420)gtG>gtT	p.V140V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTTGGAAGGTGCGTGTGGAGC	0.502000													14	106					0.000151284	0.000177759	0.001855	1	0
ELF2	1998	broad.mit.edu	37	4	139983041	139983041	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:139983041C>T	ENST00000394235.2	-	8	1250	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	ELF2_ENST00000379550.1_Missense_Mutation_p.E262K|ELF2_ENST00000510408.1_Missense_Mutation_p.E190K|ELF2_ENST00000265495.4_Missense_Mutation_p.E250K|ELF2_ENST00000379549.2_Missense_Mutation_p.E173K|ELF2_ENST00000358635.3_Missense_Mutation_p.E202K	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	262					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CCCATGGTTTCATAGTTCATG	0.358000													6	46					0	0	0.001984	0	0
CARM1	10498	broad.mit.edu	37	19	11032406	11032406	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:11032406G>A	ENST00000327064.4	+	16	1990	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	CARM1_ENST00000344150.4_Silent_p.P577P	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	600	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TGTCCATCCCGACCAACACCA	0.672000													8	84					0	0	0.006214	0	0
TRRAP	8295	broad.mit.edu	37	7	98528293	98528293	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr7:98528293G>C	ENST00000359863.4	+	25	3640	c.3431G>C	c.(3430-3432)cGc>cCc	p.R1144P	TRRAP_ENST00000446306.3_Missense_Mutation_p.R1143P|TRRAP_ENST00000355540.3_Missense_Mutation_p.R1144P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1144					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCGTGGAGCGCCTGTGTGCA	0.493000													16	186					0	0	0.004007	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760837	15760837	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:15760837G>A	ENST00000221307.7	+	7	810	c.762G>A	c.(760-762)caG>caA	p.Q254Q	CYP4F3_ENST00000591058.1_Silent_p.Q254Q|CYP4F3_ENST00000585846.1_Silent_p.Q254Q|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Silent_p.Q254Q	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	254					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTGATGGGCAGCGTTTCCGCA	0.577000													37	103					0	0	0.005524	0	0
KCTD19	146212	broad.mit.edu	37	16	67325290	67325290	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr16:67325290G>T	ENST00000304372.5	-	14	2542	c.2487C>A	c.(2485-2487)gaC>gaA	p.D829E		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	829						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCATGATGATGTCAGCCAGGA	0.517000													4	47					0.000602214	0.000679978	0.000602	1	0
ADCY1	107	broad.mit.edu	37	7	45614412	45614412	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr7:45614412G>T	ENST00000297323.7	+	1	292	c.270G>T	c.(268-270)ctG>ctT	p.L90L	ADCY1_ENST00000432715.1_Intron	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	90					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	cgcccggccTGGCCAAGGGCT	0.751000													4	20					0.00024832	0.000286406	0.009096	1	0
BAHCC1	57597	broad.mit.edu	37	17	79410070	79410070	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:79410070G>C	ENST00000307745.7	+	9	1695	c.1695G>C	c.(1693-1695)aaG>aaC	p.K565N																								CTGAGGCCAAGCGCAAGTCCC	0.716000													4	42					0	0	0.009096	0	0
MUC4	4585	broad.mit.edu	37	3	195516684	195516684	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:195516684C>T	ENST00000463781.3	-	2	2226	c.1767G>A	c.(1765-1767)atG>atA	p.M589I	MUC4_ENST00000475231.1_Missense_Mutation_p.M589I|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	594					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCGTTTTTATCATCTGAGTCA	0.478000													24	338					0	0	0.004656	0	0
HSPA12B	116835	broad.mit.edu	37	20	3725682	3725682	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:3725682G>C	ENST00000254963.2	+	5	545	c.400G>C	c.(400-402)Gcg>Ccg	p.A134P	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	134							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCCCGAAGAGGCGCGGGACTG	0.622000													21	203					0	0	0.012319	0	0
GPT	2875	broad.mit.edu	37	8	145730156	145730156	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr8:145730156C>G	ENST00000394955.2	+	3	478	c.255C>G	c.(253-255)gtC>gtG	p.V85V	GPT_ENST00000528431.1_Silent_p.V85V	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	85					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTCCCAGGTCTTGGCCCTCT	0.647000													29	296					0	0	0.009535	0	0
TP53I3	9540	broad.mit.edu	37	2	24305854	24305854	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:24305854C>T	ENST00000238721.4	-	2	1161	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TP53I3_ENST00000335934.4_Missense_Mutation_p.E103K|TP53I3_ENST00000417886.1_Intron|TP53I3_ENST00000313482.4_Missense_Mutation_p.E103K|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.E103K	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	103					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGCCCTTCGGGGACAGTG	0.652000													4	41					0	0	0.009096	0	0
TTYH3	80727	broad.mit.edu	37	7	2696097	2696097	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr7:2696097C>T	ENST00000258796.7	+	11	1384	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	TTYH3_ENST00000403167.1_Silent_p.L222L|TTYH3_ENST00000407643.1_Silent_p.L361L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	393						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		ACCTGGCCCTCTTCTCCTTCG	0.627000													10	84					0	0	0.006214	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47582495	47582495	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:47582495G>C	ENST00000371917.4	+	8	994	c.994G>C	c.(994-996)Gat>Cat	p.D332H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	332					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCCAGGAGTTGATGAAAACTC	0.483000													5	29					0	0	0.000602	0	0
SYNJ2	8871	broad.mit.edu	37	6	158492658	158492658	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:158492658G>C	ENST00000355585.4	+	15	2040	c.1965G>C	c.(1963-1965)aaG>aaC	p.K655N	SYNJ2_ENST00000367122.2_Missense_Mutation_p.K655N|SYNJ2_ENST00000367121.3_Missense_Mutation_p.K655N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	655							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACACAGTGAAGACGGGCATGG	0.612000													6	75					0	0	0.001984	0	0
UAP1	6675	broad.mit.edu	37	1	162557435	162557435	+	Silent	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:162557435A>T	ENST00000271469.3	+	6	1307	c.1005A>T	c.(1003-1005)gtA>gtT	p.V335V	UAP1_ENST00000367925.1_Silent_p.V335V|UAP1_ENST00000367926.4_Silent_p.V335V|UAP1_ENST00000367924.1_Silent_p.V335V			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	335					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCTTCACTGTACCATTTCTGA	0.418000													15	148					0	0	0.004007	0	0
RNF169	254225	broad.mit.edu	37	11	74547638	74547638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:74547638C>T	ENST00000299563.4	+	6	2003	c.1990C>T	c.(1990-1992)Cag>Tag	p.Q664*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	664							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GCAGAAGCTTCAGCAAGAGGA	0.537000													6	75					0	0	0.001168	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063206	41063206	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:41063206G>A	ENST00000352632.3	+	26	5653	c.5567G>A	c.(5566-5568)cGg>cAg	p.R1856Q	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R532Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R599Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1856					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAGCGGAGGCGGCTGCCCCGC	0.647000													6	59					0	0	0.001168	0	0
COL13A1	1305	broad.mit.edu	37	10	71707089	71707089	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:71707089G>A	ENST00000356340.3	+	36	2552	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K	COL13A1_ENST00000398974.3_Silent_p.K660K|COL13A1_ENST00000354547.3_Silent_p.K650K|COL13A1_ENST00000517713.1_Silent_p.K623K|COL13A1_ENST00000398968.3_Silent_p.K653K|COL13A1_ENST00000522165.1_Silent_p.K641K|COL13A1_ENST00000398973.3_Silent_p.K646K|COL13A1_ENST00000357811.3_Silent_p.K638K|COL13A1_ENST00000398971.3_Silent_p.K657K|COL13A1_ENST00000520133.1_Silent_p.K594K|COL13A1_ENST00000398972.3_Silent_p.K658K|COL13A1_ENST00000398978.3_Silent_p.K672K|COL13A1_ENST00000520267.1_Silent_p.K600K|COL13A1_ENST00000398966.3_Silent_p.K650K|COL13A1_ENST00000398969.3_Silent_p.K600K|COL13A1_ENST00000398964.3_Silent_p.K643K			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	672	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCGGGGACAAGGGAAACCGGG	0.527000													6	48					0	0	0.001984	0	0
DMD	1756	broad.mit.edu	37	X	32841411	32841411	+	Splice_Site	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:32841411C>A	ENST00000357033.4	-	5	564		c.e5+1		DMD_ENST00000288447.4_Splice_Site|DMD_ENST00000378677.2_Splice_Site	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						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			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)				AGGATTCTTACCTGCCAGTGG	0.328000													5	113					3.59834e-05	4.33646e-05	0.001168	1	0
THAP9	79725	broad.mit.edu	37	4	83838125	83838125	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:83838125G>A	ENST00000302236.5	+	5	811	c.760G>A	c.(760-762)Ggt>Agt	p.G254S	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	254							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ACCCAGTCCAGGTTTCAACAG	0.348000													7	74					0	0	0.001984	0	0
SELPLG	6404	broad.mit.edu	37	12	109017937	109017937	+	Silent	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:109017937T>C	ENST00000388962.3	-	2	306	c.147A>G	c.(145-147)ctA>ctG	p.L49L	SELPLG_ENST00000550948.1_Silent_p.L49L|SELPLG_ENST00000228463.6_Silent_p.L65L	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	49					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						AATCATAATCTAGGTACTCAT	0.572000													3	54					0	0	0.009096	0	0
SGPL1	8879	broad.mit.edu	37	10	72633268	72633268	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:72633268C>T	ENST00000373202.3	+	12	1420	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	407					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TGTTGGGCTGCCTTGATGCAC	0.522000													6	114					0	0	0.001168	0	0
FAT4	79633	broad.mit.edu	37	4	126240995	126240995	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:126240995G>C	ENST00000394329.3	+	1	3442	c.3429G>C	c.(3427-3429)caG>caC	p.Q1143H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1143	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGGTGCAGCCAGATTTTG	0.453000													6	113					0	0	0.001168	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124235710	124235710	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:124235710C>T	ENST00000330342.3	+	16	2237	c.1989C>T	c.(1987-1989)ctC>ctT	p.L663L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	663					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TCCCTGTCCTCTTCTTGGGAA	0.502000													19	126					0	0	0.006122	0	0
TBX5	6910	broad.mit.edu	37	12	114793577	114793577	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:114793577C>G	ENST00000310346.4	-	9	1983	c.1317G>C	c.(1315-1317)ctG>ctC	p.L439L	TBX5_ENST00000349716.5_Silent_p.L389L|TBX5_ENST00000405440.2_Silent_p.L439L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	439				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCATGCCAGCCAGCCGAGGGA	0.662000													4	28					0	0	0.009096	0	0
OR7G2	390882	broad.mit.edu	37	19	9213383	9213383	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:9213383A>T	ENST00000305456.2	-	1	599	c.600T>A	c.(598-600)tgT>tgA	p.C200*		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GAGCCAGTTCACAGAAGAAGA	0.473000													6	48					0	0	0.001168	0	0
MBTD1	54799	broad.mit.edu	37	17	49280153	49280153	+	Silent	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:49280153A>G	ENST00000586178.1	-	10	1315	c.972T>C	c.(970-972)gaT>gaC	p.D324D	MBTD1_ENST00000376381.2_Silent_p.D324D|MBTD1_ENST00000415868.1_Silent_p.D324D	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	324					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CATCTGTTCTATCTTCGCTTT	0.423000													9	117					0	0	0.006214	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													4	71					0	0	0.009096	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916873	178916873	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:178916873G>C	ENST00000263967.3	+	2	417	c.260G>C	c.(259-261)aGa>aCa	p.R87T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	87	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GATGAAACAAGACGACTTTGT	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	63					0	0	0.009096	0	0
MTMR8	55613	broad.mit.edu	37	X	63445529	63445529	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:63445529A>T	ENST00000453546.1	-	10	1216	c.1127T>A	c.(1126-1128)aTg>aAg	p.M376K	ASB12_ENST00000362002.2_Start_Codon_SNP_p.M1K			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AACTATTCTCATTATGAGCAC	0.493000													3	8					0	0	0.004672	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509705	106509705	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr7:106509705C>G	ENST00000359195.3	+	2	2009	c.1699C>G	c.(1699-1701)Ctc>Gtc	p.L567V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.L567V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.L567V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	567					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACTTAACCCTCTCACAGCAGA	0.502000													5	55					0	0	0.000602	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982333	9982333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:9982333G>T	ENST00000506583.1	-	7	694	c.477C>A	c.(475-477)taC>taA	p.Y159*	SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.Y159*|SLC2A9_ENST00000264784.3_Nonsense_Mutation_p.Y188*			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	188					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCTCACTAAGGTACATGGGGA	0.567000													8	31					4.68919e-08	6.2745e-08	0.008291	1	0
MYH1	4619	broad.mit.edu	37	17	10419566	10419566	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:10419566G>A	ENST00000226207.5	-	4	392	c.298C>T	c.(298-300)Cct>Tct	p.P100S	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	100	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCACAGCAGGCTCGTGTAGA	0.463000													17	110					0	0	0.004990	0	0
C5orf15	56951	broad.mit.edu	37	5	133295282	133295282	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:133295282G>C	ENST00000231512.3	-	2	771	c.569C>G	c.(568-570)tCa>tGa	p.S190*	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	190						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TTCTATATTTGAGGATGGCAT	0.388000													7	50					0	0	0.001984	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603915	140603915	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:140603915A>T	ENST00000239449.4	+	1	838	c.838A>T	c.(838-840)Aca>Tca	p.T280S	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T127S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		280	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATATCTTACACATTTTTCCA	0.408000													5	37					0	0	0.000602	0	0
EPHA3	2042	broad.mit.edu	37	3	89259011	89259011	+	Splice_Site	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:89259011G>A	ENST00000336596.2	+	3	380	c.153_splice	c.e3-1	p.W52_splice	EPHA3_ENST00000494014.1_Splice_Site_p.W52_splice|EPHA3_ENST00000452448.2_Splice_Site_p.W52_splice	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	52						extracellular region|integral to plasma membrane	ATP binding			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)		ATTCTTCAGTGGGAAGAGATC	0.398000										TSP Lung(6;0.00050)			6	18					0	0	0.001168	0	0
MGA	23269	broad.mit.edu	37	15	42041491	42041491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr15:42041491C>T	ENST00000219905.7	+	17	5867	c.5686C>T	c.(5686-5688)Cag>Tag	p.Q1896*	MGA_ENST00000566586.1_Nonsense_Mutation_p.Q1687*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q1687*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q1857*|MGA_ENST00000570161.1_Nonsense_Mutation_p.Q1896*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1857						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTTTGTGTCTCAGGCTGGTAC	0.438000													5	51					0	0	0.000602	0	0
CTD-2587H24.4	0	broad.mit.edu	37	19	55670627	55670627	+	Nonstop_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:55670627C>G	ENST00000587871.1	-	4	412	c.413G>C	c.(412-414)tGa>tCa	p.*138S	DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000527223.2_Missense_Mutation_p.D544H|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.D524H|DNAAF3_ENST00000455045.1_Missense_Mutation_p.D423H|DNAAF3_ENST00000524407.2_Missense_Mutation_p.D477H																							GCCAGGATGTCAAGGGGCGGA	0.647000													5	31					0	0	0.001168	0	0
POTEF	728378	broad.mit.edu	37	2	130877990	130877990	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:130877990G>A	ENST00000357462.5	-	1	192	c.99C>T	c.(97-99)ccC>ccT	p.P33P	POTEF_ENST00000409914.2_Silent_p.P33P|POTEF_ENST00000361163.4_Silent_p.P33P|POTEF_ENST00000360967.5_Silent_p.P33P			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	33						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCCTGCAGCAGGGGAAGCAAC	0.577000													26	246					0	0	0.006320	0	0
SEC24C	9632	broad.mit.edu	37	10	75525632	75525632	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:75525632C>T	ENST00000339365.2	+	11	1603	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.L362L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Silent_p.L481L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	481					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGAGCTATCCCTGGGCTCTTA	0.517000													28	141					0	0	0.007291	0	0
GPR116	221395	broad.mit.edu	37	6	46826925	46826925	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:46826925G>C	ENST00000283296.7	-	17	3003	c.2715C>G	c.(2713-2715)ctC>ctG	p.L905L	GPR116_ENST00000265417.7_Silent_p.L905L|GPR116_ENST00000456426.2_Silent_p.L763L|GPR116_ENST00000545669.1_Silent_p.L334L|GPR116_ENST00000362015.4_Silent_p.L905L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	905					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGATGGCTTGGAGAGTTGGGA	0.453000													8	64					0	0	0.003080	0	0
CERS4	79603	broad.mit.edu	37	19	8326635	8326635	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:8326635C>G	ENST00000558331.1	+	11	1218	c.759C>G	c.(757-759)ttC>ttG	p.F253L	CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.F304L|CERS4_ENST00000559336.1_Intron|CERS4_ENST00000251363.5_Missense_Mutation_p.F304L			Q9HA82	CERS4_HUMAN	ceramide synthase 4	304	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCTACTACTTCTTCAACGGGC	0.552000													8	65					0	0	0.003080	0	0
CENPE	1062	broad.mit.edu	37	4	104084360	104084360	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:104084360C>T	ENST00000265148.3	-	18	1865	c.1776G>A	c.(1774-1776)aaG>aaA	p.K592K	CENPE_ENST00000380026.3_Silent_p.K567K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	592					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTGTAGCTTCTTAATCTGGT	0.328000													6	20					0	0	0.001168	0	0
CPNE5	57699	broad.mit.edu	37	6	36710137	36710137	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:36710137G>A	ENST00000244751.2	-	21	2314	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	CPNE5_ENST00000393189.2_Missense_Mutation_p.R272C|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	564										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGACGCGGGCGAATGCCCTGT	0.687000													6	102					0	0	0.001168	0	0
MUC4	4585	broad.mit.edu	37	3	195518254	195518254	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:195518254G>C	ENST00000463781.3	-	2	656	c.197C>G	c.(196-198)tCt>tGt	p.S66C	MUC4_ENST00000475231.1_Missense_Mutation_p.S66C|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	66					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCCTGATTAGAGGTCCTTGA	0.483000													6	153					0	0	0.001168	0	0
H2AFY2	55506	broad.mit.edu	37	10	71851671	71851671	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:71851671G>A	ENST00000373255.4	+	4	702	c.438G>A	c.(436-438)ggG>ggA	p.G146G		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	146	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						AGAAGGGGGGGAAGAAATCCA	0.587000													4	44					0	0	0.000602	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6436574	6436574	+	Missense_Mutation	SNP	C	C	T	rs71584817	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:6436574C>T	ENST00000449001.2	+	14	2223	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R139C|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R609C|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R609C	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	609					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGCCGTCTACGCCAAAGAGC	0.647000													6	156					0	0	0.001984	0	0
MARCO	8685	broad.mit.edu	37	2	119727727	119727727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:119727727G>T	ENST00000327097.4	+	3	372	c.237G>T	c.(235-237)atG>atT	p.M79I	MARCO_ENST00000541757.1_Start_Codon_SNP_p.M1I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	79					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCCTGGAGATGTATTTCCTCA	0.577000													13	78					6.31663e-08	8.39241e-08	0.003163	1	0
FERMT2	10979	broad.mit.edu	37	14	53325133	53325133	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr14:53325133C>T	ENST00000395631.2	-	15	2221	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	FERMT2_ENST00000343279.4_Missense_Mutation_p.E676K|FERMT2_ENST00000553373.1_Missense_Mutation_p.E676K|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000341590.3_Missense_Mutation_p.E669K			Q96AC1	FERM2_HUMAN	fermitin family member 2	669					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AACATCTCTTCATCTAAACTC	0.363000													9	60					0	0	0.010729	0	0
BAI3	577	broad.mit.edu	37	6	70070957	70070957	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:70070957G>T	ENST00000370598.1	+	29	4613	c.3792G>T	c.(3790-3792)gaG>gaT	p.E1264D	BAI3_ENST00000238918.8_Missense_Mutation_p.E470D|BAI3_ENST00000546190.1_Missense_Mutation_p.E228D	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1264					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTATGAATGAGCTTAGCAATC	0.423000													11	33					4.68919e-08	6.2745e-08	0.008291	1	0
MRPS22	56945	broad.mit.edu	37	3	139065737	139065737	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:139065737G>C	ENST00000495075.1	+	4	622	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	MRPS22_ENST00000478464.1_Missense_Mutation_p.E23Q|MRPS22_ENST00000465056.1_Missense_Mutation_p.E63Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E64Q			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	64						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGTAGCCCAGAGACCAAGAA	0.363000													4	44					0	0	0.009096	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683204	140683204	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:140683204C>T	ENST00000239451.4	-	1	408	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	77					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACCGAGTTTTCGGCGACGTAG	0.577000													15	84					0	0	0.002450	0	0
IFT122	55764	broad.mit.edu	37	3	129211017	129211017	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:129211017G>C	ENST00000296266.3	+	18	2371	c.2179G>C	c.(2179-2181)Gag>Cag	p.E727Q	IFT122_ENST00000507564.1_Missense_Mutation_p.E668Q|IFT122_ENST00000440957.2_Missense_Mutation_p.E467Q|IFT122_ENST00000348417.2_Missense_Mutation_p.E676Q|IFT122_ENST00000347300.2_Missense_Mutation_p.E617Q|IFT122_ENST00000349441.2_Missense_Mutation_p.E565Q|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000431818.2_Missense_Mutation_p.E526Q	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	676					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.E727Q(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCGATATTTAGAGCTCATCAG	0.438000													9	135					0	0	0.006214	0	0
OR4A5	81318	broad.mit.edu	37	11	51411644	51411644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:51411644C>A	ENST00000319760.6	-	1	804	c.752G>T	c.(751-753)tGt>tTt	p.C251F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TATGAAAATACAGGGTACAAA	0.388000													6	30					0.00116845	0.00130755	0.001168	1	0
GAN	8139	broad.mit.edu	37	16	81399073	81399073	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr16:81399073G>A	ENST00000248272.3	+	9	1654	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	498					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CTACCATGATGAGTTTAAAAG	0.428000													9	86					0	0	0.004482	0	0
SOD1	6647	broad.mit.edu	37	21	33036154	33036154	+	Missense_Mutation	SNP	G	G	T	rs121912433		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr21:33036154G>T	ENST00000270142.6	+	2	272	c.124G>T	c.(124-126)Ggc>Tgc	p.G42C	SOD1_ENST00000470944.1_3'UTR|SOD1_ENST00000389995.4_Missense_Mutation_p.G23C	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	42			G -> D (in ALS1).|G -> S (in ALS1).		activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)	4						ACTGACTGAAGGCCTGCATGG	0.433000													15	80					2.48551e-13	3.58065e-13	0.004990	1	0
MYOM3	127294	broad.mit.edu	37	1	24406539	24406539	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:24406539G>A	ENST00000330966.7	-	20	2718	c.2556C>T	c.(2554-2556)gtC>gtT	p.V852V	MYOM3_ENST00000374434.3_Silent_p.V851V|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.V851V|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	851	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCTGGGGTGACCGGCTTCC	0.592000													6	66					0	0	0.001168	0	0
EPHA3	2042	broad.mit.edu	37	3	89521758	89521758	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:89521758G>C	ENST00000336596.2	+	16	3060	c.2835G>C	c.(2833-2835)aaG>aaC	p.K945N	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	945	SAM.					extracellular region|integral to plasma membrane	ATP binding			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)		CAATAGCCAAGATTTCCACAG	0.408000										TSP Lung(6;0.00050)			6	66					0	0	0.001168	0	0
PRUNE2	158471	broad.mit.edu	37	9	79520851	79520851	+	Translation_Start_Site	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr9:79520851G>C	ENST00000428286.1	-	0	152				PRUNE2_ENST00000376718.3_Missense_Mutation_p.S10C|PRUNE2_ENST00000376713.3_Missense_Mutation_p.S10C			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TACCAGTTTAGATTTGGCGCG	0.532000													7	65					0	0	0.001984	0	0
MANEA	79694	broad.mit.edu	37	6	96034645	96034645	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:96034645G>T	ENST00000358812.4	+	2	464	c.330G>T	c.(328-330)tgG>tgT	p.W110C	MANEA_ENST00000369293.1_Missense_Mutation_p.W110C	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	110	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATTACAGTTGGTATGGAAATC	0.363000													7	39					8.12818e-05	9.641e-05	0.001984	1	0
MYOF	26509	broad.mit.edu	37	10	95111578	95111578	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:95111578G>C	ENST00000371501.4	-	33	3629	c.3507C>G	c.(3505-3507)ctC>ctG	p.L1169L	MYOF_ENST00000371502.4_Silent_p.L1169L|MYOF_ENST00000358334.5_Silent_p.L1156L|MYOF_ENST00000359263.4_Silent_p.L1169L			Q9NZM1	MYOF_HUMAN	myoferlin	1169	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCTCCGATGGAGGAAACAGA	0.433000													5	38					0	0	0.001168	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710633	140710633	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr5:140710633G>A	ENST00000517417.1	+	1	382	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D128N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATATTAATGACAACACTCC	0.403000													24	130					0	0	0.003954	0	0
WNK1	65125	broad.mit.edu	37	12	992609	992609	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:992609C>G	ENST00000537687.1	+	16	4961	c.4318C>G	c.(4318-4320)Caa>Gaa	p.Q1440E	WNK1_ENST00000315939.6_Missense_Mutation_p.Q1180E|WNK1_ENST00000535572.1_Missense_Mutation_p.Q933E|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1678E|WNK1_ENST00000340908.4_Missense_Mutation_p.Q773E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1180					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTTTGTGGATCAAGTGCGAGA	0.388000													3	39					0	0	0.004672	0	0
OR14C36	127066	broad.mit.edu	37	1	248512634	248512634	+	Silent	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:248512634T>G	ENST00000317861.1	+	1	558	c.558T>G	c.(556-558)tcT>tcG	p.S186S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGAAGCTCTCTTGCTCTGACA	0.493000													10	78					0	0	0.008291	0	0
ZNF248	57209	broad.mit.edu	37	10	38121209	38121209	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:38121209C>G	ENST00000395867.3	-	6	1624	c.1074G>C	c.(1072-1074)ggG>ggC	p.G358G	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.G358G	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGAAATTACTCCCATTTTCAT	0.403000													29	89					0	0	0.005443	0	0
LZTS1	11178	broad.mit.edu	37	8	20110421	20110421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr8:20110421C>A	ENST00000381569.1	-	3	1378	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	LZTS1_ENST00000522290.1_Nonsense_Mutation_p.E341*|LZTS1_ENST00000265801.6_Nonsense_Mutation_p.E341*			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	341					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCCGCTTCTCCTGCTGAAGC	0.647000													4	32					0.00024832	0.000286406	0.009096	1	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621545	99621545	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr7:99621545C>T	ENST00000324306.6	+	2	650	c.416C>T	c.(415-417)tCa>tTa	p.S139L	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S103L|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	139					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CTTGATTTATCAGGACAACAG	0.507000													7	68					0	0	0.003080	0	0
OR7G1	125962	broad.mit.edu	37	19	9226385	9226385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:9226385C>T	ENST00000293614.1	-	1	54	c.55G>A	c.(55-57)Gag>Aag	p.E19K	OR7G1_ENST00000541538.1_Missense_Mutation_p.E19K			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E19*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TCTGGGTCCTCTGTCACTTTC	0.433000													8	90					0	0	0.006214	0	0
PLCL1	5334	broad.mit.edu	37	2	198950567	198950567	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:198950567C>G	ENST00000428675.1	+	2	2724	c.2326C>G	c.(2326-2328)Cct>Gct	p.P776A	PLCL1_ENST00000437704.2_Missense_Mutation_p.P678A	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	776	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAGTGATAATCCTATTTTTGA	0.393000													6	61					0	0	0.001168	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609007	115609007	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:115609007C>G	ENST00000361384.2	-	2	2774	c.1857G>C	c.(1855-1857)gaG>gaC	p.E619D	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E619D	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	619					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AAAGCTGACTCTCATGTAAAG	0.403000								Other identified genes with known or suspected DNA repair function					9	86					0	0	0.008291	0	0
RP1L1	94137	broad.mit.edu	37	8	10468390	10468390	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr8:10468390C>A	ENST00000382483.3	-	4	3441	c.3218G>T	c.(3217-3219)cGg>cTg	p.R1073L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1073					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGAAGTGCCCGCAGGCTCAC	0.697000													5	21					0.000602214	0.000679978	0.000602	1	0
FGD5	152273	broad.mit.edu	37	3	14862303	14862303	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:14862303G>A	ENST00000285046.5	+	1	1835	c.1725G>A	c.(1723-1725)agG>agA	p.R575R	FGD5_ENST00000543601.1_Silent_p.R334R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	575					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ATGACCACAGGATAAAGAGGA	0.557000													4	36					0	0	0.009096	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587954	68587954	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:68587954G>C	ENST00000478136.1	+	4	797	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q	FAM19A1_ENST00000496687.1_Missense_Mutation_p.E103Q	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	103						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCTTGCCTAGAAGGAGAAGA	0.438000													7	48					0	0	0.003080	0	0
EFCAB6	64800	broad.mit.edu	37	22	44178131	44178131	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr22:44178131G>C	ENST00000262726.7	-	3	321	c.68C>G	c.(67-69)tCa>tGa	p.S23*	EFCAB6_ENST00000358439.4_5'UTR|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000356087.4_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGGGGTCTTGAATGTGTAAA	0.373000													4	57					0	0	0.009096	0	0
DAPK3	1613	broad.mit.edu	37	19	3964802	3964802	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:3964802C>T	ENST00000545797.2	-	3	493	c.250G>A	c.(250-252)Gag>Aag	p.E84K	DAPK3_ENST00000301264.3_Missense_Mutation_p.E84K			O43293	DAPK3_HUMAN	death-associated protein kinase 3	84	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTGTTCTCGAAGATGTCG	0.632000													14	86					0	0	0.001855	0	0
OR2J3	442186	broad.mit.edu	37	6	29079946	29079946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr6:29079946G>T	ENST00000377169.1	+	1	279	c.279G>T	c.(277-279)aaG>aaT	p.K93N		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K93N(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCCCGGAAAAGACCATCTCTT	0.478000													12	159					2.80697e-09	3.85191e-09	0.010729	1	0
OR5M3	219482	broad.mit.edu	37	11	56237626	56237626	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:56237626C>A	ENST00000312240.2	-	1	388	c.348G>T	c.(346-348)atG>atT	p.M116I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TATCAAAGGCCATCGCAGCAA	0.358000													5	71					0.000602214	0.000679978	0.000602	1	0
RFC5	5985	broad.mit.edu	37	12	118467620	118467620	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr12:118467620G>A	ENST00000392542.2	+	11	1386	c.853G>A	c.(853-855)Gca>Aca	p.A285T	RFC5_ENST00000229043.3_Missense_Mutation_p.A221T|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000454402.2_Missense_Mutation_p.A306T	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	306					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACCAAAATGGCAGACATTGA	0.358000													10	99					0	0	0.001855	0	0
PARP2	10038	broad.mit.edu	37	14	20815046	20815046	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr14:20815046G>C	ENST00000527915.1	+	4	342	c.337G>C	c.(337-339)Gat>Cat	p.D113H	PARP2_ENST00000250416.5_Missense_Mutation_p.D113H|RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000429687.3_Missense_Mutation_p.D100H			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	113					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGAAGGAAATGATGTCTATGA	0.368000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	40					0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92086102	92086102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:92086102C>A	ENST00000298047.6	+	1	841	c.824C>A	c.(823-825)tCg>tAg	p.S275*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.S125*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.S275*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.S275*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	275	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTCCTTTCTCGTTGGAAAAA	0.448000										TCGA Ovarian(4;0.039)			13	102					0.00010058	0.000118552	0.001368	1	0
MYPN	84665	broad.mit.edu	37	10	69926137	69926137	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr10:69926137C>A	ENST00000358913.5	+	10	2175	c.1687C>A	c.(1687-1689)Ccc>Acc	p.P563T	MYPN_ENST00000540630.1_Missense_Mutation_p.P563T|MYPN_ENST00000354393.2_Missense_Mutation_p.P288T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	563						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCCTCCCCACCCCACTCAGA	0.572000													11	42					5.16669e-11	7.22184e-11	0.010729	1	0
OR10G4	390264	broad.mit.edu	37	11	123886957	123886957	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:123886957C>T	ENST00000320891.4	+	1	676	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	226			R -> Q (in dbSNP:rs11219408).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCATCCTGCGGATCCGCAC	0.517000													5	97					0	0	0.001984	0	0
ATP11C	286410	broad.mit.edu	37	X	138827966	138827966	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chrX:138827966G>T	ENST00000370557.1	-	25	3897	c.2870C>A	c.(2869-2871)aCa>aAa	p.T957K	ATP11C_ENST00000359686.2_Missense_Mutation_p.T963K|ATP11C_ENST00000327569.3_Missense_Mutation_p.T963K|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.T963K|ATP11C_ENST00000370543.1_Missense_Mutation_p.T963K			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	963					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGCCAGAAATGTCCAATATAA	0.393000													8	62					1.06961e-07	1.41114e-07	0.003080	1	0
GPR148	344561	broad.mit.edu	37	2	131487352	131487352	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:131487352C>A	ENST00000309926.4	+	1	710	c.628C>A	c.(628-630)Cag>Aag	p.Q210K		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	210						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATGGGCACCCAGCCGGGATG	0.542000													14	90					3.27435e-08	4.41275e-08	0.002450	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137205	40137205	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:40137205G>T	ENST00000278198.2	-	2	2601	c.638C>A	c.(637-639)cCt>cAt	p.P213H	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	213					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTGAGGTTAGGGATTTCCCG	0.458000													7	38					2.0095e-06	2.56997e-06	0.001984	1	0
NEK3	4752	broad.mit.edu	37	13	52707317	52707317	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr13:52707317C>T	ENST00000452082.2	-	14	2724	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	NEK3_ENST00000378101.2_Silent_p.L494L|NEK3_ENST00000339406.3_Silent_p.L494L|NEK3_ENST00000400357.2_Silent_p.L477L			P51956	NEK3_HUMAN	NIMA-related kinase 3	494					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CTCGCTTCTTCAGCTCTGACA	0.498000													5	17					0	0	0.000602	0	0
MUC4	4585	broad.mit.edu	37	3	195516290	195516290	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:195516290C>G	ENST00000463781.3	-	2	2620	c.2161G>C	c.(2161-2163)Gat>Cat	p.D721H	MUC4_ENST00000475231.1_Missense_Mutation_p.D721H|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	726			A -> T (in dbSNP:rs3749331).		cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGGTGGCATCATGGCTGCTG	0.612000													7	142					0	0	0.003080	0	0
CHD6	84181	broad.mit.edu	37	20	40054752	40054752	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:40054752C>A	ENST00000373233.3	-	28	4287	c.4110G>T	c.(4108-4110)aaG>aaT	p.K1370N		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1370					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTCATCCTTCTTTTCGCTAA	0.423000													7	179					5.18039e-06	6.47119e-06	0.003080	1	0
ARHGAP39	80728	broad.mit.edu	37	8	145770662	145770662	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr8:145770662C>A	ENST00000276826.5	-	5	2693	c.2492G>T	c.(2491-2493)cGg>cTg	p.R831L	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R831L|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R831L|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	831	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GTCCATGTGCCGGTAGATGTA	0.627000													12	46					3.07112e-06	3.90115e-06	0.010729	1	0
SSU72	29101	broad.mit.edu	37	1	1500188	1500188	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:1500188C>T	ENST00000359060.4	-	2	215	c.189G>A	c.(187-189)caG>caA	p.Q63Q	SSU72_ENST00000291386.3_Silent_p.Q63Q			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	63					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CATTGTACATCTGGTCATATG	0.493000													10	105					0	0	0.006214	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													4	70					0.00909568	0.00982752	0.009096	1	0
IGSF9B	22997	broad.mit.edu	37	11	133791250	133791250	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:133791250G>A	ENST00000321016.8	-	18	2600	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	IGSF9B_ENST00000533871.2_Silent_p.L790L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	790						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACGGCGCTCGGAGCGTGCGGA	0.657000													4	34					0	0	0.009096	0	0
CARM1	10498	broad.mit.edu	37	19	11031219	11031219	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:11031219C>T	ENST00000327064.4	+	11	1494	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	CARM1_ENST00000344150.4_Missense_Mutation_p.S435L	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	435					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GACACGCTCTCAGGGACATGT	0.637000													4	44					0	0	0.009096	0	0
WDFY3	23001	broad.mit.edu	37	4	85731329	85731329	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr4:85731329G>A	ENST00000322366.6	-	14	2463	c.2056C>T	c.(2056-2058)Cac>Tac	p.H686Y	WDFY3_ENST00000295888.4_Missense_Mutation_p.H686Y|WDFY3-AS1_ENST00000510449.1_RNA			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	686						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACACAGTGTGAAGAAGTTCA	0.448000													9	63					0	0	0.006214	0	0
EIF6	3692	broad.mit.edu	37	20	33867900	33867900	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:33867900C>G	ENST00000374450.3	-	5	655	c.391G>C	c.(391-393)Gat>Cat	p.D131H	EIF6_ENST00000374443.3_Missense_Mutation_p.D112H|EIF6_ENST00000374436.3_Missense_Mutation_p.D131H|EIF6_ENST00000462894.1_5'UTR	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	131					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTGAGCACATCTGCCAGAATT	0.507000													6	172					0	0	0.003080	0	0
NES	10763	broad.mit.edu	37	1	156640010	156640010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:156640010G>A	ENST00000368223.3	-	4	4102	c.3970C>T	c.(3970-3972)Caa>Taa	p.Q1324*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1324	Tail.			DPTGEQRPPPQG -> TPLESRGHPLK (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCTCCCCTTGAGGGGGTGGC	0.662000													8	136					0	0	0.003080	0	0
CAPN13	92291	broad.mit.edu	37	2	30966341	30966341	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:30966341C>A	ENST00000295055.8	-	13	1529	c.1353G>T	c.(1351-1353)ctG>ctT	p.L451L	CAPN13_ENST00000534090.2_Silent_p.L451L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	451					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCCCAGGGCTCAGATGGTAAG	0.463000													27	168					7.92952e-12	1.12936e-11	0.003954	1	0
THUMPD2	80745	broad.mit.edu	37	2	39963894	39963894	+	Missense_Mutation	SNP	G	G	A	rs145653260	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr2:39963894G>A	ENST00000505747.1	-	10	1520	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L	THUMPD2_ENST00000260619.6_Missense_Mutation_p.S468L	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	498							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AGAAGAGTGCGACTTCTTATA	0.448000													4	36					0	0	0.009096	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137206	40137206	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr11:40137206G>T	ENST00000278198.2	-	2	2600	c.637C>A	c.(637-639)Cct>Act	p.P213T	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	213					regulation of axonogenesis	integral to membrane	protein binding	p.P213T(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGAGGTTAGGGATTTCCCGA	0.458000													8	39					1.06961e-07	1.41114e-07	0.003080	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200776585	200776585	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:200776585G>T	ENST00000358823.2	+	3	751	c.481G>T	c.(481-483)Gct>Tct	p.A161S	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.A161S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A161S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	161						cytoplasm|microtubule	protein binding										AATTGCGTGTGCTCAGCAGTA	0.383000													7	43					8.12818e-05	9.641e-05	0.001984	1	0
IRF2BP2	359948	broad.mit.edu	37	1	234743316	234743317	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:234743316_234743317insCT	ENST00000366609.3	-	2	1360_1361	c.1330_1331insAG	c.(1330-1332)caafs	p.Q444fs	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.Q428fs|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AACCTGGTTGGCATCTTTTGAG	0.604													11	162	---	---	---	---					
OR2M2	391194	broad.mit.edu	37	1	248343457	248343457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:248343457delC	ENST00000359682.2	+	1	170	c.170delC	c.(169-171)acfs	p.T57fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCTCCACACCCCCATGTAC	0.537													31	392	---	---	---	---					
EPHB1	2047	broad.mit.edu	37	3	134851761	134851761	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:134851761delC	ENST00000398015.3	+	5	1537	c.1167delC	c.(1165-1167)tgfs	p.C389fs	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	389	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGACGGAGTGCCGCGTCTCCA	0.617													8	43	---	---	---	---					
DCAF4L2	138009	broad.mit.edu	37	8	88885535	88885536	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:88885535_88885536insA	ENST00000319675.3	-	1	760_761	c.664_665insT	c.(664-666)gacfs	p.D222fs		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	222										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACTGCTAGTCCCAAATGACTGC	0.530													8	131	---	---	---	---					
ZNF585A	199704	broad.mit.edu	37	19	37643721	37643721	+	Frame_Shift_Del	DEL	C	C	-	rs146669317		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:37643721delC	ENST00000356958.4	-	5	1338	c.1080delG	c.(1078-1080)ggfs	p.G360fs	ZNF585A_ENST00000355533.2_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAAGGCCTTCCCACACTCAG	0.408													26	73	---	---	---	---					
FLRT3	23767	broad.mit.edu	37	20	14306373	14306375	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:14306373_14306375delAAG	ENST00000378053.3	-	2	2034_2036	c.1778_1780delCTT	c.(1777-1782)ttt>t	p.SF593del	FLRT3_ENST00000341420.4_In_Frame_Del_p.SF593del|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	593					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.S593Y(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AACATCTGAAAAGAAGTTTCCCT	0.399													16	137	---	---	---	---					
IRF2BP2	359948	broad.mit.edu	37	1	234743316	234743317	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:234743316_234743317insCT	ENST00000366609.3	-	2	1360_1361	c.1330_1331insAG	c.(1330-1332)caafs	p.Q444fs	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.Q428fs|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AACCTGGTTGGCATCTTTTGAG	0.604													11	162	---	---	---	---					
OR2M2	391194	broad.mit.edu	37	1	248343457	248343457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr1:248343457delC	ENST00000359682.2	+	1	170	c.170delC	c.(169-171)acfs	p.T57fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCTCCACACCCCCATGTAC	0.537													31	392	---	---	---	---					
EPHB1	2047	broad.mit.edu	37	3	134851761	134851761	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:134851761delC	ENST00000398015.3	+	5	1537	c.1167delC	c.(1165-1167)tgfs	p.C389fs	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	389	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGACGGAGTGCCGCGTCTCCA	0.617													8	43	---	---	---	---					
ERICH6-AS1	101928085	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													7	3	---	---	---	---					
DCAF4L2	138009	broad.mit.edu	37	8	88885535	88885536	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr8:88885535_88885536insA	ENST00000319675.3	-	1	760_761	c.664_665insT	c.(664-666)gacfs	p.D222fs		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	222										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACTGCTAGTCCCAAATGACTGC	0.530													8	131	---	---	---	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	AA	-	rs62565543		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr9:40715923_40715924delAA	ENST00000604146.1	+	0	262_263					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													4	7	---	---	---	---					
ZNF585A	199704	broad.mit.edu	37	19	37643721	37643721	+	Frame_Shift_Del	DEL	C	C	-	rs146669317		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr19:37643721delC	ENST00000356958.4	-	5	1338	c.1080delG	c.(1078-1080)ggfs	p.G360fs	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.G305fs			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAAGGCCTTCCCACACTCAG	0.408													26	73	---	---	---	---					
FLRT3	23767	broad.mit.edu	37	20	14306373	14306375	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:14306373_14306375delAAG	ENST00000378053.3	-	2	2034_2036	c.1778_1780delCTT	c.(1777-1782)ttt>t	p.SF593del	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_In_Frame_Del_p.SF593del	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	593					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.S593Y(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AACATCTGAAAAGAAGTTTCCCT	0.399													16	137	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	by1000genomes	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ff2f50-8ae1-4332-a96e-e5dc24213556	bba5c090-2ff8-4fce-afd5-4674c768fe6b	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358													7	73	---	---	---	---					
