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
DYNAP	284254	broad.mit.edu	37	18	52265336	52265336	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:52265336C>T	ENST00000321600.1	+	3	639	c.593C>T	c.(592-594)tCc>tTc	p.S198F	DYNAP_ENST00000585973.1_Missense_Mutation_p.S146F	NM_173629.1	NP_775900.1			dynactin associated protein																		GCCACCACTTCCACAGAACCT	0.453000													13	21					0	0	0.003163	0	0
SP6	80320	broad.mit.edu	37	17	45925172	45925172	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:45925172C>T	ENST00000536300.1	-	2	955	c.624G>A	c.(622-624)ggG>ggA	p.G208G	SP6_ENST00000342234.2_Silent_p.G208G	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GACGCGCCGCCCCGTCCAGGC	0.716000													11	13					0	0	0.002450	0	0
GRIP2	80852	broad.mit.edu	37	3	14564450	14564450	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:14564450C>T	ENST00000273083.3	-	0	632							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						ccaccttcttcgcaggggagt	0.622000													6	24					0	0	0.001168	0	0
PET112	5188	broad.mit.edu	37	4	152626406	152626406	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:152626406C>T	ENST00000263985.6	-	7	933	c.893G>A	c.(892-894)aGg>aAg	p.R298K	PET112_ENST00000515812.1_Missense_Mutation_p.R257K|PET112_ENST00000512306.1_Missense_Mutation_p.R298K	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	298						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATTGATTTGCCTCTGAATTTC	0.383000													9	28					0	0	0.008291	0	0
SV2B	9899	broad.mit.edu	37	15	91795075	91795075	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:91795075G>A	ENST00000394232.1	+	3	948	c.478G>A	c.(478-480)Gcg>Acg	p.A160T	SV2B_ENST00000545111.2_Missense_Mutation_p.A9T|SV2B_ENST00000330276.4_Missense_Mutation_p.A160T|SV2B_ENST00000557291.1_3'UTR	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	160					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGGAATGATGGCGGGCGCCTT	0.502000													47	201					0	0	0.003610	0	0
NNT	23530	broad.mit.edu	37	5	43609398	43609398	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:43609398G>A	ENST00000264663.5	+	2	322	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Missense_Mutation_p.R34Q	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	34					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GATTTTTTACGAACATTTTAT	0.418000													21	21					0	0	0.002780	0	0
OR5T3	390154	broad.mit.edu	37	11	56020000	56020000	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:56020000C>T	ENST00000303059.3	+	1	325	c.325C>T	c.(325-327)Cca>Tca	p.P109S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AGTTGTCACTCCAAAAATGTT	0.368000													36	16					0	0	0.004289	0	0
GPR50	9248	broad.mit.edu	37	X	150349224	150349224	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:150349224C>T	ENST00000218316.3	+	2	1238	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	390	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCCCATTCCAGATCCTCC	0.582000													31	17					0	0	0.002096	0	0
MASP1	5648	broad.mit.edu	37	3	186938850	186938850	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:186938850C>T	ENST00000337774.5	-	15	2271	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	628	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGATCATGTCCCTGGTCACT	0.547000													11	15					0	0	0.001368	0	0
DSG2	1829	broad.mit.edu	37	18	29126020	29126020	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:29126020C>T	ENST00000261590.8	+	15	2880	c.2671C>T	c.(2671-2673)Cca>Tca	p.P891S	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	891					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTTCCCAGTTCCAAAATCTTT	0.433000													16	30					0	0	0.004007	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539590	48539590	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:48539590G>A	ENST00000396577.3	+	13	1832	c.1617G>A	c.(1615-1617)ggG>ggA	p.G539G	SLC12A1_ENST00000380993.3_Silent_p.G539G|SLC12A1_ENST00000558405.1_Silent_p.G539G	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	539					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGGGATATGGGAAAAACAATG	0.348000													12	28					0	0	0.001368	0	0
OR13C8	138802	broad.mit.edu	37	9	107331930	107331930	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:107331930C>T	ENST00000335040.1	+	1	482	c.482C>T	c.(481-483)gCt>gTt	p.A161V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GTGCAGACAGCTTTTGCAATG	0.463000													34	19					0	0	0.003755	0	0
BAI3	577	broad.mit.edu	37	6	69349060	69349060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:69349060C>T	ENST00000370598.1	+	3	1314	c.493C>T	c.(493-495)Cag>Tag	p.Q165*		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	165					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)				CAGCCCAAGCCAGTTTGGTTG	0.383000													30	50					0	0	0.003271	0	0
ABCA6	23460	broad.mit.edu	37	17	67075408	67075408	+	Splice_Site	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:67075408T>G	ENST00000284425.2	-	38	4871		c.e38-2		ABCA6_ENST00000446604.2_Splice_Site	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6						transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TATGCTTCACTGGAGGAAAAA	0.299000													14	44					0	0	0.004990	0	0
EYS	346007	broad.mit.edu	37	6	66205080	66205080	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:66205080G>A	ENST00000503581.1	-	4	761	c.224C>T	c.(223-225)cCc>cTc	p.P75L	EYS_ENST00000370621.3_Missense_Mutation_p.P75L|EYS_ENST00000342421.5_Missense_Mutation_p.P75L|EYS_ENST00000370616.2_Missense_Mutation_p.P75L|EYS_ENST00000393380.2_Missense_Mutation_p.P75L|EYS_ENST00000370618.3_Missense_Mutation_p.P75L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	75					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCAAATCTGGGGAACAGCTTG	0.353000													28	60					0	0	0.001786	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475513	157475513	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:157475513G>A	ENST00000389413.3	-	12	1921	c.1818C>T	c.(1816-1818)ctC>ctT	p.L606L	PTPRN2_ENST00000409483.1_Silent_p.L597L|PTPRN2_ENST00000404321.2_Silent_p.L658L|PTPRN2_ENST00000389416.4_Silent_p.L618L|PTPRN2_ENST00000389418.4_Silent_p.L635L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	635						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCAGTAGATGAGGCCAGAGG	0.632000													22	61					0	0	0.001882	0	0
HSPG2	3339	broad.mit.edu	37	1	22150814	22150814	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:22150814C>T	ENST00000374695.3	-	94	12879	c.12800G>A	c.(12799-12801)gGg>gAg	p.G4267E	HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4267	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACAAGGTGCCCGTCTTGAAG	0.657000													38	51					0	0	0.006999	0	0
OR5H2	79310	broad.mit.edu	37	3	98002658	98002658	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:98002658G>A	ENST00000355273.2	+	1	927	c.927G>A	c.(925-927)atG>atA	p.M309I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCACAAAAATGGTAAAAAGAA	0.274000													10	3					0	0	0.006214	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710954	14710954	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:14710954A>T	ENST00000547437.1	+	12	931	c.854A>T	c.(853-855)aAt>aTt	p.N285I	CLEC17A_ENST00000417570.1_Missense_Mutation_p.N285I|CLEC17A_ENST00000397439.2_Missense_Mutation_p.N268I	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	285	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										TGCCAGGAGAATTACTCTCAC	0.512000													16	9					0	0	0.003163	0	0
FABP2	2169	broad.mit.edu	37	4	120241869	120241869	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:120241869C>T	ENST00000274024.3	-	2	483	c.196G>A	c.(196-198)Ggt>Agt	p.G66S		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	66							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						AAGGTGACACCAAGTTCAAAA	0.323000													20	26					0	0	0.002299	0	0
STAB2	55576	broad.mit.edu	37	12	104048356	104048356	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:104048356C>T	ENST00000388887.2	+	13	1635	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	477	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTTAAACTCCATGGAGGCA	0.403000													17	15					0	0	0.004990	0	0
GRID1	2894	broad.mit.edu	37	10	87362365	87362365	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:87362365C>T	ENST00000327946.7	-	16	2780	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	GRID1_ENST00000536331.1_Missense_Mutation_p.E470K|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	899						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCCGAGAGCTCAATCGACGCT	0.597000										Multiple Myeloma(13;0.14)			6	5					0	0	0.001168	0	0
NBPF1	55672	broad.mit.edu	37	1	16893772	16893772	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:16893772G>A	ENST00000430580.2	-	25	3628	c.2741C>T	c.(2740-2742)cCt>cTt	p.P914L	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	914	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATAACCTGAAGGAGTTGAATA	0.483000													19	1202					0	0	0.001368	0	0
LIPI	149998	broad.mit.edu	37	21	15561519	15561519	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:15561519G>A	ENST00000344577.2	-	2	356	c.331C>T	c.(331-333)Cca>Tca	p.P111S	LIPI_ENST00000536861.1_Missense_Mutation_p.P90S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	90					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AGCCATAATGGGATGGAGCCT	0.373000													10	15					0	0	0.000978	0	0
SPSB1	80176	broad.mit.edu	37	1	9416450	9416450	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:9416450C>T	ENST00000328089.6	+	2	841	c.500C>T	c.(499-501)cCa>cTa	p.P167L	SPSB1_ENST00000377399.2_Missense_Mutation_p.P167L|SPSB1_ENST00000357898.3_Missense_Mutation_p.P167L	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	167	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TTTCTGGAACCAGATGAGACA	0.557000													15	73					0	0	0.004007	0	0
KCNF1	3754	broad.mit.edu	37	2	11053650	11053650	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:11053650C>T	ENST00000295082.1	+	1	1588	c.1098C>T	c.(1096-1098)atC>atT	p.I366I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	366						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGGCCATCATCACCATGACCA	0.592000													18	18					0	0	0.001523	0	0
AHNAK2	113146	broad.mit.edu	37	14	105404794	105404794	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:105404794G>A	ENST00000333244.5	-	7	17113	c.16994C>T	c.(16993-16995)tCc>tTc	p.S5665F	AHNAK2_ENST00000557457.1_Missense_Mutation_p.S663F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5665						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCATTTTTGGAATCAACACC	0.468000													12	5					0	0	0.001368	0	0
WDR52	55779	broad.mit.edu	37	3	113114680	113114680	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:113114680C>T	ENST00000393845.2	-	15	1873	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	WDR52_ENST00000295868.2_Missense_Mutation_p.E603K|WDR52_ENST00000475568.1_5'UTR	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	603										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTTCCACTTCAAAGAAGAAA	0.343000													13	17					0	0	0.002450	0	0
DDX60	55601	broad.mit.edu	37	4	169196631	169196631	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:169196631C>T	ENST00000393743.3	-	16	2460	c.2169G>A	c.(2167-2169)gtG>gtA	p.V723V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	723							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCCTTTTCTTCACTTTTACAT	0.323000													17	11					0	0	0.001523	0	0
ZNF311	282890	broad.mit.edu	37	6	28966604	28966604	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28966604G>A	ENST00000377179.3	-	6	834	c.322C>T	c.(322-324)Cct>Tct	p.P108S	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GGAGGTTTAGGAAATGGAAAT	0.438000													22	52					0	0	0.002299	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891899	173891899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:173891899C>T	ENST00000264111.6	+	25	2654	c.2467C>T	c.(2467-2469)Cag>Tag	p.Q823*	RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.Q824*|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.Q671*|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.Q653*|RAPGEF4_ENST00000397081.3_Nonsense_Mutation_p.Q824*|RAPGEF4_ENST00000535187.1_Nonsense_Mutation_p.Q604*|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.Q680*|RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.Q671*			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	824	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAATGAAATTCAGTTTTGGGT	0.358000													15	71					0	0	0.002450	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392573	22392573	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:22392573C>T	ENST00000390440.2	+	0	171																											CAGGAATGTTCGTGCAGGAAA	0.443000													22	8					0	0	0.002299	0	0
CHD7	55636	broad.mit.edu	37	8	61655534	61655534	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:61655534C>T	ENST00000423902.2	+	2	2022	c.1543C>T	c.(1543-1545)Cct>Tct	p.P515S	CHD7_ENST00000525508.1_Missense_Mutation_p.P515S|CHD7_ENST00000524602.1_Missense_Mutation_p.P515S	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	515	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCCAACCTGTCCTCCACTGCA	0.582000													4	10					0	0	0.000248	0	0
MORC1	27136	broad.mit.edu	37	3	108818259	108818259	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:108818259C>T	ENST00000232603.5	-	6	451	c.369G>A	c.(367-369)acG>acA	p.T123T	MORC1_ENST00000483760.1_Silent_p.T123T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	123					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACAGGTCATCGTTTCTTCCT	0.343000													9	37					0	0	0.001368	0	0
KLHDC1	122773	broad.mit.edu	37	14	50199497	50199497	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:50199497C>T	ENST00000359332.2	+	9	876	c.786C>T	c.(784-786)ttC>ttT	p.F262F	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	262						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					ATAAACTTTTCCTATGTGGTG	0.328000													22	33					0	0	0.004656	0	0
DYM	54808	broad.mit.edu	37	18	46956685	46956685	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:46956685G>A	ENST00000269445.6	-	2	537	c.80C>T	c.(79-81)tCt>tTt	p.S27F	DYM_ENST00000442713.2_Missense_Mutation_p.S27F|DYM_ENST00000584977.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	27						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GTCATTCTCAGAGATAGATTC	0.418000													19	57					0	0	0.007413	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349724	134349724	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:134349724G>A	ENST00000275230.5	-	2	1394	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	413						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTCTGCTATGGGAAGAAATCC	0.453000													31	16					0	0	0.002445	0	0
MKL1	57591	broad.mit.edu	37	22	40827451	40827451	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:40827451G>A	ENST00000396617.3	-	6	687	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	MKL1_ENST00000355630.3_Missense_Mutation_p.R33W|MKL1_ENST00000407029.1_Missense_Mutation_p.R33W|MKL1_ENST00000402630.1_Missense_Mutation_p.R33W|MKL1_ENST00000402042.1_Missense_Mutation_p.R33W			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	33	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCTCCGGCCGGGAACGAATC	0.473000			T	RBM15	acute megakaryocytic leukemia								128	134					0	0	0.003610	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102036929	102036929	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:102036929C>T	ENST00000496391.1	+	5	1381	c.71C>T	c.(70-72)cCc>cTc	p.P24L	PRKRIP1_ENST00000397912.3_Missense_Mutation_p.P24L|PRKRIP1_ENST00000354783.4_5'UTR|PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000482465.1_Intron			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	24	Interaction with EIF2AK2 (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						CTCGTCATCCCCAAGAATGCG	0.672000													15	18					0	0	0.004990	0	0
WAPAL	23063	broad.mit.edu	37	10	88260189	88260189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:88260189G>A	ENST00000298767.5	-	3	1283	c.811C>T	c.(811-813)Cga>Tga	p.R271*		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	271	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTTTCCAATCGATTTTTAAAA	0.363000													16	32					0	0	0.003163	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607460	31607460	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:31607460C>T	ENST00000170150.3	+	11	1179	c.984C>T	c.(982-984)ctC>ctT	p.L328L		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	328						extracellular region	lipid binding										TGGCCATGCTCCACACAAACA	0.662000													13	25					0	0	0.002450	0	0
TEX13B	56156	broad.mit.edu	37	X	107224934	107224934	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:107224934C>T	ENST00000302917.1	-	2	516	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	142										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						ATGTCCCGCTCTCTCTGCACC	0.587000													25	17					0	0	0.003954	0	0
BIRC6	57448	broad.mit.edu	37	2	32710715	32710715	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:32710715G>T	ENST00000421745.2	+	40	7836	c.7702G>T	c.(7702-7704)Gat>Tat	p.D2568Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2568					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGTAGCCCTGGATGCTCGCCT	0.383000													5	28					0.00198382	0.00302214	0.001984	1	0
GCDH	2639	broad.mit.edu	37	19	13007226	13007226	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:13007226C>T	ENST00000222214.5	+	8	1054	c.843C>T	c.(841-843)tcC>tcT	p.S281S	GCDH_ENST00000591470.1_Silent_p.S281S|GCDH_ENST00000422947.2_Silent_p.S237S|GCDH_ENST00000457854.1_Silent_p.S281S			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	281					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CTGGTGCATCCAGCCTGGGGG	0.632000													9	2					0	0	0.008291	0	0
RERG	85004	broad.mit.edu	37	12	15262435	15262435	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:15262435C>T	ENST00000256953.2	-	5	545	c.209G>A	c.(208-210)aGg>aAg	p.R70K	RERG_ENST00000546331.1_Missense_Mutation_p.R51K|RERG_ENST00000538313.1_Missense_Mutation_p.R70K|RERG_ENST00000536465.1_Missense_Mutation_p.R70K	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	70					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GTGCCCCTCCCTCTGAATGGT	0.458000													123	81					0	0	0.003610	0	0
DHX35	60625	broad.mit.edu	37	20	37653908	37653908	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:37653908C>T	ENST00000252011.3	+	18	1740	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	DHX35_ENST00000373325.2_Silent_p.F569F|DHX35_ENST00000373323.4_Silent_p.F538F	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	569						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AGGAACATTTCCTGAATTACA	0.418000													106	175					0	0	0.003610	0	0
TFEC	22797	broad.mit.edu	37	7	115624483	115624483	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:115624483G>A	ENST00000265440.7	-	2	193	c.13C>T	c.(13-15)Cat>Tat	p.H5Y	TFEC_ENST00000320239.7_Missense_Mutation_p.H5Y|TFEC_ENST00000393485.1_Missense_Mutation_p.H5Y|TFEC_ENST00000484212.1_Missense_Mutation_p.H95Y	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	5	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ATGATCTGATGATCAAGGGTC	0.478000													48	35					0	0	0.003610	0	0
CYP2C18	1562	broad.mit.edu	37	10	96493119	96493119	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96493119G>A	ENST00000285979.6	+	8	1414	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	CYP2C18_ENST00000339022.5_Silent_p.E346E|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CCAACCCAGAGATGTTTGACC	0.403000													11	50					0	0	0.000978	0	0
GSTA1	2938	broad.mit.edu	37	6	52656671	52656671	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:52656671C>T	ENST00000334575.5	-	7	809	c.654G>A	c.(652-654)aaG>aaA	p.K218K	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	218					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	ACCTGAAAATCTTCCTTGCTT	0.413000													27	93					0	0	0.005443	0	0
SUSD2	56241	broad.mit.edu	37	22	24581204	24581204	+	Missense_Mutation	SNP	G	G	A	rs139873837		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:24581204G>A	ENST00000358321.3	+	6	1186	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	309	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTTCCTGGAGGAGCTGCCGGA	0.672000													14	16					0	0	0.003163	0	0
SPIN1	10927	broad.mit.edu	37	9	91090126	91090126	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:91090126C>T	ENST00000375859.3	+	6	1001	c.723C>T	c.(721-723)tcC>tcT	p.S241S	SPIN1_ENST00000541629.1_Silent_p.S241S|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	241					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CCAAGCCCTCCGTCTATTTCA	0.413000													22	17					0	0	0.003330	0	0
CR1	1378	broad.mit.edu	37	1	207739232	207739232	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:207739232G>A	ENST00000367049.4	+	24	3916	c.3916G>A	c.(3916-3918)Gaa>Aaa	p.E1306K	CR1_ENST00000367053.1_Missense_Mutation_p.E856K|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.E856K|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.E856K	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	856	Sushi 20.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGCTGGAATGGAAAGCCTTTG	0.418000													23	92					0	0	0.005443	0	0
LPIN3	64900	broad.mit.edu	37	20	39984674	39984674	+	Splice_Site	SNP	C	C	T	rs148198959	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:39984674C>T	ENST00000373257.3	+	14	1894	c.1803_splice	c.e14+1	p.I601_splice		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	601	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCGATCAGATCGTAAGTGTGG	0.582000													9	60					0	0	0.006214	0	0
MTTP	4547	broad.mit.edu	37	4	100534212	100534212	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:100534212G>A	ENST00000457717.1	+	16	2388	c.2132G>A	c.(2131-2133)aGt>aAt	p.S711N	MTTP_ENST00000265517.5_Missense_Mutation_p.S711N|MTTP_ENST00000511045.1_Missense_Mutation_p.S738N|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	711					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AACGGATACAGTGATTTGATG	0.463000													23	38					0	0	0.002780	0	0
FAM41C	284593	broad.mit.edu	37	1	809712	809712	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:809712G>A	ENST00000446136.1	-	0	981					NR_027055.1																						GGAGTATGCTGAGGAGGAGGT	0.493000													15	64					0	0	0.004007	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366085	47366085	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:47366085C>T	ENST00000505841.1	-	0	24					NR_002788.2																						GCCATGAGTTCCTGAAGCCAG	0.537000													5	2					0	0	0.000602	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579891	44579891	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:44579891G>A	ENST00000289547.4	-	2	160	c.105C>T	c.(103-105)ttC>ttT	p.F35F	NPC1L1_ENST00000546276.1_Silent_p.F35F|NPC1L1_ENST00000381160.3_Silent_p.F35F|NPC1L1_ENST00000423141.1_Silent_p.F35F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	35					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATTCGTCATAGAAGGCGCAGT	0.597000													26	21					0	0	0.008361	0	0
NTRK3	4916	broad.mit.edu	37	15	88524538	88524538	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:88524538C>T	ENST00000317501.3	-	14	1800	c.1639G>A	c.(1639-1641)Gat>Aat	p.D547N	NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.D547N|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000355254.2_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			actagatgatctctattgtcc	0.433000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			11	18					0	0	0.008291	0	0
STEAP3	55240	broad.mit.edu	37	2	120003076	120003076	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:120003076C>T	ENST00000354888.5	+	3	508	c.4C>T	c.(4-6)Cca>Tca	p.P2S	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.P2S|STEAP3_ENST00000450943.2_Missense_Mutation_p.P2S|STEAP3_ENST00000409811.1_Missense_Mutation_p.P2S|STEAP3_ENST00000393110.2_Missense_Mutation_p.P12S|STEAP3_ENST00000425223.2_Missense_Mutation_p.P2S|STEAP3_ENST00000393108.2_Missense_Mutation_p.P2S|STEAP3_ENST00000393107.2_Missense_Mutation_p.P2S	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	2					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CACCAAAATGCCAGAAGAGAT	0.577000													10	29					0	0	0.000978	0	0
PRPF4B	8899	broad.mit.edu	37	6	4057355	4057355	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:4057355C>T	ENST00000337659.6	+	13	2767	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	PRPF4B_ENST00000538861.1_Silent_p.F875F	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	889	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAATTTTATTCCCTGGCAAAA	0.353000													24	131					0	0	0.003330	0	0
DNAJC21	134218	broad.mit.edu	37	5	34944982	34944982	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:34944982C>T	ENST00000382021.2	+	8	1221	c.994C>T	c.(994-996)Cac>Tac	p.H332Y	DNAJC21_ENST00000342382.4_Missense_Mutation_p.H332Y|DNAJC21_ENST00000303525.7_Missense_Mutation_p.H332Y	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	332	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CATGAAGAATCACGAGAAGTC	0.408000													67	104					0	0	0.003610	0	0
SAMD7	344658	broad.mit.edu	37	3	169644396	169644396	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:169644396C>T	ENST00000428432.2	+	6	735	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	SAMD7_ENST00000335556.3_Missense_Mutation_p.P116S	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	116										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAAAATTAATCCCAAGGGACT	0.468000													13	26					0	0	0.001368	0	0
AMICA1	120425	broad.mit.edu	37	11	118083243	118083243	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:118083243G>A	ENST00000292067.7	-	2	488	c.47C>T	c.(46-48)tCc>tTc	p.S16F	AMICA1_ENST00000533261.1_Missense_Mutation_p.S26F|AMICA1_ENST00000526620.1_5'UTR|AMICA1_ENST00000356289.5_Missense_Mutation_p.S26F	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	26					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCAGGCGGGGAAACATTCAA	0.413000													24	8					0	0	0.004656	0	0
LRRC1	55227	broad.mit.edu	37	6	53764569	53764569	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:53764569C>T	ENST00000370888.1	+	8	944	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	223						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAAGAACCTGCTGTGTTTAGA	0.383000													15	53					0	0	0.004990	0	0
IPO4	79711	broad.mit.edu	37	14	24653884	24653884	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:24653884G>A	ENST00000354464.6	-	16	1784	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	536					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGGCTGAAGGTCCTCACGGC	0.612000													6	4					0	0	0.001168	0	0
DISP1	84976	broad.mit.edu	37	1	223176915	223176915	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:223176915C>A	ENST00000284476.6	+	8	2340	c.2176C>A	c.(2176-2178)Ctt>Att	p.L726I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	726					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTTTTGGTTCCTTGCCTTAAC	0.428000													9	649					0.00621372	0.00944674	0.006214	1	0
OR6C2	341416	broad.mit.edu	37	12	55846554	55846554	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:55846554C>T	ENST00000322678.1	+	1	557	c.557C>T	c.(556-558)tCa>tTa	p.S186L	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTAAAGATCTCATGCTCAGAT	0.413000													39	45					0	0	0.006999	0	0
SSPO	23145	broad.mit.edu	37	7	149497416	149497416	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:149497416G>A	ENST00000378016.2	+	0	7174							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)			TGTGCAGTGTGGCCCCGGCCA	0.672000													9	11					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179432162	179432162	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179432162C>T	ENST00000589042.1	-	326	78921	c.78697G>A	c.(78697-78699)Gaa>Aaa	p.E26233K	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24592K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17168K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17293K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17360K|TTN_ENST00000342992.6_Missense_Mutation_p.E23665K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24592	Fibronectin type-III 91.						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)			TCTTCAATTTCCTTATCTCCT	0.378000													27	82					0	0	0.004656	0	0
ZNF229	7772	broad.mit.edu	37	19	44936434	44936434	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:44936434G>A	ENST00000291187.4	-	5	523	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.F67F	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTAGGTTCCTGAAATTCTCCT	0.483000													41	28					0	0	0.003214	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190014	233190014	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:233190014C>T	ENST00000258229.8	-	25	4585	c.4351_splice	c.e25+1	p.G1451_splice	PCNXL2_ENST00000344698.2_Splice_Site_p.G103_splice	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1451						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)				AAATTCTTACCTCGGAATTCC	0.363000													5	20					0	0	0.000602	0	0
LOC645752	645752	broad.mit.edu	37	15	78212383	78212383	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:78212383G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CTGCCACCGGGCCCTCTCTCC	0.498000													19	46					0	0	0.007291	0	0
BRDT	676	broad.mit.edu	37	1	92446543	92446543	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:92446543C>T	ENST00000370389.2	+	10	2263	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	BRDT_ENST00000399546.2_Silent_p.L520L|BRDT_ENST00000402388.1_Silent_p.L520L|BRDT_ENST00000394530.3_Silent_p.L474L|BRDT_ENST00000362005.3_Silent_p.L520L	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCAGTTAAGTCTGAATATAAA	0.373000													21	22					0	0	0.001523	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475510	157475510	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:157475510G>A	ENST00000389413.3	-	12	1924	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	PTPRN2_ENST00000409483.1_Silent_p.I598I|PTPRN2_ENST00000404321.2_Silent_p.I659I|PTPRN2_ENST00000389416.4_Silent_p.I619I|PTPRN2_ENST00000389418.4_Silent_p.I636I	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	636						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGAGGCAGTAGATGAGGCCAG	0.632000													56	34					0	0	0.003610	0	0
CLIP2	7461	broad.mit.edu	37	7	73790454	73790454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:73790454C>T	ENST00000223398.6	+	10	2050	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	CLIP2_ENST00000395060.1_Nonsense_Mutation_p.Q575*|CLIP2_ENST00000361545.5_Nonsense_Mutation_p.Q540*	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	575						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAAGGCCTACCAGGCGGAGGT	0.642000													12	18					0	0	0.000978	0	0
ABCG1	9619	broad.mit.edu	37	21	43645804	43645804	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:43645804G>A	ENST00000398457.2	+	3	332	c.72G>A	c.(70-72)gaG>gaA	p.E24E	ABCG1_ENST00000361802.2_Silent_p.E22E|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Silent_p.E19E|ABCG1_ENST00000343687.3_Silent_p.E33E|ABCG1_ENST00000398449.3_Silent_p.E22E	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	22					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACTCTGCAGAGATGACGGAGC	0.483000													49	36					0	0	0.003610	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			58	62					2.18419e-29	3.37373e-29	0.003610	1	0
OR51B6	390058	broad.mit.edu	37	11	5372760	5372760	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:5372760C>T	ENST00000380219.1	+	1	23	c.23C>T	c.(22-24)tCc>tTc	p.S8F	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTCTGCTTCCACCTTCCAG	0.448000													14	7					0	0	0.004990	0	0
DPP3	10072	broad.mit.edu	37	11	66272217	66272217	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:66272217C>T	ENST00000532677.1	+	17	2471	c.2070C>T	c.(2068-2070)ctC>ctT	p.L690L	DPP3_ENST00000453114.1_Silent_p.L671L|DPP3_ENST00000530165.1_Silent_p.L641L|DPP3_ENST00000360510.2_Silent_p.L671L|DPP3_ENST00000541961.1_Silent_p.L671L|DPP3_ENST00000531863.1_Silent_p.L691L	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	671			E -> K (in dbSNP:rs12421620).		proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTCGGAAGCTCATTGTTCAGC	0.577000													40	26					0	0	0.003214	0	0
FREM1	158326	broad.mit.edu	37	9	14806683	14806683	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:14806683T>A	ENST00000380881.4	-	19	4068	c.3253A>T	c.(3253-3255)Aaa>Taa	p.K1085*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.K1084*|FREM1_ENST00000380880.3_Nonsense_Mutation_p.K1084*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1084					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATATTGCTTTTTTCAAAACCC	0.428000													9	1					0	0	0.008291	0	0
STK31	56164	broad.mit.edu	37	7	23776582	23776582	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:23776582A>G	ENST00000354639.3	+	8	1297	c.833A>G	c.(832-834)aAg>aGg	p.K278R	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.K301R|STK31_ENST00000428484.1_Missense_Mutation_p.K278R|STK31_ENST00000433467.2_Missense_Mutation_p.K301R	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	301							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAAAAAATTAAGCAGGACCAG	0.333000													6	32					0	0	0.003080	0	0
AIM1	202	broad.mit.edu	37	6	106978146	106978146	+	Silent	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:106978146T>C	ENST00000369066.3	+	6	3937	c.3450T>C	c.(3448-3450)ttT>ttC	p.F1150F		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1150	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGCAGGGATTTGGTGTAATGC	0.343000													37	30					0	0	0.007835	0	0
AKAP9	10142	broad.mit.edu	37	7	91682262	91682262	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:91682262C>T	ENST00000359028.2	+	23	5852	c.5627C>T	c.(5626-5628)aCt>aTt	p.T1876I	AKAP9_ENST00000356239.3_Missense_Mutation_p.T1864I|AKAP9_ENST00000358100.2_Missense_Mutation_p.T1876I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1876	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATAAGTGAAACTAGCAGTCAG	0.378000			T	BRAF	papillary thyroid								4	18					0	0	0.000248	0	0
RERE	473	broad.mit.edu	37	1	8420722	8420722	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:8420722G>A	ENST00000337907.3	-	19	3479	c.2845C>T	c.(2845-2847)Ccc>Tcc	p.P949S	RERE_ENST00000476556.1_Missense_Mutation_p.P395S|RERE_ENST00000377464.1_Missense_Mutation_p.P681S|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P949S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	949	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAGAGGTGGGGAGGGTGCTTG	0.697000													32	46					0	0	0.004878	0	0
PHF14	9678	broad.mit.edu	37	7	11076223	11076223	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:11076223C>T	ENST00000403050.3	+	9	2233	c.1781C>T	c.(1780-1782)cCa>cTa	p.P594L	PHF14_ENST00000445996.2_Missense_Mutation_p.P309L	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	594							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GATATCTTTCCAGTGGACAAT	0.418000													41	23					0	0	0.003610	0	0
DHRS9	10170	broad.mit.edu	37	2	169939917	169939917	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:169939917G>A	ENST00000327239.4	+	6	1896	c.392G>A	c.(391-393)aGa>aAa	p.R131K	DHRS9_ENST00000602501.1_Missense_Mutation_p.R131K|DHRS9_ENST00000432060.2_Missense_Mutation_p.R191K|DHRS9_ENST00000357546.2_Missense_Mutation_p.R131K|DHRS9_ENST00000428522.1_Missense_Mutation_p.R131K|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000436483.2_Missense_Mutation_p.R131K|DHRS9_ENST00000412271.1_Missense_Mutation_p.R131K	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	131					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAGGACTACAGAGAACCTATT	0.468000													8	47					0	0	0.004482	0	0
MGAM	8972	broad.mit.edu	37	7	141760126	141760126	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:141760126C>T	ENST00000475668.2	+	34	4129	c.4075C>T	c.(4075-4077)Cct>Tct	p.P1359S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1359S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1359	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCCTGATTTTCCTGATGTTGT	0.438000													9	48					0	0	0.008291	0	0
CDYL2	124359	broad.mit.edu	37	16	80654830	80654830	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:80654830G>A	ENST00000299564.8	-	4	992	c.837C>T	c.(835-837)atC>atT	p.I279I	CDYL2_ENST00000563890.1_Silent_p.I280I|CDYL2_ENST00000562812.1_Silent_p.I280I|CDYL2_ENST00000566173.1_Silent_p.I280I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	279						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTTCTTTCATGATCTGCCGGC	0.582000													4	5					0	0	0.000602	0	0
SNHG14	104472715	broad.mit.edu	37	15	25457071	25457071	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:25457071C>T	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCCGAGATTTCCGGCAGGGCC	0.537000													13	25					0	0	0.001855	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12979744	12979744	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:12979744C>T	ENST00000361079.2	+	4	1019	c.936C>T	c.(934-936)ctC>ctT	p.L312L						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCATCTCTCTTGGTGCC	0.567000													9	62					0	0	0.008291	0	0
VCAM1	7412	broad.mit.edu	37	1	101186235	101186235	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:101186235G>A	ENST00000294728.2	+	2	369	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	VCAM1_ENST00000370115.1_Missense_Mutation_p.E90K|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.E90K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	90	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTTGGGAACGAACACTCTTA	0.423000													5	18					0	0	0.000602	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794751	18794751	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:18794751G>A	ENST00000377428.2	+	1	382	c.292G>A	c.(292-294)Gga>Aga	p.G98R	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		CATGTATCCGGGACCTGCCAG	0.502000													15	20					0	0	0.008871	0	0
MRPL11	65003	broad.mit.edu	37	11	66204342	66204342	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:66204342G>A	ENST00000329819.4	-	5	591	c.512C>T	c.(511-513)tCc>tTc	p.S171F	MRPL11_ENST00000310999.7_Intron|MRPL11_ENST00000430466.2_Intron|MRPL11_ENST00000524576.1_Intron	NM_170739.2	NP_733935.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	0					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						ATCCTTCATGGAGATCTTTCC	0.473000													29	13					0	0	0.002096	0	0
ENAM	10117	broad.mit.edu	37	4	71500188	71500188	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:71500188C>T	ENST00000396073.3	+	6	655	c.374C>T	c.(373-375)cCc>cTc	p.P125L		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	125					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCCAGAAACCCAACCAGACT	0.527000													16	43					0	0	0.006122	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714776	92714776	+	Silent	SNP	C	C	T	rs147960983		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:92714776C>T	ENST00000257068.2	+	2	393	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	129					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCTCTGTCTTCAATATCACTG	0.592000													105	63					0	0	0.003610	0	0
CGNL1	84952	broad.mit.edu	37	15	57731424	57731424	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:57731424G>A	ENST00000281282.5	+	2	1305	c.1227G>A	c.(1225-1227)agG>agA	p.R409R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	409	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AATTCAGTAGGAACTTGGGCA	0.557000													17	60					0	0	0.006122	0	0
CFB	629	broad.mit.edu	37	6	31895820	31895820	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31895820C>G	ENST00000456570.1	+	2	190	c.135C>G	c.(133-135)agC>agG	p.S45R	CFB_ENST00000477310.1_Missense_Mutation_p.S45R|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.S45R|C2_ENST00000418949.2_Missense_Mutation_p.S45R|C2_ENST00000442278.2_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.S45R|C2_ENST00000452323.2_Intron			P00751	CFAB_HUMAN	complement factor B	56	Sushi 1.				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						CTCCTGGGAGCCTTCTCACCT	0.652000													87	269					0	0	0.003610	0	0
HIPK2	28996	broad.mit.edu	37	7	139299045	139299045	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:139299045G>A	ENST00000406875.3	-	8	2071	c.1977C>T	c.(1975-1977)ccC>ccT	p.P659P	HIPK2_ENST00000428878.2_Silent_p.P632P|HIPK2_ENST00000342645.6_Silent_p.P659P	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	659	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGAAGCCGGGGGGACACACGA	0.612000													5	7					0	0	0.001168	0	0
ZNF676	163223	broad.mit.edu	37	19	22363780	22363780	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22363780G>A	ENST00000397121.2	-	3	1056	c.739C>T	c.(739-741)Cat>Tat	p.H247Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTATCTTA	0.368000													13	18					0	0	0.001855	0	0
DICER1	23405	broad.mit.edu	37	14	95593004	95593004	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:95593004C>T	ENST00000526495.1	-	9	1107	c.816G>A	c.(814-816)atG>atA	p.M272I	DICER1_ENST00000343455.3_Missense_Mutation_p.M272I|DICER1_ENST00000393063.1_Missense_Mutation_p.M272I|DICER1_ENST00000527414.1_Missense_Mutation_p.M272I|DICER1_ENST00000541352.1_Missense_Mutation_p.M272I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	272	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTCTAATTCCATCAGCAGTC	0.333000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				32	58					0	0	0.003271	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302141	179302141	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:179302141G>A	ENST00000356834.3	-	12	1984	c.1947C>T	c.(1945-1947)ttC>ttT	p.F649F	TBC1D9B_ENST00000355235.3_Silent_p.F649F	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	649	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCGGCAGGAAGTCTCTCG	0.627000													27	14					0	0	0.008361	0	0
KIF2C	11004	broad.mit.edu	37	1	45223287	45223287	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:45223287C>T	ENST00000372217.1	+	10	1226	c.875C>T	c.(874-876)gCa>gTa	p.A292V	KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372224.4_Missense_Mutation_p.A346V|KIF2C_ENST00000372218.4_Missense_Mutation_p.A305V|KIF2C_ENST00000372222.3_Missense_Mutation_p.A233V			Q99661	KIF2C_HUMAN	kinesin family member 2C	346	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ACTTGTTTTGCATATGGCCAG	0.493000													27	24					0	0	0.001786	0	0
ARSA	410	broad.mit.edu	37	22	51065310	51065310	+	Silent	SNP	G	G	A	rs149026944	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:51065310G>A	ENST00000547307.1	-	3	1035	c.630C>T	c.(628-630)gcC>gcT	p.A210A	ARSA_ENST00000453344.2_Silent_p.A126A|ARSA_ENST00000395621.3_Silent_p.A212A|ARSA_ENST00000547805.1_Silent_p.A210A|ARSA_ENST00000216124.5_Silent_p.A212A|ARSA_ENST00000395619.3_Silent_p.A212A|ARSA_ENST00000356098.5_Silent_p.A212A			P15289	ARSA_HUMAN	arylsulfatase A	210						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	p.A210A(1)		endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GCTGGGCGTCGGCCATGAGGT	0.652000													82	110					0	0	0.003610	0	0
CPXM2	119587	broad.mit.edu	37	10	125558698	125558698	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:125558698G>A	ENST00000241305.3	-	5	825	c.671C>T	c.(670-672)tCc>tTc	p.S224F	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	224	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GACCTTATAGGATGTCACCCA	0.423000													29	92					0	0	0.002096	0	0
PPP6R3	55291	broad.mit.edu	37	11	68367904	68367904	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:68367904C>T	ENST00000393799.2	+	20	2401	c.2134C>T	c.(2134-2136)Ccg>Tcg	p.P712S	PPP6R3_ENST00000265637.4_Missense_Mutation_p.P666S|PPP6R3_ENST00000524904.1_Missense_Mutation_p.P706S|PPP6R3_ENST00000393800.2_Missense_Mutation_p.P712S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.P712S|PPP6R3_ENST00000265636.5_Missense_Mutation_p.P632S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.P683S|PPP6R3_ENST00000534534.1_Missense_Mutation_p.P480S|PPP6R3_ENST00000529710.1_Missense_Mutation_p.P632S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.P677S			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	712					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACAGAGGAGCCGATGCCAAC	0.527000													19	14					0	0	0.006122	0	0
SCN3A	6328	broad.mit.edu	37	2	165947758	165947758	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:165947758G>A	ENST00000360093.3	-	28	5396	c.4905C>T	c.(4903-4905)atC>atT	p.I1635I	SCN3A_ENST00000540861.1_Silent_p.I118I|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Silent_p.I1586I|SCN3A_ENST00000283254.7_Silent_p.I1635I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1635						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)	TTGCTCCTTTGATCAGACGTA	0.483000													33	41					0	0	0.003271	0	0
C1orf106	55765	broad.mit.edu	37	1	200880589	200880589	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:200880589C>T	ENST00000367342.4	+	9	1423	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	C1orf106_ENST00000413687.2_Missense_Mutation_p.S323F	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	408										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGGTGGATTCCTTCCGGGCG	0.632000													42	170					0	0	0.003610	0	0
MCTP2	55784	broad.mit.edu	37	15	95013640	95013640	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:95013640C>T	ENST00000357742.4	+	20	2439	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	MCTP2_ENST00000451018.3_Silent_p.F758F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	813					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTTGTATTTCATTCCACTGC	0.403000													29	102					0	0	0.003271	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814196	106814196	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:106814196C>T	ENST00000407775.2	+	8	2136	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S497F|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S360F|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S497F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	629					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATCAATTCTTCCACTGTCTTA	0.443000													20	35					0	0	0.001523	0	0
RBM19	9904	broad.mit.edu	37	12	114386824	114386824	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:114386824C>T	ENST00000545145.2	-	10	1168	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	RBM19_ENST00000392561.3_Missense_Mutation_p.V364M|RBM19_ENST00000261741.5_Missense_Mutation_p.V364M	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	364	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCCTGAACACCTCGATGTAG	0.562000													48	60					0	0	0.003610	0	0
GPC6	10082	broad.mit.edu	37	13	94680006	94680006	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:94680006C>T	ENST00000377047.4	+	4	1350	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	245						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CAGGGTGTATCCGTGCCCTCA	0.468000													43	27					0	0	0.003610	0	0
SYPL1	6856	broad.mit.edu	37	7	105739611	105739611	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:105739611G>A	ENST00000455385.2	-	2	309	c.187C>T	c.(187-189)Cca>Tca	p.P63S	SYPL1_ENST00000470347.1_Missense_Mutation_p.P63S|SYPL1_ENST00000011473.2_Missense_Mutation_p.P81S	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	81	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CACCTGAATGGATAACCAAAA	0.363000													22	114					0	0	0.005443	0	0
C10orf137	26098	broad.mit.edu	37	10	127436490	127436490	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:127436490C>T	ENST00000337623.3	+	20	3035	c.2930C>T	c.(2929-2931)tCa>tTa	p.S977L	RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.S1011L|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	1011					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATGTGGATTCAGTGTCTGCT	0.458000													25	29					0	0	0.003330	0	0
DNAH3	55567	broad.mit.edu	37	16	20970706	20970706	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:20970706C>T	ENST00000261383.3	-	54	10620	c.10621G>A	c.(10621-10623)Gat>Aat	p.D3541N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3541	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATACCAAGATCATCAGCAAAC	0.478000													18	61					0	0	0.007413	0	0
IRS1	3667	broad.mit.edu	37	2	227662073	227662073	+	Missense_Mutation	SNP	T	T	C	rs138145752		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:227662073T>C	ENST00000305123.4	-	1	2402	c.1382A>G	c.(1381-1383)gAg>gGg	p.E461G		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	461					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTTGCTTAGCTCCTCCTCACC	0.622000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	94					0	0	0.006320	0	0
CPED1	79974	broad.mit.edu	37	7	120629778	120629778	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:120629778C>T	ENST00000310396.5	+	2	570	c.103C>T	c.(103-105)Ctc>Ttc	p.L35F	CPED1_ENST00000450913.2_Missense_Mutation_p.L35F|CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.L35F	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GACTCTGACCCTCCGAGGGTC	0.587000													15	86					0	0	0.007413	0	0
CCKBR	887	broad.mit.edu	37	11	6290959	6290959	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:6290959G>A	ENST00000525462.1	+	2	215	c.212G>A	c.(211-213)gGa>gAa	p.G71E	CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.G71E|CCKBR_ENST00000525014.1_Missense_Mutation_p.G71E			P32239	GASR_HUMAN	cholecystokinin B receptor	71					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AGCGTTGGAGGAAATATGCTC	0.557000													40	22					0	0	0.008740	0	0
SALL1	6299	broad.mit.edu	37	16	51175859	51175859	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:51175859C>T	ENST00000251020.4	-	2	307	c.274G>A	c.(274-276)Gat>Aat	p.D92N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	92					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGGATTATCAGGAGGGGGG	0.443000													32	48					0	0	0.002445	0	0
NAMPT	10135	broad.mit.edu	37	7	105913095	105913095	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:105913095C>T	ENST00000222553.3	-	4	635	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	NAMPT_ENST00000484527.1_5'UTR|NAMPT_ENST00000354289.4_Missense_Mutation_p.G110R	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	110					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GGAAGATGCCCATCATACTTC	0.373000													16	19					0	0	0.007413	0	0
OR10H1	26539	broad.mit.edu	37	19	15917920	15917920	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:15917920G>C	ENST00000334920.2	-	1	1016	c.928C>G	c.(928-930)Ctc>Gtc	p.L310V		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCTGGGTAGAGTTTACTGAAG	0.443000													27	9					0	0	0.006320	0	0
VAV3	10451	broad.mit.edu	37	1	108292186	108292186	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:108292186G>A	ENST00000370056.4	-	14	1564	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	VAV3_ENST00000371846.4_Silent_p.I365I|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.I430I	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	430	PH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCTTACATACGATCACTGCCA	0.303000													10	33					0	0	0.001368	0	0
C8B	732	broad.mit.edu	37	1	57409439	57409439	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:57409439G>A	ENST00000543257.1	-	9	1574	c.1008C>T	c.(1006-1008)gcC>gcT	p.A336A	C8B_ENST00000535057.1_Silent_p.A326A|C8B_ENST00000371237.4_Silent_p.A388A	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	388	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCTCTTCAATGGCACCACCAA	0.418000													13	55					0	0	0.003163	0	0
ZHX1	11244	broad.mit.edu	37	8	124267562	124267562	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:124267562C>T	ENST00000395571.3	-	3	1242	c.625G>A	c.(625-627)Gag>Aag	p.E209K	ZHX1_ENST00000522655.1_Missense_Mutation_p.E209K|ZHX1_ENST00000297857.2_Missense_Mutation_p.E209K|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	209					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCTCTTTCTCTTCAGGAACG	0.328000													32	43					0	0	0.002445	0	0
ZFHX3	463	broad.mit.edu	37	16	72828864	72828864	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:72828864G>A	ENST00000268489.5	-	9	8389	c.7717C>T	c.(7717-7719)Cct>Tct	p.P2573S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1659S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2573					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGCATGAAAGGCATATCCAGG	0.557000													11	37					0	0	0.001368	0	0
ARAP3	64411	broad.mit.edu	37	5	141059915	141059915	+	Silent	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:141059915A>G	ENST00000239440.4	-	2	204	c.139T>C	c.(139-141)Ttg>Ctg	p.L47L	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	47	SAM.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGATGCCCAACTGCTTCAAC	0.627000													21	12					0	0	0.003954	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762630	37762630	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:37762630C>T	ENST00000302584.4	-	2	443	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	75					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			tcgccttcctcctTGACCTCG	0.716000													6	0					0	0	0.001168	0	0
CENPE	1062	broad.mit.edu	37	4	104065637	104065637	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:104065637C>T	ENST00000265148.3	-	33	5085	c.4996G>A	c.(4996-4998)Gag>Aag	p.E1666K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1641K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1666					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)		CTTATATTCTCCGTTTCTATG	0.388000													49	76					0	0	0.003610	0	0
SPATA6	54558	broad.mit.edu	37	1	48865252	48865252	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:48865252G>C	ENST00000371847.3	-	7	715	c.551C>G	c.(550-552)tCa>tGa	p.S184*	SPATA6_ENST00000371843.3_Nonsense_Mutation_p.S184*|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.S112*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	184					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTGTGATCTTGATGTTCTGTT	0.313000													7	21					0	0	0.001984	0	0
LRRC20	55222	broad.mit.edu	37	10	72083683	72083683	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:72083683G>A	ENST00000355790.4	-	4	813	c.336C>T	c.(334-336)ttC>ttT	p.F112F	LRRC20_ENST00000373224.1_Silent_p.F112F|LRRC20_ENST00000395011.1_Silent_p.F62F|LRRC20_ENST00000358141.2_Silent_p.F62F|LRRC20_ENST00000395010.1_Intron	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	112										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GCTGCTCAGGGAAGTCCTGGA	0.647000													10	44					0	0	0.001855	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148699251	148699251	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:148699251C>T	ENST00000296721.4	+	13	1684	c.1586C>T	c.(1585-1587)aCc>aTc	p.T529I	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.T529I	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	529							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTGGAGACCTTAACCAGC	0.597000													13	6					0	0	0.001368	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197193	44197193	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:44197193C>T	ENST00000393841.1	+	4	587	c.96C>T	c.(94-96)ttC>ttT	p.F32F	SLC29A1_ENST00000371713.1_Silent_p.F32F|SLC29A1_ENST00000371755.3_Silent_p.F32F|SLC29A1_ENST00000427851.2_Silent_p.F32F|SLC29A1_ENST00000371708.1_Silent_p.F32F|SLC29A1_ENST00000371724.1_Silent_p.F32F|SLC29A1_ENST00000371740.5_Silent_p.F32F|SLC29A1_ENST00000313248.7_Silent_p.F111F|SLC29A1_ENST00000371731.1_Silent_p.F32F|SLC29A1_ENST00000393844.1_Silent_p.F32F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	32					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GGAATTTTTTCATGACGGCCA	0.552000													38	131					0	0	0.008740	0	0
C2CD3	26005	broad.mit.edu	37	11	73879454	73879454	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:73879454G>A	ENST00000334126.7	-	2	486	c.260C>T	c.(259-261)gCt>gTt	p.A87V	C2CD3_ENST00000313663.7_Missense_Mutation_p.A87V|C2CD3_ENST00000539061.1_Missense_Mutation_p.A87V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	87						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGTTCTCACAGCTTTTGGTTC	0.448000													28	10					0	0	0.002445	0	0
AOX1	316	broad.mit.edu	37	2	201502954	201502954	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:201502954C>T	ENST00000374700.2	+	23	2738	c.2497C>T	c.(2497-2499)Cgc>Tgc	p.R833C	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	833					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGCAGTTCGCTGTGTTCT	0.458000													47	52					0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196723507	196723507	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:196723507C>T	ENST00000312428.6	-	43	7858	c.7758G>A	c.(7756-7758)aaG>aaA	p.K2586K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2586	Stalk (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						CTTCATATCTCTTTTTCATTT	0.373000													27	33					0	0	0.006320	0	0
CHMP7	91782	broad.mit.edu	37	8	23114091	23114091	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:23114091C>T	ENST00000397677.1	+	5	1424	c.776C>T	c.(775-777)tCc>tTc	p.S259F	CHMP7_ENST00000313219.7_Missense_Mutation_p.S259F	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	259					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAGTCCTTATCCCAGGAAGCA	0.517000													33	117					0	0	0.003755	0	0
FARP1	10160	broad.mit.edu	37	13	99038001	99038001	+	Missense_Mutation	SNP	C	C	T	rs150061718	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:99038001C>T	ENST00000376586.2	+	8	1028	c.692C>T	c.(691-693)cCg>cTg	p.P231L	FARP1_ENST00000595437.1_Missense_Mutation_p.P231L|FARP1_ENST00000319562.6_Missense_Mutation_p.P231L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	231	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGGTTGCACCCGGCCAAGGAC	0.502000													36	18					0	0	0.006230	0	0
POLA2	23649	broad.mit.edu	37	11	65062070	65062070	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:65062070C>T	ENST00000265465.3	+	15	1938	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	POLA2_ENST00000541089.1_Silent_p.F261F|POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	469					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	p.F469F(2)		endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GAGTGATCTTCGGCTTGACAT	0.493000													38	32					0	0	0.002852	0	0
NEU4	129807	broad.mit.edu	37	2	242755766	242755766	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:242755766C>T	ENST00000391969.2	+	3	796	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	NEU4_ENST00000407683.1_Missense_Mutation_p.P29S|NEU4_ENST00000405370.1_Missense_Mutation_p.P29S|NEU4_ENST00000325935.6_Missense_Mutation_p.P42S|NEU4_ENST00000404257.1_Missense_Mutation_p.P41S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	29						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTCGCTGCTCCCCGTGCCCCC	0.706000													19	17					0	0	0.008871	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768774	127768774	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:127768774T>A	ENST00000483725.3	-	5	1026	c.690A>T	c.(688-690)gaA>gaT	p.E230D	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	230							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTTTCTGTTTTTCTTTTTCTA	0.353000													22	12					0	0	0.001882	0	0
DMBT1	1755	broad.mit.edu	37	10	124345750	124345750	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:124345750G>A	ENST00000368909.3	+	16	1740	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G535E|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G535E|DMBT1_ENST00000338354.3_Missense_Mutation_p.G545E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	545	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGCCCCAGGAAATGCCCGG	0.617000													83	90					0	0	0.003610	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420282	55420282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:55420282G>A	ENST00000242994.3	+	2	437	c.59G>A	c.(58-60)tGg>tAg	p.W20*		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	20					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ACACCATCCTGGATGGATAAA	0.443000													9	23					0	0	0.008291	0	0
LDLR	3949	broad.mit.edu	37	19	11231068	11231068	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:11231068C>T	ENST00000558518.1	+	14	2197	c.2010C>T	c.(2008-2010)acC>acT	p.T670T	LDLR_ENST00000455727.2_Silent_p.T502T|LDLR_ENST00000558013.1_Silent_p.T670T|LDLR_ENST00000557933.1_Silent_p.T670T|LDLR_ENST00000535915.1_Silent_p.T629T|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	670	EGF-like 3.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GTGAGAGGACCACCCTGAGCA	0.582000													83	38					0	0	0.003610	0	0
COL25A1	84570	broad.mit.edu	37	4	109784531	109784531	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:109784531C>T	ENST00000399132.1	-	21	1626	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	COL25A1_ENST00000399126.1_Missense_Mutation_p.E366K|COL25A1_ENST00000399127.1_Missense_Mutation_p.E362K	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	366	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCCCTGCTTCCCCCCGTTCA	0.498000													15	28					0	0	0.008871	0	0
TRAV35	28647	broad.mit.edu	37	14	22689883	22689883	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:22689883G>A	ENST00000390462.1	+	0	46																											ATTCTAAAGGGAAGGAAATTC	0.413000													4	2					0	0	0.000602	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602681	96602681	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96602681C>T	ENST00000371321.3	+	7	1131	c.1049C>T	c.(1048-1050)gCt>gTt	p.A350V	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	350					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TACACAGATGCTGTGGTGCAC	0.542000													53	42					0	0	0.003610	0	0
PTPN7	5778	broad.mit.edu	37	1	202128611	202128611	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:202128611C>G	ENST00000367279.4	-	1	508	c.37G>C	c.(37-39)Gaa>Caa	p.E13Q	PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000308986.5_Intron	NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	0						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CGCTGCTGTTCTCTGGCCTGC	0.627000													13	39					0	0	0.001368	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773765	25773765	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:25773765C>T	ENST00000377905.4	+	8	969	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Missense_Mutation_p.P54S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	284					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGGTCTCTTCCCATTAGGGC	0.453000													18	51					0	0	0.008871	0	0
SLC9C1	285335	broad.mit.edu	37	3	111899473	111899473	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:111899473C>T	ENST00000305815.5	-	22	2938	c.2686G>A	c.(2686-2688)Gat>Aat	p.D896N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D848N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	896					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCAAATATATCATTTCCACAA	0.308000													5	31					0	0	0.003080	0	0
CNTN3	5067	broad.mit.edu	37	3	74347205	74347205	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:74347205G>A	ENST00000263665.6	-	17	2331	c.2304C>T	c.(2302-2304)atC>atT	p.I768I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	768	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATGGCACGATGCTTTCAT	0.453000													29	10					0	0	0.001786	0	0
CFH	3075	broad.mit.edu	37	1	196642191	196642191	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:196642191G>A	ENST00000367429.4	+	2	382	c.142G>A	c.(142-144)Gct>Act	p.A48T	CFH_ENST00000359637.2_Missense_Mutation_p.A48T|CFH_ENST00000439155.2_Missense_Mutation_p.A48T|CFH_ENST00000496761.1_3'UTR	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	48	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGGCACCCAGGCTATCTATAA	0.398000													12	9					0	0	0.000978	0	0
TDG	6996	broad.mit.edu	37	12	104376612	104376612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:104376612C>T	ENST00000392872.3	+	5	748	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Nonsense_Mutation_p.Q168*|TDG_ENST00000544861.1_Nonsense_Mutation_p.Q29*	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	172					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CAGTGAGGTCCAGCTGAACCA	0.448000								Base excision repair (BER), DNA glycosylases					30	55					0	0	0.001786	0	0
UMOD	7369	broad.mit.edu	37	16	20359594	20359594	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:20359594C>T	ENST00000396134.2	-	5	1146	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	UMOD_ENST00000396138.4_Silent_p.S357S|UMOD_ENST00000424589.1_Silent_p.S341S|UMOD_ENST00000570689.1_Silent_p.S308S|UMOD_ENST00000396142.2_Silent_p.S308S|UMOD_ENST00000302509.4_Silent_p.S308S	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	308	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCCATTATTCGATTTGCAGT	0.552000													37	107					0	0	0.008740	0	0
ANKAR	150709	broad.mit.edu	37	2	190554621	190554621	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:190554621C>T	ENST00000520309.1	+	3	1058	c.970C>T	c.(970-972)Cca>Tca	p.P324S	ANKAR_ENST00000431575.2_Missense_Mutation_p.P253S|ANKAR_ENST00000281412.6_Missense_Mutation_p.P88S|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.P324S|ANKAR_ENST00000438402.2_Missense_Mutation_p.P324S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	324						integral to membrane	binding	p.P253S(1)|p.P324S(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTTTCTGATTCCATTTCTACT	0.274000													15	64					0	0	0.003163	0	0
CPN2	1370	broad.mit.edu	37	3	194062013	194062013	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:194062013C>T	ENST00000323830.3	-	2	1508	c.1419G>A	c.(1417-1419)caG>caA	p.Q473Q	CPN2_ENST00000429275.1_Silent_p.Q473Q	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	473					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTGCCCTTTCCTGCACAGCCA	0.662000													13	46					0	0	0.001855	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945403	16945403	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:16945403G>A	ENST00000412962.1	-	0	2116																											GAAACCGCGGGATAGCTCGGT	0.597000													5	18					0	0	0.000602	0	0
USP19	10869	broad.mit.edu	37	3	49148998	49148998	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:49148998A>C	ENST00000453664.1	-	21	3434	c.3116T>G	c.(3115-3117)aTg>aGg	p.M1039R	USP19_ENST00000398892.3_Missense_Mutation_p.M988R|USP19_ENST00000398896.1_Missense_Mutation_p.M756R|USP19_ENST00000398898.2_Missense_Mutation_p.M988R|USP19_ENST00000434032.2_Missense_Mutation_p.M1049R|USP19_ENST00000417901.1_Missense_Mutation_p.M1051R|USP19_ENST00000398888.2_Missense_Mutation_p.M948R	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	948					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGGCCAGCATCTCAGAAGA	0.632000													27	32					0	0	0.006320	0	0
AHSP	51327	broad.mit.edu	37	16	31539942	31539942	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:31539942C>T	ENST00000302312.4	+	3	342	c.239C>T	c.(238-240)cCt>cTt	p.P80L	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	80					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CTGGCCAACCCTTTCCTGGCC	0.582000													12	19					0	0	0.001368	0	0
CLTC	1213	broad.mit.edu	37	17	57758286	57758286	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:57758286C>T	ENST00000269122.3	+	19	3207	c.2933C>T	c.(2932-2934)gCt>gTt	p.A978V	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A978V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	978	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTACAAACAGCTTTGTCTGAG	0.388000			T	"""ALK, TFE3"""	"""ALCL, renal """								64	25					0	0	0.003610	0	0
FRYL	285527	broad.mit.edu	37	4	48564928	48564928	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:48564928T>G	ENST00000537810.1	-	32	4278	c.3674A>C	c.(3673-3675)gAa>gCa	p.E1225A	FRYL_ENST00000503238.1_Missense_Mutation_p.E1225A|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.E1225A|FRYL_ENST00000358350.4_Missense_Mutation_p.E1225A			O94915	FRYL_HUMAN	FRY-like	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CATAGCAACTTCATAGATACT	0.294000													53	81					0	0	0.003610	0	0
PRDM14	63978	broad.mit.edu	37	8	70981505	70981505	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:70981505G>A	ENST00000276594.2	-	2	792	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CCTCCTCCGTGAACTGGAACC	0.602000													10	29					0	0	0.006214	0	0
OR7G1	125962	broad.mit.edu	37	19	9226274	9226274	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9226274G>A	ENST00000293614.1	-	1	165	c.166C>T	c.(166-168)Cac>Tac	p.H56Y	OR7G1_ENST00000541538.1_Missense_Mutation_p.H56Y			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ATGGGGGTGTGGAGGTGGGAG	0.483000													42	20					0	0	0.002852	0	0
ZNF682	91120	broad.mit.edu	37	19	20117929	20117929	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:20117929C>T	ENST00000397165.2	-	4	542	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	ZNF682_ENST00000597972.1_Missense_Mutation_p.E134K|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.E52K|ZNF682_ENST00000397162.1_Missense_Mutation_p.E96K|ZNF682_ENST00000358523.5_Missense_Mutation_p.E96K	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTATAAATTTCTTTTTGATCC	0.328000													29	15					0	0	0.002836	0	0
TP63	8626	broad.mit.edu	37	3	189608665	189608665	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:189608665C>T	ENST00000264731.3	+	13	1829	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S	TP63_ENST00000354600.5_Silent_p.S486S|TP63_ENST00000449992.1_Silent_p.S401S|TP63_ENST00000320472.5_Intron|TP63_ENST00000440651.2_Silent_p.S576S|TP63_ENST00000456148.1_Silent_p.S482S|TP63_ENST00000392460.3_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000382063.4_Silent_p.S495S|TP63_ENST00000392461.3_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	580	SAM.		S -> P (in EDRH).		anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCATTACTCCATGGATGTAA	0.418000										HNSCC(45;0.13)			24	32					0	0	0.002780	0	0
CBLB	868	broad.mit.edu	37	3	105438911	105438911	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:105438911G>A	ENST00000264122.4	-	10	1708	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	CBLB_ENST00000403724.1_Missense_Mutation_p.R463W|CBLB_ENST00000405772.1_Missense_Mutation_p.R463W|CBLB_ENST00000394027.3_Missense_Mutation_p.R485W|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	463					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTTGCCAACCGATTCATCATC	0.453000			Mis S		AML								17	22					0	0	0.007413	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332708	100332708	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:100332708G>A	ENST00000341853.1	-	0	1483					NR_003260.1																						CATCTCTGCAggggtgggggt	0.622000													9	26					0	0	0.008291	0	0
SULF2	55959	broad.mit.edu	37	20	46301014	46301014	+	Missense_Mutation	SNP	C	C	T	rs143133611	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:46301014C>T	ENST00000359930.4	-	11	2355	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	SULF2_ENST00000484875.1_Missense_Mutation_p.E502K|SULF2_ENST00000361612.4_Missense_Mutation_p.E502K|SULF2_ENST00000467815.1_Missense_Mutation_p.E502K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	502					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.E502K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGCAGGCCTCGCTGCCCTGC	0.617000													46	50					0	0	0.003610	0	0
C14orf37	145407	broad.mit.edu	37	14	58563465	58563465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:58563465C>T	ENST00000267485.7	-	5	2260	c.2066G>A	c.(2065-2067)tGg>tAg	p.W689*		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	689						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTGCTGTTCCCACTCGAGGGC	0.502000													6	5					0	0	0.001168	0	0
XIRP2	129446	broad.mit.edu	37	2	168102277	168102277	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:168102277C>T	ENST00000409195.1	+	9	4464	c.4375C>T	c.(4375-4377)Cac>Tac	p.H1459Y	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H1459Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H1237Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1284					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTGAAACCCACACTATGGA	0.363000													4	21					0	0	0.000248	0	0
PCDH15	65217	broad.mit.edu	37	10	55582895	55582895	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:55582895C>T	ENST00000361849.3	-	34	4991	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1508K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1491K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1531K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1462K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1528K	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1531					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E1531*(1)|p.K1530_E1531>N*(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTATGTTTTCCTTATAAAGG	0.368000										HNSCC(58;0.16)			20	36					0	0	0.008871	0	0
YBEY	54059	broad.mit.edu	37	21	47711300	47711300	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:47711300T>C	ENST00000329319.3	+	3	661	c.263T>C	c.(262-264)tTg>tCg	p.L88S	YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397694.1_Missense_Mutation_p.L43S|YBEY_ENST00000397691.1_Missense_Mutation_p.L88S|YBEY_ENST00000339195.6_Intron|YBEY_ENST00000397701.4_Missense_Mutation_p.L88S	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	88							metal ion binding|metalloendopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GACTACAATTTGGGAGACATT	0.398000													6	27					0	0	0.001984	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263115	144263115	+	Missense_Mutation	SNP	C	C	T	rs141235151		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:144263115C>T	ENST00000360537.2	-	5	2751	c.838G>A	c.(838-840)Gag>Aag	p.E280K	PLAGL1_ENST00000392307.1_Missense_Mutation_p.E228K|PLAGL1_ENST00000392309.1_Missense_Mutation_p.E280K|PLAGL1_ENST00000444202.1_Missense_Mutation_p.E280K|PLAGL1_ENST00000437412.1_Missense_Mutation_p.E228K|PLAGL1_ENST00000354765.2_Missense_Mutation_p.E280K|PLAGL1_ENST00000367572.1_Missense_Mutation_p.E228K|PLAGL1_ENST00000416623.1_Missense_Mutation_p.E280K|PLAGL1_ENST00000429150.1_Missense_Mutation_p.E280K|PLAGL1_ENST00000367571.1_Missense_Mutation_p.E280K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	280					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GCCAGGGACTCTGGCAGCGGC	0.612000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	180	101					0	0	0.003610	0	0
CEP128	145508	broad.mit.edu	37	14	81304583	81304583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:81304583G>A	ENST00000555265.1	-	11	1264	c.889C>T	c.(889-891)Caa>Taa	p.Q297*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q297*|CEP128_ENST00000216517.6_Nonsense_Mutation_p.Q297*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	297						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTTCTGATTGATTCAATAAC	0.333000													34	14					0	0	0.008740	0	0
IARS2	55699	broad.mit.edu	37	1	220267774	220267774	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:220267774C>T	ENST00000302637.5	+	1	320	c.216C>T	c.(214-216)ccC>ccT	p.P72P	IARS2_ENST00000366922.1_5'UTR	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	72					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CGAGCTTCCCCATGAAGCTGC	0.697000													8	6					0	0	0.004482	0	0
STK19	8859	broad.mit.edu	37	6	31940082	31940082	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31940082G>A	ENST00000375331.2	+	2	390	c.224G>A	c.(223-225)gGg>gAg	p.G75E	STK19_ENST00000375333.2_Missense_Mutation_p.G75E	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	75						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GGTCTAGGAGGGACGCCCGGG	0.602000													33	86					0	0	0.004878	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339113	79339113	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:79339113C>T	ENST00000419573.3	-	5	1127	c.853G>A	c.(853-855)Gac>Aac	p.D285N	RASGRF1_ENST00000558480.2_Missense_Mutation_p.D285N|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	285	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGCTGACGTCGTCGTGTGTG	0.572000													20	81					0	0	0.003330	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518063	84518063	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:84518063G>A	ENST00000331369.5	+	0	257																											ACTCTCAGCCGAAAAGTATAG	0.498000													10	40					0	0	0.006214	0	0
ELTD1	64123	broad.mit.edu	37	1	79404875	79404875	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:79404875T>C	ENST00000370742.3	-	4	457	c.394A>G	c.(394-396)Aaa>Gaa	p.K132E		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	132					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTACTTACTTTTGTTAAAGTT	0.259000													7	27					0	0	0.001984	0	0
TXNL4B	54957	broad.mit.edu	37	16	72120541	72120541	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:72120541T>C	ENST00000268483.3	-	4	766	c.445A>G	c.(445-447)Att>Gtt	p.I149V	RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000426362.2_Missense_Mutation_p.I149V|TXNL4B_ENST00000423037.1_Missense_Mutation_p.I149V	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	149					mitosis|mRNA processing|RNA splicing	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						ATGTACTAAATGTCTTGATAG	0.403000													13	49					0	0	0.004990	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958210	57958210	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:57958210C>T	ENST00000311591.3	+	1	305	c.248C>T	c.(247-249)gCt>gTt	p.A83V		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CAGATGCTGGCTGTGCTGTGG	0.587000													38	24					0	0	0.004289	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433365	72433365	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:72433365C>T	ENST00000373517.3	-	1	1319	c.964G>A	c.(964-966)Gga>Aga	p.G322R	NAP1L2_ENST00000536638.1_Missense_Mutation_p.G180R	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	322					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATCGCAGTTCCCCTATAGGGA	0.383000													50	34					0	0	0.003610	0	0
OR5F1	338674	broad.mit.edu	37	11	55762055	55762055	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:55762055C>T	ENST00000278409.1	-	1	46	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTCTGCTAATCCCAATAGGAC	0.348000													20	16					0	0	0.003330	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602826	37602826	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:37602826C>T	ENST00000399151.3	+	14	1829	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	582					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCTTCGTTTCCCCCTCTGAA	0.483000													15	39					0	0	0.003163	0	0
FLNA	2316	broad.mit.edu	37	X	153589684	153589684	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:153589684G>A	ENST00000422373.1	-	21	3447	c.3199C>T	c.(3199-3201)Cct>Tct	p.P1067S	FLNA_ENST00000344736.4_Missense_Mutation_p.P1067S|FLNA_ENST00000369850.3_Missense_Mutation_p.P1067S|FLNA_ENST00000360319.4_Missense_Mutation_p.P1067S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1067					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTTGCTAGGCTTGGTGGGG	0.612000													24	15					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179621414	179621414	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179621414C>T	ENST00000589042.1	-	46	11013	c.10789G>A	c.(10789-10791)Gaa>Aaa	p.E3597K	TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3426K|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3283							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)			GACTTAATTTCCTTTTGAGAT	0.408000													17	27					0	0	0.004007	0	0
SPRY4	81848	broad.mit.edu	37	5	141694664	141694664	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:141694664G>A	ENST00000344120.4	-	3	265	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S	SPRY4_ENST00000434127.2_Missense_Mutation_p.P4S	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	4					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGATCGGGGGCTCCATG	0.627000									Testicular Cancer, Familial Clustering of				16	10					0	0	0.003163	0	0
RGS8	85397	broad.mit.edu	37	1	182617273	182617273	+	Splice_Site	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:182617273T>C	ENST00000483095.2	-	6	616	c.360_splice	c.e6+1	p.E120_splice	RGS8_ENST00000367556.1_Splice_Site_p.E120_splice|RGS8_ENST00000258302.4_Splice_Site_p.E138_splice|RGS8_ENST00000367557.4_Splice_Site_p.E120_splice			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	120	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CCAACACACCTCCCGTGGAGC	0.522000													22	79					0	0	0.002299	0	0
ACO1	48	broad.mit.edu	37	9	32419034	32419034	+	Splice_Site	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:32419034A>T	ENST00000379923.1	+	8	864		c.e8-1		ACO1_ENST00000309951.5_Splice_Site|ACO1_ENST00000541043.1_Splice_Site	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGTTCATTGCAGGTGTCGGTG	0.478000													12	10					0	0	0.002450	0	0
RABL6	55684	broad.mit.edu	37	9	139734637	139734637	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:139734637G>A	ENST00000371675.3	+	14	2502	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Silent_p.K654K|RABL6_ENST00000371663.4_Silent_p.K655K					RAB, member RAS oncogene family-like 6																		CTaaggagaagaagaagaaga	0.577000													12	12					0	0	0.002450	0	0
SNRNP200	23020	broad.mit.edu	37	2	96970546	96970546	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:96970546G>A	ENST00000323853.5	-	2	183	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	SNRNP200_ENST00000349783.5_Missense_Mutation_p.P36S	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	36						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTCCTGTGGGTTCATCCCGG	0.527000													16	22					0	0	0.004007	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761399	150761399	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150761399C>T	ENST00000485713.1	+	3	1202	c.162C>T	c.(160-162)gcC>gcT	p.A54A	SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000413384.2_Silent_p.A54A|SLC4A2_ENST00000392826.2_Silent_p.A45A|SLC4A2_ENST00000461735.1_Silent_p.A40A	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	54	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACAGGAGGCCGGGTCTCGTG	0.662000													6	34					0	0	0.001984	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392672	22392672	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:22392672G>A	ENST00000390440.2	+	0	270																											GTGGGGAAATGATTTTTCTTA	0.448000													36	21					0	0	0.007835	0	0
RASAL2	9462	broad.mit.edu	37	1	178421659	178421659	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:178421659C>T	ENST00000448150.3	+	11	2645	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L	RASAL2_ENST00000462775.1_Silent_p.L479L|RASAL2_ENST00000367649.3_Silent_p.L627L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	479					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						CATTATTTCTCCGTTTTCTGT	0.483000													43	57					0	0	0.002852	0	0
GALNT13	114805	broad.mit.edu	37	2	154800969	154800969	+	Translation_Start_Site	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:154800969T>A	ENST00000392825.3	+	0	526					NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CACAGTAGCATTTGTCTTCAA	0.388000													25	34					0	0	0.003330	0	0
TLL2	7093	broad.mit.edu	37	10	98180820	98180820	+	Splice_Site	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:98180820T>G	ENST00000357947.3	-	7	1043		c.e7-2		TLL2_ENST00000469598.1_Splice_Site	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2						cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACTCCTGACCTGTGACACAAC	0.498000													12	62					0	0	0.001368	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820007	50820007	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:50820007C>T	ENST00000374115.3	+	1	1661	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	407					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CGCTCGCCTTCCTGGTGGACG	0.642000													5	21					0	0	0.001168	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57870159	57870159	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:57870159G>A	ENST00000393797.2	-	11	1509	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	ARHGAP9_ENST00000550288.1_Silent_p.P447P|ARHGAP9_ENST00000356411.2_Silent_p.P368P|ARHGAP9_ENST00000430041.2_Silent_p.P184P|ARHGAP9_ENST00000393791.3_Silent_p.P368P|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000424809.2_Silent_p.P368P			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	368					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCCTGAGGAGGGCGCTGTCG	0.687000													11	19					0	0	0.001368	0	0
IL18R1	8809	broad.mit.edu	37	2	103006552	103006552	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:103006552G>A	ENST00000409599.1	+	10	1342	c.986G>A	c.(985-987)aGa>aAa	p.R329K	IL18R1_ENST00000233957.1_Missense_Mutation_p.R329K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	329					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTCTTCACAAGAGGAATGATC	0.383000													14	25					0	0	0.003163	0	0
EBF2	64641	broad.mit.edu	37	8	25745398	25745398	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:25745398C>T	ENST00000520164.1	-	9	1379	c.842G>A	c.(841-843)gGt>gAt	p.G281D	EBF2_ENST00000408929.3_Missense_Mutation_p.G133D|EBF2_ENST00000535548.1_Missense_Mutation_p.G12D	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	281	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CACTTGGAGACCATCAAAGAA	0.498000													15	41					0	0	0.004990	0	0
PLXNA1	5361	broad.mit.edu	37	3	126751319	126751319	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:126751319C>T	ENST00000393409.2	+	29	5321	c.5321C>T	c.(5320-5322)tCg>tTg	p.S1774L	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1751L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1774					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCCTGCTTGTCGGTGGTGGCC	0.587000													12	38					0	0	0.001368	0	0
SYT16	83851	broad.mit.edu	37	14	62463079	62463079	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:62463079G>T	ENST00000430451.2	+	1	539	c.342G>T	c.(340-342)aaG>aaT	p.K114N	SYT16_ENST00000446982.2_Missense_Mutation_p.K114N	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	114										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AACATGCAAAGGACTCATGTT	0.458000													43	31					2.47872e-24	3.82472e-24	0.002522	1	0
SLC24A3	57419	broad.mit.edu	37	20	19665768	19665768	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:19665768G>A	ENST00000328041.6	+	12	1284	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	363						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAACAGCAGGGCTTATACCAA	0.512000													16	33					0	0	0.004990	0	0
MASP1	5648	broad.mit.edu	37	3	186953699	186953699	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:186953699C>T	ENST00000296280.6	-	11	2185	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	MASP1_ENST00000392472.2_Missense_Mutation_p.E541K|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	636	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTGCCGCCCTCGTAGTAGCCA	0.577000													9	24					0	0	0.008291	0	0
CIITA	4261	broad.mit.edu	37	16	11000490	11000490	+	Missense_Mutation	SNP	G	G	A	rs137852602		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:11000490G>A	ENST00000324288.8	+	11	1274	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	381					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTGGAGCGGGAACTGGCCAC	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								11	13					0	0	0.000978	0	0
CD84	8832	broad.mit.edu	37	1	160519762	160519762	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:160519762G>A	ENST00000368054.3	-	6	901	c.866C>T	c.(865-867)cCc>cTc	p.P289L	CD84_ENST00000311224.4_Missense_Mutation_p.P306L|CD84_ENST00000534968.1_Missense_Mutation_p.P175L|CD84_ENST00000368051.3_Silent_p.S256S|CD84_ENST00000368048.3_Missense_Mutation_p.P300L|RP11-528G1.2_ENST00000446952.1_RNA	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	306					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCCTTGGAGGGAAGCACCTG	0.493000													23	16					0	0	0.004656	0	0
ENAM	10117	broad.mit.edu	37	4	71500187	71500187	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:71500187C>T	ENST00000396073.3	+	6	654	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	125					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACCCAGAAACCCAACCAGAC	0.527000													16	43					0	0	0.007413	0	0
PMEL	6490	broad.mit.edu	37	12	56350935	56350935	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:56350935G>A	ENST00000548747.1	-	6	1814	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	PMEL_ENST00000536427.1_Intron|PMEL_ENST00000539511.1_Silent_p.V298V|PMEL_ENST00000449260.2_Silent_p.V384V|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Silent_p.V298V|PMEL_ENST00000552882.1_Silent_p.V384V|PMEL_ENST00000548493.1_Silent_p.V384V|PMEL_ENST00000360714.4_Silent_p.V384V			P40967	PMEL_HUMAN	premelanosome protein	384	10 X 13 AA approximate tandem repeats, RPT domain.				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGTACCCATGACCTCTGAAA	0.527000													14	54					0	0	0.003163	0	0
NCAN	1463	broad.mit.edu	37	19	19338113	19338113	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:19338113C>T	ENST00000252575.5	+	8	1727	c.1684C>T	c.(1684-1686)Cca>Tca	p.P562S	NCAN_ENST00000538881.1_Missense_Mutation_p.P13S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	562					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CAAGAGCTCCCCAGAGCCCTG	0.612000													36	22					0	0	0.006999	0	0
MIR300	100126297	broad.mit.edu	37	14	101507748	101507748	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:101507748G>A	ENST00000401138.1	+	0	49					NR_030582.1																						TACTTGCAATGATTATACAAG	0.493000													34	23					0	0	0.005524	0	0
MUC16	94025	broad.mit.edu	37	19	9070778	9070778	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9070778G>A	ENST00000397910.4	-	3	16871	c.16668C>T	c.(16666-16668)atC>atT	p.I5556I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5558	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						ATTTTGTCATGATGGGGGAGG	0.502000													57	32					0	0	0.003610	0	0
LNX1	84708	broad.mit.edu	37	4	54327130	54327130	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:54327130C>T	ENST00000306888.2	-	10	2094	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	LNX1_ENST00000263925.7_Missense_Mutation_p.E711K|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	711						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTTTAAGTTCTTTCAGCAGT	0.348000													25	39					0	0	0.003954	0	0
BLK	640	broad.mit.edu	37	8	11412914	11412914	+	Silent	SNP	G	G	A	rs111642844		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:11412914G>A	ENST00000259089.4	+	8	1285	c.693G>A	c.(691-693)caG>caA	p.Q231Q	BLK_ENST00000529894.1_Silent_p.Q160Q	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	231					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Q231H(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCTGGGCCCAGGATGAATGGG	0.612000													9	45					0	0	0.006214	0	0
NRG1	3084	broad.mit.edu	37	8	32621649	32621649	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:32621649A>C	ENST00000338921.4	+	13	2193	c.1676A>C	c.(1675-1677)aAg>aCg	p.K559T	NRG1_ENST00000539990.1_Missense_Mutation_p.K394T|NRG1_ENST00000287845.5_Missense_Mutation_p.K522T|NRG1_ENST00000519301.1_Missense_Mutation_p.K501T|NRG1_ENST00000287842.3_Missense_Mutation_p.K548T|NRG1_ENST00000287840.5_Missense_Mutation_p.K551T|NRG1_ENST00000356819.4_Missense_Mutation_p.K556T|NRG1_ENST00000405005.2_Missense_Mutation_p.K551T|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	551					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAAAGAACCAAGCCCAATGGC	0.498000													8	15					0	0	0.003080	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573688	106573688	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:106573688G>A	ENST00000407775.2	+	4	649	c.399G>A	c.(397-399)atG>atA	p.M133I	ZFPM2_ENST00000520492.1_Start_Codon_SNP_p.M1I|ZFPM2_ENST00000517361.1_Start_Codon_SNP_p.M1I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	133					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTGGGAAGATGGACTTGAATA	0.433000													4	23					0	0	0.000602	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159264	118159264	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:118159264G>A	ENST00000456015.2	+	2	143	c.143G>A	c.(142-144)gGa>gAa	p.G48E	SLC30A8_ENST00000521243.1_5'UTR|SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000427715.2_5'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	48					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CTGGAGTCAGGAGGCATGTAC	0.507000													112	164					0	0	0.003610	0	0
FILIP1	27145	broad.mit.edu	37	6	76022922	76022922	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:76022922T>A	ENST00000393004.2	-	5	2847	c.2626A>T	c.(2626-2628)Agg>Tgg	p.R876W	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R876W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R777W			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	876										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCGTTTTCCCTCTTTCTCATC	0.512000													35	52					0	0	0.002836	0	0
CDKL1	8814	broad.mit.edu	37	14	50796864	50796864	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:50796864G>A	ENST00000395834.1	-	9	1032	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	ATP5S_ENST00000358473.1_Intron	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	334						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					AAGCTGGAAGGATGCTGCTGC	0.353000													15	8					0	0	0.003163	0	0
DSC2	1824	broad.mit.edu	37	18	28667695	28667695	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:28667695C>T	ENST00000280904.6	-	6	1155	c.712G>A	c.(712-714)Gat>Aat	p.D238N	DSC2_ENST00000251081.6_Missense_Mutation_p.D238N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	238	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGGTAGTTATCATTTTCATCC	0.333000													12	33					0	0	0.001368	0	0
GPR162	27239	broad.mit.edu	37	12	6936244	6936244	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:6936244G>T	ENST00000311268.3	+	5	2429	c.1642G>T	c.(1642-1644)Gtt>Ttt	p.V548F	GPR162_ENST00000428545.2_Missense_Mutation_p.V264F|GPR162_ENST00000382315.3_Missense_Mutation_p.V244F	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	548						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GAGCAGAGCCGTTGGACTTCC	0.672000													47	27					1.47857e-17	2.27677e-17	0.003610	1	0
FGA	2243	broad.mit.edu	37	4	155508735	155508735	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:155508735C>T	ENST00000302053.3	-	4	517	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	FGA_ENST00000403106.3_Missense_Mutation_p.E147K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	147					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGTACTTTTTCTATGACTTTG	0.418000													19	41					0	0	0.008871	0	0
DPPA4	55211	broad.mit.edu	37	3	109047901	109047901	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:109047901G>A	ENST00000335658.6	-	6	768	c.714C>T	c.(712-714)ctC>ctT	p.L238L		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	238						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTCTGCAGGGAGACTTTTCC	0.517000													12	8					0	0	0.003163	0	0
EYA3	2140	broad.mit.edu	37	1	28354386	28354386	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:28354386G>T	ENST00000373871.3	-	7	653	c.413C>A	c.(412-414)tCt>tAt	p.S138Y	EYA3_ENST00000373864.1_Intron|EYA3_ENST00000436342.2_Missense_Mutation_p.S12Y|EYA3_ENST00000373863.3_Intron|EYA3_ENST00000540618.1_Intron|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.S85Y			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	138					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TTGACTTGGAGATGGAGTCTG	0.438000													40	60					6.7651e-33	1.04548e-32	0.003610	1	0
PIGS	94005	broad.mit.edu	37	17	26887112	26887112	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:26887112G>A	ENST00000308360.7	-	7	1149	c.774C>T	c.(772-774)ttC>ttT	p.F258F	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Silent_p.F197F|PIGS_ENST00000395346.2_Silent_p.F250F	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	258					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGGCATTCAGGAAAGGTTGCA	0.512000													22	21					0	0	0.001882	0	0
MMP3	4314	broad.mit.edu	37	11	102709901	102709901	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:102709901G>A	ENST00000299855.5	-	7	1265	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	337	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ACGCCTGAAGGAAGAGATGGC	0.363000													32	23					0	0	0.005524	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17362936	17362936	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:17362936G>A	ENST00000377602.4	-	8	1212	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	380					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TGAAGTTGGAGGATCTGGCTG	0.368000													55	84					0	0	0.003610	0	0
BCS1L	617	broad.mit.edu	37	2	219525914	219525914	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219525914C>T	ENST00000431802.1	+	2	903	c.204C>T	c.(202-204)acC>acT	p.T68T	BCS1L_ENST00000412366.1_Silent_p.T68T|BCS1L_ENST00000392111.2_Silent_p.T68T|BCS1L_ENST00000359273.3_Silent_p.T68T|BCS1L_ENST00000392110.2_Silent_p.T68T|BCS1L_ENST00000392109.1_Silent_p.T68T|BCS1L_ENST00000439945.1_Silent_p.T68T			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	68					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGCTCACCCGCCACAGTA	0.562000													25	65					0	0	0.004656	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817413	26817413	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:26817413G>A	ENST00000444914.3	+	3	740	c.320G>A	c.(319-321)gGg>gAg	p.G107E	SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CATAACCTCGGGGGCACCGTG	0.552000													35	23					0	0	0.006230	0	0
PTK2B	2185	broad.mit.edu	37	8	27308328	27308328	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:27308328G>A	ENST00000397501.1	+	30	3211	c.2403G>A	c.(2401-2403)aaG>aaA	p.K801K	PTK2B_ENST00000544172.1_Silent_p.K801K|PTK2B_ENST00000517339.1_Silent_p.K759K|PTK2B_ENST00000420218.2_Silent_p.K759K|PTK2B_ENST00000397497.4_Silent_p.K505K|PTK2B_ENST00000346049.5_Silent_p.K801K|PTK2B_ENST00000338238.4_Silent_p.K759K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	801	Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGGCTGAAAAGGTCAAAATGC	0.577000													6	20					0	0	0.003080	0	0
TBX20	57057	broad.mit.edu	37	7	35280521	35280521	+	Silent	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:35280521A>G	ENST00000408931.3	-	5	1309	c.783T>C	c.(781-783)ttT>ttC	p.F261F		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	261						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGACTGCCGTAAAAACTGTTT	0.403000													8	27					0	0	0.004482	0	0
PLEKHN1	84069	broad.mit.edu	37	1	908910	908910	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:908910G>A	ENST00000379409.2	+	12	1510	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.D442N|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.D407N			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	494										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GAGCAGCCCAGATGCCCCTGA	0.627000													39	32					0	0	0.002222	0	0
CCDC27	148870	broad.mit.edu	37	1	3673304	3673304	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:3673304C>T	ENST00000294600.2	+	4	645	c.561C>T	c.(559-561)ctC>ctT	p.L187L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	187										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CAGGGTACCTCCTTCCCTTCA	0.557000													46	52					0	0	0.003610	0	0
NR1H4	9971	broad.mit.edu	37	12	100897247	100897247	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:100897247G>A	ENST00000188403.7	+	1	110	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000392986.3_Intron|NR1H4_ENST00000551379.1_Missense_Mutation_p.E28K|NR1H4_ENST00000548884.1_Intron|NR1H4_ENST00000546380.1_Intron	NM_001206992.1|NM_001206993.1	NP_001193921.1|NP_001193922.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	28					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						ATTTTTCATGGAAATGATGAG	0.458000													5	19					0	0	0.000602	0	0
C16orf62	57020	broad.mit.edu	37	16	19648960	19648960	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:19648960C>T	ENST00000438132.3	+	20	1995	c.1947C>T	c.(1945-1947)ttC>ttT	p.F649F	C16orf62_ENST00000543152.1_Silent_p.F309F|C16orf62_ENST00000542263.1_Silent_p.F582F|C16orf62_ENST00000251143.5_Silent_p.F560F|C16orf62_ENST00000417362.2_Silent_p.F493F|C16orf62_ENST00000448695.1_Silent_p.F410F	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	560						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCCATGACTTCTCAGTTCTTT	0.289000													16	33					0	0	0.001882	0	0
ZNF208	7757	broad.mit.edu	37	19	22154256	22154256	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22154256C>T	ENST00000397126.4	-	4	3728	c.3580G>A	c.(3580-3582)Gag>Aag	p.E1194K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGAGTTTCTCTCCAGTATGA	0.373000													13	7					0	0	0.002450	0	0
RIMS1	22999	broad.mit.edu	37	6	72596824	72596824	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:72596824G>A	ENST00000264839.7	+	1	98	c.98G>A	c.(97-99)aGg>aAg	p.R33K	RIMS1_ENST00000517960.1_Missense_Mutation_p.R33K|RIMS1_ENST00000518273.1_Missense_Mutation_p.R33K|RIMS1_ENST00000520567.1_Missense_Mutation_p.R33K|RIMS1_ENST00000491071.2_Missense_Mutation_p.R33K|RIMS1_ENST00000521978.1_Missense_Mutation_p.R33K|RIMS1_ENST00000522291.1_Missense_Mutation_p.R33K|RIMS1_ENST00000348717.5_Missense_Mutation_p.R33K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	33	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAGAGGAGAGGAACATTATC	0.622000													10	8					0	0	0.006214	0	0
PDC	5132	broad.mit.edu	37	1	186415666	186415666	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:186415666C>T	ENST00000391997.2	-	3	192	c.105G>A	c.(103-105)gaG>gaA	p.E35E	PDC_ENST00000497198.1_5'UTR|PDC_ENST00000340129.5_Silent_p.E35E	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	35					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TGTCTTGACTCTCTAATTTAA	0.358000													8	32					0	0	0.004482	0	0
GALNT6	11226	broad.mit.edu	37	12	51754529	51754529	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:51754529C>T	ENST00000543196.2	-	6	1348	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G	GALNT6_ENST00000356317.3_Silent_p.G381G			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	381	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCACGTTCTCCCCTCCCCAGA	0.537000													45	37					0	0	0.003610	0	0
FEM1B	10116	broad.mit.edu	37	15	68582855	68582855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:68582855C>T	ENST00000306917.4	+	2	1774	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	387					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	p.R387*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGATCTTCTTCGATTTGCTCA	0.398000													8	37					0	0	0.003080	0	0
PLXDC2	84898	broad.mit.edu	37	10	20436754	20436754	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:20436754G>A	ENST00000377252.3	+	6	1547	c.706G>A	c.(706-708)Gat>Aat	p.D236N	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.D187N	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	236						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACATCTCCAGGATAATTATAA	0.413000													25	25					0	0	0.004656	0	0
OR2W1	26692	broad.mit.edu	37	6	29012445	29012445	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:29012445C>T	ENST00000377175.1	-	1	572	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATGTTGTTTCCACATGTGGGC	0.398000													20	58					0	0	0.001523	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526553	234526553	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:234526553G>A	ENST00000373450.4	+	1	263	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGCAACTGGGAAAATCACTG	0.502000													21	73					0	0	0.001882	0	0
CATSPERD	257062	broad.mit.edu	37	19	5733907	5733907	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:5733907C>T	ENST00000381624.3	+	5	378	c.317C>T	c.(316-318)tCg>tTg	p.S106L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	106						integral to membrane											TTTGCTGGTTCGTTATTGCTG	0.313000													19	7					0	0	0.002299	0	0
PRRC2B	84726	broad.mit.edu	37	9	134323085	134323085	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:134323085C>T	ENST00000357304.4	+	8	1069	c.1014C>T	c.(1012-1014)cgC>cgT	p.R338R	PRRC2B_ENST00000458550.1_Silent_p.R338R|PRRC2B_ENST00000405995.1_Silent_p.R338R|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	338							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCCACTCCGCCCACTAAGGC	0.507000													8	5					0	0	0.003080	0	0
LCT	3938	broad.mit.edu	37	2	136558221	136558221	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:136558221G>A	ENST00000264162.2	-	12	4832	c.4822C>T	c.(4822-4824)Ccc>Tcc	p.P1608S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1608	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)		TGGTTAGAGGGATCTCTGGGT	0.532000													8	39					0	0	0.003080	0	0
MAGI2	9863	broad.mit.edu	37	7	77756669	77756669	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:77756669C>T	ENST00000354212.4	-	19	3521	c.3268G>A	c.(3268-3270)Gac>Aac	p.D1090N	MAGI2_ENST00000419488.1_Missense_Mutation_p.D1076N|MAGI2_ENST00000522391.1_Missense_Mutation_p.D1090N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1090	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCCTGTAGTCTGTGAATGGA	0.537000													11	57					0	0	0.002450	0	0
USH2A	7399	broad.mit.edu	37	1	215901413	215901413	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:215901413G>A	ENST00000366943.2	-	61	12411	c.12025C>T	c.(12025-12027)Cct>Tct	p.P4009S	USH2A_ENST00000307340.3_Missense_Mutation_p.P4009S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4009	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTAAATGTAGGATCGTCGGGT	0.443000										HNSCC(13;0.011)			26	87					0	0	0.006320	0	0
SCN1A	6323	broad.mit.edu	37	2	166868727	166868727	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:166868727C>T	ENST00000423058.2	-	19	3788	c.3771G>A	c.(3769-3771)aaG>aaA	p.K1257K	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.K1229K|SCN1A_ENST00000375405.3_Silent_p.K1246K|SCN1A_ENST00000303395.4_Silent_p.K1257K|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1257						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGTGAAAACCTTGTCAGCAT	0.343000													5	6					0	0	0.000602	0	0
CARD11	84433	broad.mit.edu	37	7	2977616	2977616	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:2977616C>G	ENST00000396946.4	-	8	1471	c.1068G>C	c.(1066-1068)aaG>aaC	p.K356N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	356					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.K349K(1)|p.D350N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTTCACAGTCCTTTCCCAGGG	0.562000			Mis		DLBCL								23	49					0	0	0.001786	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887647	30887647	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:30887647C>T	ENST00000392772.2	-	11	1109	c.832G>A	c.(832-834)Gag>Aag	p.E278K	SEC14L4_ENST00000255858.7_Missense_Mutation_p.E332K|SEC14L4_ENST00000381982.3_Missense_Mutation_p.E332K|SEC14L4_ENST00000540456.1_Missense_Mutation_p.E317K			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	332	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TCCGTCATCTCCCTAGCACTC	0.607000													35	48					0	0	0.003755	0	0
DOK6	220164	broad.mit.edu	37	18	67266698	67266698	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:67266698C>T	ENST00000382713.5	+	3	443	c.253C>T	c.(253-255)Cac>Tac	p.H85Y	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	85	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AATCATCTTTCACGATGAAAC	0.418000													6	16					0	0	0.001168	0	0
SCML2	10389	broad.mit.edu	37	X	18342046	18342046	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:18342046G>A	ENST00000251900.4	-	5	489	c.330C>T	c.(328-330)gtC>gtT	p.V110V		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	110					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.V110V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTGGGGAATCGACAAGCCTCC	0.418000													36	16					0	0	0.008740	0	0
ADH1C	126	broad.mit.edu	37	4	100268973	100268973	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:100268973C>T	ENST00000515683.1	-	0	400				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTCTTTAACTCCCATAGCACA	0.403000													18	38					0	0	0.006122	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499405	150499405	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150499405G>A	ENST00000484928.1	+	3	858	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	TMEM176A_ENST00000461345.1_Missense_Mutation_p.G34R|TMEM176A_ENST00000004103.3_Missense_Mutation_p.G93R			Q96HP8	T176A_HUMAN	transmembrane protein 176A	93						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCTGGACAGGGGCTGTGGT	0.577000													7	24					0	0	0.003080	0	0
GPR110	266977	broad.mit.edu	37	6	46975030	46975030	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:46975030C>T	ENST00000371253.2	-	12	2707	c.2490_splice	c.e12-1	p.G831_splice	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Splice_Site_p.G634_splice	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	831					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GATAAAAAATCCCTTTAAAAA	0.333000													8	31					0	0	0.003080	0	0
PRR23B	389151	broad.mit.edu	37	3	138738801	138738801	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:138738801G>A	ENST00000329447.5	-	1	967	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	235	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGGAGAGGGAGGTAGAGGT	0.662000													24	11					0	0	0.003330	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852154	16852154	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:16852154G>A	ENST00000437538.2	-	2	213	c.205C>T	c.(205-207)Cca>Tca	p.P69S	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.P69S|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.P115S|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.P115S			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	115					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						AGCTCTGGTGGAAGGTTCACT	0.527000									IgA Deficiency, Selective				62	32					0	0	0.003610	0	0
OR10K2	391107	broad.mit.edu	37	1	158389889	158389889	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158389889G>A	ENST00000314902.2	-	1	767	c.768C>T	c.(766-768)tcC>tcT	p.S256S		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGTAGATAAAGGAGGCACAGC	0.428000													9	45					0	0	0.000978	0	0
ATG4A	115201	broad.mit.edu	37	X	107377369	107377369	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:107377369C>T	ENST00000372232.3	+	5	534	c.375C>T	c.(373-375)tgC>tgT	p.C125C	ATG4A_ENST00000345734.3_Silent_p.C125C|ATG4A_ENST00000545696.1_Silent_p.C48C|ATG4A_ENST00000372254.3_Silent_p.C101C	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	125					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AAGATTGTTGCTACTCTATCC	0.373000													17	10					0	0	0.007413	0	0
TECTA	7007	broad.mit.edu	37	11	120980156	120980156	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:120980156C>T	ENST00000392793.1	+	4	706	c.435C>T	c.(433-435)ttC>ttT	p.F145F	TECTA_ENST00000264037.2_Silent_p.F145F			O75443	TECTA_HUMAN	tectorin alpha	145	NIDO.				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)		CTTGGGTTTTCATTGTGACAT	0.438000													33	25					0	0	0.003755	0	0
AXDND1	126859	broad.mit.edu	37	1	179494553	179494553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:179494553C>T	ENST00000367618.3	+	22	2968	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	861	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TAGGAAACTTCAGGAGGAAAA	0.333000													7	30					0	0	0.003080	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578227	67578227	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:67578227G>C	ENST00000310421.4	-	1	1225	c.967C>G	c.(967-969)Cta>Gta	p.L323V		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	323	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGCCCAGGTAGAAAGGTGGCT	0.443000													32	27					0	0	0.002096	0	0
RABEP1	9135	broad.mit.edu	37	17	5212104	5212104	+	Silent	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:5212104T>C	ENST00000262477.6	+	2	374	c.150T>C	c.(148-150)taT>taC	p.Y50Y	RABEP1_ENST00000537505.1_Intron|RABEP1_ENST00000546142.2_Silent_p.Y50Y|RABEP1_ENST00000408982.2_Silent_p.Y50Y|RABEP1_ENST00000341923.6_Silent_p.Y50Y	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	50					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGGAGTTATATTTGGCTAAAG	0.343000													25	12					0	0	0.001786	0	0
PTPRT	11122	broad.mit.edu	37	20	40713401	40713401	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:40713401G>A	ENST00000373198.3	-	30	4358	c.4123C>T	c.(4123-4125)Ctg>Ttg	p.L1375L	PTPRT_ENST00000373187.1_Silent_p.L1353L|PTPRT_ENST00000373190.1_Silent_p.L1352L|PTPRT_ENST00000373193.3_Silent_p.L1356L|PTPRT_ENST00000373201.1_Silent_p.L1343L|PTPRT_ENST00000373184.1_Silent_p.L1363L|PTPRT_ENST00000356100.2_Silent_p.L1362L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1353	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACTTTGAGCAGAGAGCGCTTG	0.592000													10	41					0	0	0.006214	0	0
DPP4	1803	broad.mit.edu	37	2	162868390	162868390	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:162868390C>T	ENST00000360534.3	-	20	2305	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	582					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GTAACCACTTCCTCTGCCATC	0.443000													34	34					0	0	0.005524	0	0
ABCC6	368	broad.mit.edu	37	16	16263549	16263549	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:16263549C>T	ENST00000205557.7	-	22	2978	c.2949G>A	c.(2947-2949)caG>caA	p.Q983Q		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	983	ABC transmembrane type-1 2.				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)		GCAGGGCTGCCTGCGTCTGCT	0.667000													9	7					0	0	0.000978	0	0
MBL2	4153	broad.mit.edu	37	10	54530483	54530483	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:54530483G>A	ENST00000373968.3	-	2	315	c.251C>T	c.(250-252)cCt>cTt	p.P84L	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	84	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGACCCAGAAGGCCCTGGATT	0.547000													22	75					0	0	0.001882	0	0
PBX2	5089	broad.mit.edu	37	6	32155124	32155124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32155124C>A	ENST00000375050.4	-	6	1189	c.919G>T	c.(919-921)Gga>Tga	p.G307*		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	307							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TGGAACTTTCCGATGTTTTTC	0.547000													7	461					0.00307968	0.00468681	0.003080	1	0
SETD2	29072	broad.mit.edu	37	3	47164380	47164380	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:47164380G>A	ENST00000409792.3	-	3	1788	c.1746C>T	c.(1744-1746)atC>atT	p.I582I		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGACTGTTTGATTTCTTCAT	0.323000			"""N, F, S, Mis"""		clear cell renal carcinoma								23	10					0	0	0.001882	0	0
PNMA2	10687	broad.mit.edu	37	8	26366022	26366022	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:26366022C>T	ENST00000522362.2	-	3	1144	c.250G>A	c.(250-252)Gga>Aga	p.G84R		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	84					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		cccccctttccctggacctca	0.483000													6	47					0	0	0.001984	0	0
MIR369	442914	broad.mit.edu	37	14	101531992	101531992	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:101531992G>A	ENST00000362155.3	+	0	75					NR_029862.1																						ATACATGGTTGATCTTTTCTC	0.512000													23	19					0	0	0.002299	0	0
FBLN5	10516	broad.mit.edu	37	14	92343989	92343989	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:92343989C>G	ENST00000267620.10	-	11	1319	c.1150G>C	c.(1150-1152)Gac>Cac	p.D384H	FBLN5_ENST00000556154.1_Missense_Mutation_p.D348H|FBLN5_ENST00000342058.4_Missense_Mutation_p.D343H			Q9UBX5	FBLN5_HUMAN	fibulin 5	343					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AAGGGCTGGTCTCTGCAGCCA	0.562000													35	25					0	0	0.005524	0	0
WDR49	151790	broad.mit.edu	37	3	167254743	167254743	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:167254743G>A	ENST00000308378.3	-	7	1118	c.813C>T	c.(811-813)atC>atT	p.I271I	WDR49_ENST00000453925.2_Silent_p.I335I|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.I96I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	271										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTTCAGGCTGGATGAAAAATT	0.383000													7	27					0	0	0.001984	0	0
LCE3D	84648	broad.mit.edu	37	1	152552287	152552287	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152552287C>T	ENST00000368787.3	-	2	182	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	42					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGCCACAGCCCCCAGAGCTTG	0.662000													9	38					0	0	0.004482	0	0
SNX9	51429	broad.mit.edu	37	6	158318009	158318009	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:158318009C>T	ENST00000392185.3	+	5	622	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	151					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTTCGGCCACCCCCAGGCCTA	0.622000													10	11					0	0	0.008291	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146905	70146905	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:70146905G>A	ENST00000335568.5	+	1	689	c.687G>A	c.(685-687)atG>atA	p.M229I	UGT2B28_ENST00000511240.1_Missense_Mutation_p.M229I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	229					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TGTGTGATATGAAGAAGTGGG	0.318000													17	6					0	0	0.004990	0	0
UBAC2	337867	broad.mit.edu	37	13	100020071	100020071	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:100020071C>T	ENST00000376440.2	+	6	1236	c.733C>T	c.(733-735)Cct>Tct	p.P245S	UBAC2_ENST00000403766.3_Missense_Mutation_p.P280S|UBAC2_ENST00000460562.1_3'UTR	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	280						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCGTCTTTTTCCTCCTTTACG	0.448000													27	14					0	0	0.005443	0	0
ADAM20	8748	broad.mit.edu	37	14	70990607	70990607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:70990607G>A	ENST00000256389.3	-	2	1262	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	290	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGTTGTAGTCGATTATTAAGG	0.348000													22	9					0	0	0.001882	0	0
MED12	9968	broad.mit.edu	37	X	70356750	70356750	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:70356750C>T	ENST00000333646.6	+	38	5621	c.5422C>T	c.(5422-5424)Cgg>Tgg	p.R1808W	MED12_ENST00000374102.1_Missense_Mutation_p.R1808W|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_Missense_Mutation_p.R1808W	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1808	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGCCCGGGTCGGAGCGGCCC	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						15	10					0	0	0.003163	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760624	7760624	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:7760624G>A	ENST00000340209.4	+	13	1383		c.e13-1		RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						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						CTTTGTTTCAGAATGCTTTTG	0.403000													28	48					0	0	0.002096	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006401	16006401	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:16006401C>T	ENST00000221700.5	-	3	353	c.258G>A	c.(256-258)caG>caA	p.Q86Q	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	86					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTTAAAGCCCTGGGGGTAGG	0.562000													43	30					0	0	0.003610	0	0
CEP68	23177	broad.mit.edu	37	2	65299155	65299155	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:65299155C>T	ENST00000377990.2	+	3	1128	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	CEP68_ENST00000260569.4_Silent_p.L309L|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Silent_p.L309L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	309					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TACTTACCCACTGAGGCCCGG	0.572000													48	34					0	0	0.003610	0	0
SYT17	51760	broad.mit.edu	37	16	19278342	19278342	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:19278342C>T	ENST00000562034.1	+	6	4984	c.1186C>T	c.(1186-1188)Ctg>Ttg	p.L396L	SYT17_ENST00000568433.1_Silent_p.L151L|SYT17_ENST00000355377.2_Silent_p.L457L|SYT17_ENST00000562711.2_Silent_p.L453L			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	457	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GTGGCATAGCCTGAGGTCCCG	0.567000													4	22					0	0	0.000248	0	0
EPHB2	2048	broad.mit.edu	37	1	23233345	23233345	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:23233345C>T	ENST00000400191.3	+	11	2049	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	EPHB2_ENST00000374627.1_Silent_p.F672F|EPHB2_ENST00000374632.3_Silent_p.F678F|EPHB2_ENST00000374630.3_Silent_p.F677F	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	677	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGGGCCAGTTCGACCATCCCA	0.567000													5	25					0	0	0.000602	0	0
MSH2	4436	broad.mit.edu	37	2	47639606	47639606	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:47639606C>T	ENST00000406134.1	+	4	761	c.699C>T	c.(697-699)tcC>tcT	p.S233S	MSH2_ENST00000543555.1_Silent_p.S167S|MSH2_ENST00000233146.2_Silent_p.S233S			P43246	MSH2_HUMAN	mutS homolog 2	233					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGACTTTTCCACAAAAGACA	0.353000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				14	28					0	0	0.002450	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870036	151870036	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:151870036C>T	ENST00000329342.5	+	3	951	c.726C>T	c.(724-726)ccC>ccT	p.P242P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	242	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGGGATCCCAAGAAGCTGC	0.547000													72	49					0	0	0.003610	0	0
CD33	945	broad.mit.edu	37	19	51728536	51728536	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:51728536G>A	ENST00000262262.4	+	2	121	c.100G>A	c.(100-102)Ggt>Agt	p.G34S	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.G34S	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	34	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGTACAGGAGGGTTTGTGCGT	0.567000													31	15					0	0	0.002445	0	0
PTGIS	5740	broad.mit.edu	37	20	48166673	48166673	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:48166673G>A	ENST00000244043.4	-	2	157	c.128C>T	c.(127-129)gCc>gTc	p.A43V	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	43					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	AAAGTCCAAGGCATACCCCAA	0.557000													27	30					0	0	0.004656	0	0
FOLR4	390243	broad.mit.edu	37	11	94039753	94039753	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:94039753C>T	ENST00000440961.2	+	2	257	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	71						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TATCCCCACTCTACAACTTCA	0.547000													64	41					0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100443785	100443785	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:100443785C>T	ENST00000395996.1	+	22	3214	c.3103C>T	c.(3103-3105)Cct>Tct	p.P1035S	VPS13B_ENST00000357162.2_Missense_Mutation_p.P1035S|VPS13B_ENST00000358544.2_Missense_Mutation_p.P1035S			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1035					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGTCAGTTCCTGTTAAAGC	0.343000													24	39					0	0	0.007291	0	0
KRT72	140807	broad.mit.edu	37	12	52981534	52981534	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:52981534G>C	ENST00000293745.2	-	7	1276	c.1191C>G	c.(1189-1191)caC>caG	p.H397Q	KRT72_ENST00000537672.2_Missense_Mutation_p.H397Q|KRT72_ENST00000398066.3_Missense_Mutation_p.H209Q|KRT72_ENST00000354310.4_Missense_Mutation_p.H355Q	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	397	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCTTGGCCTGGTGCAGGGCGC	0.662000													10	42					0	0	0.000978	0	0
SAMHD1	25939	broad.mit.edu	37	20	35545216	35545216	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:35545216C>T	ENST00000262878.4	-	9	1170	c.971G>A	c.(970-972)gGa>gAa	p.G324E	SAMHD1_ENST00000373694.5_Missense_Mutation_p.G109E	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	324					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATTTTGGATTCCAAGATGATG	0.338000													93	128					0	0	0.003610	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571095	155571095	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:155571095A>C	ENST00000392845.2	-	1	1072	c.692T>G	c.(691-693)tTg>tGg	p.L231W	SLC33A1_ENST00000359479.3_Missense_Mutation_p.L231W|SLC33A1_ENST00000460729.1_5'UTR	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	231					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCAAAAACAAAACATTGCC	0.428000													8	45					0	0	0.004482	0	0
LRIT3	345193	broad.mit.edu	37	4	110791480	110791480	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:110791480G>A	ENST00000327908.3	+	4	1790	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	LRIT3_ENST00000409621.2_Silent_p.K342K|LRIT3_ENST00000594814.1_Silent_p.K525K|LRIT3_ENST00000379920.3_Silent_p.K480K			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	480	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ATGGTGGGAAGGACCTGCTGC	0.478000													40	57					0	0	0.003610	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907736	164907736	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:164907736T>A	ENST00000475390.1	-	2	1326	c.883A>T	c.(883-885)Att>Ttt	p.I295F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.I295F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	295						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAATGTGGAATTCCCAAACTA	0.453000										HNSCC(40;0.11)			15	58					0	0	0.003163	0	0
USP43	124739	broad.mit.edu	37	17	9615323	9615323	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:9615323C>T	ENST00000570827.2	+	14	2350	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	USP43_ENST00000285199.6_Missense_Mutation_p.R737W|USP43_ENST00000570475.1_Missense_Mutation_p.R732W			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	737					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CTGGCTCTTACGGCTCGGGAG	0.632000													12	6					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179479601	179479601	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179479601C>T	ENST00000589042.1	-	260	48957	c.48733G>A	c.(48733-48735)Gag>Aag	p.E16245K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E14604K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7180K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7305K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7372K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13677K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14604	Fibronectin type-III 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E13677K(2)|p.E7305K(1)|p.E7372K(1)|p.E7180K(1)		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)			TGGATTTCCTCTGTGGGTCTG	0.443000													4	2					0	0	0.000248	0	0
PCNXL2	80003	broad.mit.edu	37	1	233372670	233372670	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:233372670G>A	ENST00000258229.8	-	9	2513	c.2279C>T	c.(2278-2280)tCt>tTt	p.S760F	PCNXL2_ENST00000430153.1_Missense_Mutation_p.S59F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	760						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)				AGGGTCCCCAGAAGACGGATC	0.532000													42	33					0	0	0.007835	0	0
KCTD8	386617	broad.mit.edu	37	4	44450305	44450305	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:44450305G>A	ENST00000360029.3	-	1	519	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	79	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						gccgccACGGGGACTAGAGGG	0.647000										HNSCC(17;0.042)			9	8					0	0	0.006214	0	0
FMR1	2332	broad.mit.edu	37	X	147019652	147019652	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:147019652C>T	ENST00000370475.4	+	12	1288	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	FMR1_ENST00000370477.1_Intron|FMR1_ENST00000218200.8_Intron|FMR1_ENST00000370470.1_Missense_Mutation_p.S387F|FMR1_ENST00000440235.2_Intron|FMR1_ENST00000370471.3_Missense_Mutation_p.S387F|FMR1_ENST00000439526.2_Intron	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	387					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGGAATCCCAGAAACCT	0.383000									Fragile X syndrome				65	39					0	0	0.003610	0	0
C12orf50	160419	broad.mit.edu	37	12	88388520	88388520	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:88388520C>T	ENST00000298699.2	-	7	662	c.481_splice	c.e7-1	p.G161_splice	C12orf50_ENST00000550553.1_Splice_Site_p.G161_splice	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	161										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAGACTATCTCCTAGAAATAA	0.313000													7	28					0	0	0.001984	0	0
CARD11	84433	broad.mit.edu	37	7	2977617	2977617	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:2977617T>A	ENST00000396946.4	-	8	1470	c.1067A>T	c.(1066-1068)aAg>aTg	p.K356M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	356					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTCACAGTCCTTTCCCAGGGT	0.562000			Mis		DLBCL								22	49					0	0	0.002096	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965009	119965009	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:119965009C>T	ENST00000543831.1	+	4	1134	c.885C>T	c.(883-885)ttC>ttT	p.F295F	HSD3B2_ENST00000369416.3_Silent_p.F295F	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	295					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GGATTGGCTTCCTGCTGGAAG	0.458000													15	59					0	0	0.003163	0	0
C1QB	713	broad.mit.edu	37	1	22987852	22987852	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:22987852C>T	ENST00000509305.1	+	3	1075	c.729C>T	c.(727-729)ttC>ttT	p.F243F	C1QB_ENST00000314933.6_Silent_p.F245F			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	245	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTTCCGGGTTCCTGCTCTTTC	0.602000													11	34					0	0	0.001368	0	0
SAMD11	148398	broad.mit.edu	37	1	879473	879473	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:879473G>C	ENST00000342066.3	+	14	2069	c.1986G>C	c.(1984-1986)caG>caC	p.Q662H		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	662						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CACCCAAGCAGGAGAATGGGA	0.652000													9	64					0	0	0.004482	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104319	26104319	+	Silent	SNP	C	C	T	rs146396988		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:26104319C>T	ENST00000377803.2	+	1	216	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AGCGCATTTCCGGTCTTATCT	0.537000													18	54					0	0	0.001523	0	0
BBS4	585	broad.mit.edu	37	15	73023677	73023677	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:73023677C>A	ENST00000268057.4	+	11	784	c.743C>A	c.(742-744)aCc>aAc	p.T248N	BBS4_ENST00000542334.1_Missense_Mutation_p.T76N|BBS4_ENST00000395205.2_Missense_Mutation_p.T256N|BBS4_ENST00000539603.1_Missense_Mutation_p.T236N	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	248	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ATGATGCAGACCCACGGGGAC	0.488000									Bardet-Biedl syndrome				18	40					1.33834e-09	2.04924e-09	0.007413	1	0
SEPT14	346288	broad.mit.edu	37	7	55874937	55874937	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:55874937G>A	ENST00000388975.3	-	8	948	c.832C>T	c.(832-834)Cac>Tac	p.H278Y		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	278					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAGTCACAGTGATTTTCATTT	0.318000													16	57					0	0	0.007413	0	0
ALOX5	240	broad.mit.edu	37	10	45907676	45907676	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:45907676G>A	ENST00000374391.2	+	4	522	c.469G>A	c.(469-471)Gat>Aat	p.D157N	ALOX5_ENST00000542434.1_Missense_Mutation_p.D157N	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	157	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.D157N(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTTGAGCATCGATGCCAAATG	0.463000													17	42					0	0	0.008871	0	0
SEC22B	9554	broad.mit.edu	37	1	145109575	145109575	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:145109575C>T	ENST00000453618.1	+	0	564							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AAGCTGCCTTCCCTAAGACGT	0.433000													19	307					0	0	0.008871	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663604	44663604	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:44663604G>A	ENST00000454036.1	+	2	215	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	SLC12A5_ENST00000372315.1_Missense_Mutation_p.E24K|SLC12A5_ENST00000539566.1_Missense_Mutation_p.E24K|SLC12A5_ENST00000243964.3_Missense_Mutation_p.E24K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	47					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAACCCCAAGGAAAGCAGTCC	0.542000													11	119					0	0	0.000978	0	0
LHX5	64211	broad.mit.edu	37	12	113907000	113907000	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:113907000G>A	ENST00000261731.3	-	2	897	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	108	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TGTTCTCGTCGATGACGTAGA	0.572000													11	18					0	0	0.001368	0	0
OR7D2	162998	broad.mit.edu	37	19	9296535	9296535	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9296535C>T	ENST00000344248.2	+	1	257	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	26					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TACAGCCGTTCATATTTGGGC	0.493000													16	4					0	0	0.004007	0	0
OR4D6	219983	broad.mit.edu	37	11	59224811	59224811	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:59224811C>T	ENST00000300127.2	+	1	401	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACCTTGCAATCGCCAAGCCCC	0.498000													66	33					0	0	0.003610	0	0
TET2	54790	broad.mit.edu	37	4	106157143	106157143	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:106157143C>T	ENST00000513237.1	+	3	2904	c.2107C>T	c.(2107-2109)Cat>Tat	p.H703Y	TET2_ENST00000394764.1_Missense_Mutation_p.H682Y|TET2_ENST00000413648.2_Missense_Mutation_p.H682Y|TET2_ENST00000380013.4_Missense_Mutation_p.H682Y|TET2_ENST00000305737.2_Missense_Mutation_p.H682Y|TET2_ENST00000540549.1_Missense_Mutation_p.H682Y|TET2_ENST00000545826.1_Missense_Mutation_p.H682Y			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	682	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.H682fs*11(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACTAGATTTCATTTTCAACA	0.428000			"""Mis N, F"""		MDS								19	41					0	0	0.001523	0	0
DNAH10	196385	broad.mit.edu	37	12	124298405	124298405	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:124298405C>T	ENST00000409039.3	+	20	3397	c.3372C>T	c.(3370-3372)ctC>ctT	p.L1124L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1124	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCATGGAACTCAGATATAGGG	0.388000													4	31					0	0	0.000602	0	0
KDSR	2531	broad.mit.edu	37	18	61006117	61006117	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:61006117C>T	ENST00000406396.3	-	8	1085		c.e8-1		KDSR_ENST00000589592.1_Splice_Site|KDSR_ENST00000326575.5_Splice_Site	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase						3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						TCTCCAAAGGCTAAAAGTGGA	0.333000													8	16					0	0	0.008291	0	0
PTGDR	5729	broad.mit.edu	37	14	52735047	52735047	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:52735047G>A	ENST00000306051.2	+	1	617	c.515G>A	c.(514-516)gGg>gAg	p.G172E	PTGDR_ENST00000553372.1_Missense_Mutation_p.G172E	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	172						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	ATGGGCTTCGGGAAGTTCGTG	0.637000													37	21					0	0	0.003755	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548030	47548030	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:47548030G>A	ENST00000334194.3	+	4	392	c.389G>A	c.(388-390)gGt>gAt	p.G130D		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	130						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ACCCTGGATGGTTCTAAATGG	0.453000													21	20					0	0	0.001523	0	0
FAM179A	165186	broad.mit.edu	37	2	29259556	29259556	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:29259556C>T	ENST00000379558.4	+	18	2919	c.2568C>T	c.(2566-2568)ctC>ctT	p.L856L	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.L801L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	856							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGACAACCTCAACTCCAAGA	0.582000													11	15					0	0	0.003163	0	0
CFAP54	144535	broad.mit.edu	37	12	97078499	97078499	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:97078499C>T	ENST00000524981.3	+	8	1143	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F				Q6ZTY8	CL063_HUMAN		355										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTCTCATCTTCGCAGAAAAGA	0.323000													49	35					0	0	0.003610	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531816	6531816	+	Silent	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:6531816A>G	ENST00000361413.3	-	3	697	c.339T>C	c.(337-339)ttT>ttC	p.F113F	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	113						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TATGTTTTTCAAATTGTCTTC	0.428000													21	14					0	0	0.001882	0	0
PSME4	23198	broad.mit.edu	37	2	54101580	54101580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:54101580G>A	ENST00000404125.1	-	43	5051	c.4996C>T	c.(4996-4998)Cag>Tag	p.Q1666*	PSME4_ENST00000421748.2_Nonsense_Mutation_p.Q810*|PSME4_ENST00000476586.1_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1666					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACCATGGTCTGGAGGTAGGTC	0.378000													17	24					0	0	0.007413	0	0
MYOF	26509	broad.mit.edu	37	10	95079655	95079655	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:95079655C>T	ENST00000371501.4	-	49	5694	c.5572G>A	c.(5572-5574)Gaa>Aaa	p.E1858K	MYOF_ENST00000359263.4_Missense_Mutation_p.E1858K|MYOF_ENST00000358334.5_Missense_Mutation_p.E1845K|MYOF_ENST00000371502.4_Missense_Mutation_p.E1848K			Q9NZM1	MYOF_HUMAN	myoferlin	1858					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						CAGAGTTGTTCGGCTGGAAGG	0.423000													18	15					0	0	0.008871	0	0
MSN	4478	broad.mit.edu	37	X	64955140	64955140	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:64955140C>T	ENST00000360270.5	+	8	979	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	269	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						ACTTCGTCTTCTATGCTCCCC	0.502000			T	ALK	ALCL								9	3					0	0	0.006214	0	0
AOC1	26	broad.mit.edu	37	7	150558089	150558089	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150558089C>T	ENST00000493429.1	+	7	2632	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	AOC1_ENST00000360937.4_Missense_Mutation_p.P683L|AOC1_ENST00000467291.1_Missense_Mutation_p.P683L|AOC1_ENST00000416793.2_Missense_Mutation_p.P702L|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		GAGGACATTCCCAACACAGCC	0.622000													12	36					0	0	0.001855	0	0
ABAT	18	broad.mit.edu	37	16	8858602	8858602	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:8858602C>T	ENST00000396600.2	+	8	1393	c.455C>T	c.(454-456)cCc>cTc	p.P152L	ABAT_ENST00000569156.1_Missense_Mutation_p.P152L|ABAT_ENST00000567812.1_Missense_Mutation_p.P167L|ABAT_ENST00000268251.8_Missense_Mutation_p.P152L|ABAT_ENST00000425191.2_Missense_Mutation_p.P152L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	152					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAGGTGGCTCCCAAAGGGATG	0.592000													16	24					0	0	0.004007	0	0
DPP10	57628	broad.mit.edu	37	2	116447265	116447265	+	Silent	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:116447265T>A	ENST00000410059.1	+	6	924	c.444T>A	c.(442-444)atT>atA	p.I148I	DPP10_ENST00000409163.1_Silent_p.I98I|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Silent_p.I141I|DPP10_ENST00000393147.2_Silent_p.I152I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	148					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATTTCAGATTTTTCATTATT	0.264000													5	3					0	0	0.001984	0	0
CARD11	84433	broad.mit.edu	37	7	2977622	2977622	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:2977622C>T	ENST00000396946.4	-	8	1465	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	354					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGTCCTTTCCCAGGGTCGAGC	0.557000			Mis		DLBCL								25	53					0	0	0.003755	0	0
SDK1	221935	broad.mit.edu	37	7	4153707	4153707	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:4153707C>T	ENST00000404826.2	+	25	3763	c.3624C>T	c.(3622-3624)tcC>tcT	p.S1208S	SDK1_ENST00000389531.3_Silent_p.S1208S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1208	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCCCGAGTCCGTGGGCTACA	0.587000													25	19					0	0	0.002780	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26883501	26883501	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:26883501C>T	ENST00000374168.2	+	13	1148	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R316C|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R341C|RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R240C|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R240C|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R321C	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	332	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GCTATACCGTCGTGAGATCAA	0.597000													21	27					0	0	0.005443	0	0
NHLRC2	374354	broad.mit.edu	37	10	115636427	115636427	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:115636427C>T	ENST00000369301.3	+	3	691	c.479C>T	c.(478-480)tCc>tTc	p.S160F		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	160	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		CTAGAAGTTTCCTGCTGGCCA	0.393000													28	32					0	0	0.002445	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110495	7110495	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:7110495G>A	ENST00000306904.5	+	1	331	c.144G>A	c.(142-144)tcG>tcA	p.S48S		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	48	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAACAAGTCGAGGGGCTTCG	0.582000													9	1					0	0	0.006214	0	0
SLC6A13	6540	broad.mit.edu	37	12	344277	344277	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:344277G>A	ENST00000343164.4	-	7	862	c.810C>T	c.(808-810)ctC>ctT	p.L270L	SLC6A13_ENST00000445055.2_Silent_p.L178L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	270					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.L270L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAGACGCGTGAGGTTTGGGT	0.572000													28	18					0	0	0.008361	0	0
CCNY	219771	broad.mit.edu	37	10	35819114	35819114	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:35819114C>T	ENST00000374704.4	+	7	702	c.522C>T	c.(520-522)ttC>ttT	p.F174F	CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Silent_p.F120F|CCNY_ENST00000374706.1_Silent_p.F120F|CCNY_ENST00000339497.5_Silent_p.F149F	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	174	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTTACCGGTTCGTTCGGACAC	0.532000													6	35					0	0	0.001984	0	0
BPIFB3	359710	broad.mit.edu	37	20	31659974	31659974	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:31659974G>A	ENST00000375494.3	+	13	1324		c.e13+1			NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3						innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										AAGCTTAACGGTATGGCAGGT	0.517000													30	49					0	0	0.003755	0	0
PEX5L	51555	broad.mit.edu	37	3	179593207	179593207	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:179593207G>A	ENST00000467460.1	-	6	894	c.564C>T	c.(562-564)acC>acT	p.T188T	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000485199.1_Silent_p.T153T|PEX5L_ENST00000465751.1_Silent_p.T164T|PEX5L_ENST00000263962.8_Silent_p.T186T|PEX5L_ENST00000392649.3_Silent_p.T80T|PEX5L_ENST00000476138.1_Silent_p.T145T|PEX5L_ENST00000464614.1_Silent_p.T80T|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000472994.1_Silent_p.T129T|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	188					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GATGTCCCTTGGTATTTCGAT	0.423000													9	46					0	0	0.006214	0	0
NETO1	81832	broad.mit.edu	37	18	70417346	70417346	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:70417346C>T	ENST00000327305.6	-	9	2149	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	NETO1_ENST00000583169.1_Missense_Mutation_p.V498M|NETO1_ENST00000299430.2_Missense_Mutation_p.V497M	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	498					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTGGTCGGCACCTCTTCGATT	0.458000													13	20					0	0	0.002450	0	0
OR4D5	219875	broad.mit.edu	37	11	123810703	123810703	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:123810703C>T	ENST00000307033.2	+	1	454	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		ATTGCCATTTCCCAGCCCCTG	0.507000													37	25					0	0	0.006999	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847874	47847874	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:47847874C>T	ENST00000289672.2	-	52	7848	c.7798G>A	c.(7798-7800)Gac>Aac	p.D2600N	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2600					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGGTGAGGTCCATAAATGCT	0.517000													36	21					0	0	0.005524	0	0
KIAA1467	57613	broad.mit.edu	37	12	13215833	13215833	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:13215833C>G	ENST00000197268.8	+	5	896	c.776C>G	c.(775-777)gCc>gGc	p.A259G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	259						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		ACCTTGGCTGCCCCAGTTGTG	0.468000													7	75					0	0	0.004482	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101285	80101285	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:80101285C>T	ENST00000466387.1	+	10	1393	c.669C>T	c.(667-669)gcC>gcT	p.A223A	CTNNA2_ENST00000541047.1_Silent_p.A223A|CTNNA2_ENST00000402739.4_Silent_p.A223A|CTNNA2_ENST00000361291.4_Silent_p.A257A|CTNNA2_ENST00000540488.1_Silent_p.A223A|CTNNA2_ENST00000496558.1_Silent_p.A223A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	223					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGTACACGGCCTCTCAAGCAT	0.557000													15	20					0	0	0.004007	0	0
ROS1	6098	broad.mit.edu	37	6	117677936	117677936	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:117677936C>T	ENST00000368508.3	-	25	4195	c.3997G>A	c.(3997-3999)Gaa>Aaa	p.E1333K	ROS1_ENST00000368507.3_Missense_Mutation_p.E1328K|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1333					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AACTCAAATTCAGTCACATTA	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								19	16					0	0	0.008871	0	0
FLT1	2321	broad.mit.edu	37	13	29012444	29012444	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:29012444G>A	ENST00000282397.4	-	4	678	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FLT1_ENST00000539099.1_Missense_Mutation_p.P143S|FLT1_ENST00000541932.1_Missense_Mutation_p.P143S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	143					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATAATTTCGGGGATTTCACTG	0.373000													7	12					0	0	0.003080	0	0
LST3	0	broad.mit.edu	37	12	21242995	21242995	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:21242995C>G	ENST00000540229.1	+	16	2267	c.2202C>G	c.(2200-2202)ttC>ttG	p.F734L	RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.F626L|LST3_ENST00000381541.3_Missense_Mutation_p.F673L|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.F673L|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F734L																							ACTTAGAATTCTTAAACGACA	0.308000													9	23					0	0	0.004482	0	0
DYNAP	284254	broad.mit.edu	37	18	52262277	52262277	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:52262277G>A	ENST00000321600.1	+	2	289	c.243G>A	c.(241-243)gtG>gtA	p.V81V	DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1			dynactin associated protein																		GGGTCTGCGTGAACCCAGGAA	0.453000													23	53					0	0	0.005443	0	0
POTEF	728378	broad.mit.edu	37	2	130832282	130832282	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:130832282C>T	ENST00000357462.5	-	15	2856	c.2763G>A	c.(2761-2763)ctG>ctA	p.L921L	POTEF_ENST00000409914.2_Silent_p.L921L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	921	Actin-like.					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						GCTCGAAGTCCAGGGCAACAT	0.582000													13	30					0	0	0.001882	0	0
PABPN1	8106	broad.mit.edu	37	14	23793410	23793410	+	Missense_Mutation	SNP	C	C	T	rs143507010		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:23793410C>T	ENST00000397276.2	+	6	806	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	PABPN1_ENST00000216727.4_Missense_Mutation_p.R265C|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.R292C|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.R292C|PABPN1_ENST00000556821.1_Missense_Mutation_p.R137C|PABPN1_ENST00000557702.1_Missense_Mutation_p.R137C					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCCACGAGCCCGCTACCGCGC	0.547000													17	8					0	0	0.006122	0	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:3241350C>T	ENST00000217939.6	-	5	2530	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	792						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGATTTTTCCCACGGACTT	0.453000													35	21					0	0	0.004878	0	0
CNTN3	5067	broad.mit.edu	37	3	74315714	74315714	+	Silent	SNP	C	C	T	rs141145151		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:74315714C>T	ENST00000263665.6	-	21	2931	c.2904G>A	c.(2902-2904)gaG>gaA	p.E968E	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	968	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TAATGTAGTCCTCTTTAATGG	0.408000													55	28					0	0	0.003610	0	0
CRK	1398	broad.mit.edu	37	17	1340235	1340235	+	Silent	SNP	G	G	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:1340235G>C	ENST00000300574.2	-	2	596	c.456C>G	c.(454-456)ccC>ccG	p.P152P	CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Silent_p.P152P	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	152	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CTTTCTTAAAGGGAAGATCTT	0.522000													23	61					0	0	0.002299	0	0
STAB2	55576	broad.mit.edu	37	12	104109592	104109592	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:104109592G>A	ENST00000388887.2	+	43	4741		c.e43-1			NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2						angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTGTTTTAAAGAAATCAACCC	0.512000													4	34					0	0	0.000602	0	0
NLRP13	126204	broad.mit.edu	37	19	56410206	56410206	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56410206C>T	ENST00000588751.1	-	10	2911	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N	NLRP13_ENST00000342929.3_Missense_Mutation_p.D963N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	963							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCCTGAAGATCATTTTCTCCC	0.463000													43	16					0	0	0.002222	0	0
DOCK1	1793	broad.mit.edu	37	10	129183058	129183058	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:129183058C>T	ENST00000280333.6	+	38	3858	c.3749C>T	c.(3748-3750)tCg>tTg	p.S1250L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1250	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.S1250L(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCTTAGTGGTCGGAGGATGTG	0.622000													12	43					0	0	0.000978	0	0
KCNQ3	3786	broad.mit.edu	37	8	133198346	133198346	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:133198346G>A	ENST00000388996.4	-	2	889	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	KCNQ3_ENST00000519445.1_Silent_p.L157L|KCNQ3_ENST00000521134.1_Silent_p.L37L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	157					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACCAGTAACAGAAGCCAGTCT	0.507000													13	26					0	0	0.006122	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:17226675G>A	ENST00000253692.7	-	19	3442	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	TBC1D5_ENST00000429383.4_Missense_Mutation_p.S593F|TBC1D5_ENST00000429924.2_Missense_Mutation_p.S567F|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S615F	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	593						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGAAGGAAGGAAATTTGGGC	0.368000													23	23					0	0	0.003954	0	0
MYOC	4653	broad.mit.edu	37	1	171621369	171621369	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:171621369C>G	ENST00000037502.5	-	1	442	c.383G>C	c.(382-384)cGg>cCg	p.R128P		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	128					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGCTGGTCCCGCTCCCGCCT	0.612000													30	25					0	0	0.002445	0	0
NMUR1	10316	broad.mit.edu	37	2	232390102	232390102	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:232390102G>A	ENST00000305141.4	-	3	1066	c.933C>T	c.(931-933)gcC>gcT	p.A311A		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	311					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGTGGAACGGGGCCCAGCAGA	0.652000													14	12					0	0	0.001855	0	0
MYH8	4626	broad.mit.edu	37	17	10315965	10315965	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:10315965C>T	ENST00000403437.2	-	13	1322	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	410	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TACTCATTGCCAACCTTGACC	0.502000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				72	49					0	0	0.003610	0	0
SYBU	55638	broad.mit.edu	37	8	110588237	110588237	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:110588237C>T	ENST00000399066.3	-	6	1608	c.881G>A	c.(880-882)aGt>aAt	p.S294N	SYBU_ENST00000408889.3_Missense_Mutation_p.S178N|SYBU_ENST00000440310.1_Missense_Mutation_p.S297N|SYBU_ENST00000529690.1_Missense_Mutation_p.S167N|SYBU_ENST00000419099.1_Missense_Mutation_p.S296N|SYBU_ENST00000528647.1_Missense_Mutation_p.S296N|SYBU_ENST00000424158.2_Missense_Mutation_p.S302N|SYBU_ENST00000422135.1_Missense_Mutation_p.S297N|SYBU_ENST00000433638.1_Missense_Mutation_p.S297N|SYBU_ENST00000533065.1_Missense_Mutation_p.S178N|SYBU_ENST00000276646.9_Missense_Mutation_p.S297N|SYBU_ENST00000408908.2_Missense_Mutation_p.S297N|SYBU_ENST00000533171.1_Missense_Mutation_p.S297N|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000533895.1_Missense_Mutation_p.S296N|SYBU_ENST00000528331.1_Missense_Mutation_p.S178N|SYBU_ENST00000529175.1_Missense_Mutation_p.S91N|SYBU_ENST00000532779.1_Missense_Mutation_p.S229N|SYBU_ENST00000446070.2_Missense_Mutation_p.S296N	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	297	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CACGATTTCACTTTCCCTAGA	0.468000													5	18					0	0	0.000602	0	0
MYO5C	55930	broad.mit.edu	37	15	52534379	52534379	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:52534379C>T	ENST00000261839.7	-	20	2583	c.2422G>A	c.(2422-2424)Gct>Act	p.A808T	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	808	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTGCCCAAGCTTCTTTTAAG	0.483000													39	156					0	0	0.003214	0	0
FAT1	2195	broad.mit.edu	37	4	187542210	187542210	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:187542210G>A	ENST00000441802.2	-	10	5739	c.5530C>T	c.(5530-5532)Cac>Tac	p.H1844Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1844	Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACGGTAAAGTGAAAAATACTT	0.398000										HNSCC(5;0.00058)			10	20					0	0	0.008291	0	0
EIF2D	1939	broad.mit.edu	37	1	206773087	206773087	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:206773087C>T	ENST00000271764.2	-	9	1260	c.1052_splice	c.e9+1	p.R351_splice	EIF2D_ENST00000367114.3_Splice_Site_p.R227_splice	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	351					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTGCACTCACCTCGGGTGTTT	0.547000													14	40					0	0	0.004990	0	0
S100A9	6280	broad.mit.edu	37	1	153330861	153330861	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:153330861G>A	ENST00000368738.3	+	2	145	c.102G>A	c.(100-102)caG>caA	p.Q34Q		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	34	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTGAACCAGGGGGAATTCA	0.517000													15	17					0	0	0.002450	0	0
OTOF	9381	broad.mit.edu	37	2	26699831	26699831	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:26699831C>A	ENST00000272371.2	-	22	2730	c.2604G>T	c.(2602-2604)aaG>aaT	p.K868N	OTOF_ENST00000339598.3_Missense_Mutation_p.K121N|OTOF_ENST00000402415.3_Missense_Mutation_p.K178N|OTOF_ENST00000403946.3_Missense_Mutation_p.K868N|OTOF_ENST00000338581.6_Missense_Mutation_p.K121N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	868					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCAGGTCCTTGGAGGGCA	0.612000													12	9					0.000978159	0.00149316	0.000978	1	0
TLN2	83660	broad.mit.edu	37	15	63047733	63047733	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:63047733C>T	ENST00000561311.1	+	36	4709	c.4479C>T	c.(4477-4479)gtC>gtT	p.V1493V	TLN2_ENST00000306829.6_Silent_p.V1493V			Q9Y4G6	TLN2_HUMAN	talin 2	1493					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTTTGTAGGTCCTGTCAGCCG	0.587000													4	9					0	0	0.001168	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325845	79325845	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:79325845C>T	ENST00000428286.1	-	8	1468	c.268G>A	c.(268-270)Gac>Aac	p.D90N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D449N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	449					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACGGGGCTGTCGTCACTGAGG	0.602000													10	6					0	0	0.006214	0	0
C1orf173	127254	broad.mit.edu	37	1	75055476	75055476	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:75055476C>T	ENST00000326665.5	-	12	2233	c.2015G>A	c.(2014-2016)gGa>gAa	p.G672E	C1orf173_ENST00000420661.2_Missense_Mutation_p.G475E|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	672	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTCTCCGTTCCTTCTTTAAG	0.403000													40	48					0	0	0.002522	0	0
SETBP1	26040	broad.mit.edu	37	18	42281456	42281456	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:42281456C>T	ENST00000282030.5	+	2	441	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	SETBP1_ENST00000426838.4_Missense_Mutation_p.P49S	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	49						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAGGGGATCCCGGTGGGCGG	0.627000									Schinzel-Giedion syndrome				5	11					0	0	0.000602	0	0
HCK	3055	broad.mit.edu	37	20	30659560	30659560	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:30659560C>G	ENST00000534862.1	+	3	461	c.98C>G	c.(97-99)cCg>cGg	p.P33R	HCK_ENST00000375852.2_Missense_Mutation_p.P53R|HCK_ENST00000520553.1_Missense_Mutation_p.P32R|HCK_ENST00000538448.1_Missense_Mutation_p.P32R|HCK_ENST00000518730.1_Missense_Mutation_p.P32R|HCK_ENST00000375862.2_Missense_Mutation_p.P53R	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	53					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGTACGTGCCGGATCCCACA	0.577000													16	20					0	0	0.003163	0	0
CLIP2	7461	broad.mit.edu	37	7	73790813	73790813	+	Silent	SNP	G	G	A	rs149979075	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:73790813G>A	ENST00000223398.6	+	10	2409	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	CLIP2_ENST00000395060.1_Silent_p.E694E|CLIP2_ENST00000361545.5_Silent_p.E659E	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	694						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGGCCCAGGAGGAGCTGGCTG	0.682000													4	10					0	0	0.000602	0	0
DOCK1	1793	broad.mit.edu	37	10	129242485	129242485	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:129242485C>T	ENST00000280333.6	+	50	5401	c.5292C>T	c.(5290-5292)tcC>tcT	p.S1764S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1764					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CACCGTCCTCCCAGCAAACAC	0.577000													3	10					0	0	0.000248	0	0
C7orf63	79846	broad.mit.edu	37	7	89937106	89937106	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:89937106G>A	ENST00000389297.4	+	21	2739	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	C7orf63_ENST00000497910.1_Missense_Mutation_p.E812K|C7orf63_ENST00000316089.8_Missense_Mutation_p.E784K	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	830							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAAGCAAAGAGAGCTGGCTAA	0.328000													15	10					0	0	0.007413	0	0
PDE1A	5136	broad.mit.edu	37	2	183070750	183070750	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:183070750C>T	ENST00000435564.1	-	8	1067	c.867G>A	c.(865-867)gaG>gaA	p.E289E	PDE1A_ENST00000331935.6_Silent_p.E289E|PDE1A_ENST00000351439.5_Silent_p.E273E|PDE1A_ENST00000536095.1_Silent_p.E185E|PDE1A_ENST00000358139.2_Silent_p.E289E|PDE1A_ENST00000409365.1_Silent_p.E273E|PDE1A_ENST00000410103.1_Silent_p.E289E|PDE1A_ENST00000456212.1_Silent_p.E289E|PDE1A_ENST00000346717.4_Silent_p.E255E	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	289	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CGTGGTGATTCTCAAGGACAG	0.358000													10	9					0	0	0.006214	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831449	131831449	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:131831449G>A	ENST00000359827.3	-	28	5837	c.4875C>T	c.(4873-4875)atC>atT	p.I1625I	PLXNA4_ENST00000321063.4_Silent_p.I1625I			Q9HCM2	PLXA4_HUMAN	plexin A4	1625						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGTGTACCGGATCATGTTTT	0.577000													78	57					0	0	0.003610	0	0
OXR1	55074	broad.mit.edu	37	8	107722882	107722882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:107722882C>T	ENST00000445937.1	+	10	1918	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	OXR1_ENST00000517566.2_Nonsense_Mutation_p.R553*|OXR1_ENST00000531443.1_Nonsense_Mutation_p.R553*|OXR1_ENST00000312046.6_Nonsense_Mutation_p.R546*|OXR1_ENST00000452423.2_Nonsense_Mutation_p.R43*|OXR1_ENST00000442977.2_Nonsense_Mutation_p.R554*	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	554					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GCAAAGGCATCGATTACATAA	0.358000													4	22					0	0	0.000602	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882776	228882776	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:228882776C>T	ENST00000392056.3	-	7	2840	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E932K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	932	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGCTAATTCTTCCGCAAAG	0.478000													26	71					0	0	0.004656	0	0
TNR	7143	broad.mit.edu	37	1	175375474	175375474	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:175375474G>A	ENST00000367674.1	-	3	1085	c.377C>T	c.(376-378)cCa>cTa	p.P126L	TNR_ENST00000263525.2_Missense_Mutation_p.P126L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	126					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTGGCACATGGACAGGCCTT	0.592000													25	35					0	0	0.005443	0	0
SLC16A9	220963	broad.mit.edu	37	10	61432607	61432607	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:61432607G>A	ENST00000395348.3	-	3	897	c.261C>T	c.(259-261)ttC>ttT	p.F87F	SLC16A9_ENST00000395347.1_Silent_p.F87F	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	87					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGCCACCATGAAGCCACTGA	0.418000													5	16					0	0	0.000602	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229822	87229822	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:87229822G>A	ENST00000297524.3	-	3	1159	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	SLC7A13_ENST00000419776.2_Silent_p.I343I	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	352						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GACTTGTTAAGATAATTGCAA	0.358000													42	36					0	0	0.008740	0	0
SLC15A3	51296	broad.mit.edu	37	11	60714147	60714147	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:60714147G>A	ENST00000227880.3	-	2	938	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	235					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGCCCACACAGCCCACAGGGA	0.562000													70	26					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55538985	55538985	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:55538985G>A	ENST00000220676.1	+	4	2691	c.2543G>A	c.(2542-2544)aGa>aAa	p.R848K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	848					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGTATTTGAGAGGAATGGCA	0.348000													13	20					0	0	0.001855	0	0
FMO4	2329	broad.mit.edu	37	1	171292163	171292163	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:171292163G>A	ENST00000367749.3	+	4	483	c.153G>A	c.(151-153)atG>atA	p.M51I		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	51					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAGATGGGATGACCAGGGTCT	0.423000													23	20					0	0	0.003330	0	0
NKAIN2	154215	broad.mit.edu	37	6	125112496	125112496	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:125112496C>T	ENST00000368417.1	+	5	546	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NKAIN2_ENST00000546092.1_Silent_p.F95F|NKAIN2_ENST00000545433.1_Silent_p.F147F	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	162						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TGGCAGGTTTCATCTACGCCT	0.403000													13	9					0	0	0.003163	0	0
KCNH2	3757	broad.mit.edu	37	7	150644749	150644749	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150644749C>T	ENST00000392968.2	-	10	3742	c.2622G>A	c.(2620-2622)ggG>ggA	p.G874G	KCNH2_ENST00000330883.4_Silent_p.G630G|KCNH2_ENST00000262186.5_Silent_p.G970G			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	970					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCAGGGGCTCCCCACCCGGCG	0.731000													11	8					0	0	0.008291	0	0
FCRL5	83416	broad.mit.edu	37	1	157514089	157514089	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:157514089G>A	ENST00000361835.3	-	5	964	c.807C>T	c.(805-807)gtC>gtT	p.V269V	FCRL5_ENST00000356953.4_Silent_p.V269V|FCRL5_ENST00000368189.3_Silent_p.V269V|FCRL5_ENST00000368190.3_Silent_p.V269V|FCRL5_ENST00000368191.3_Silent_p.V184V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	269	Ig-like C2-type 2.		V -> I (in dbSNP:rs12036228).			integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTCAGATATGACGCTGTAAG	0.507000													36	123					0	0	0.003214	0	0
CREBBP	1387	broad.mit.edu	37	16	3820669	3820669	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:3820669G>A	ENST00000262367.5	-	14	3591	c.2782C>T	c.(2782-2784)Ccg>Tcg	p.P928S	CREBBP_ENST00000382070.3_Missense_Mutation_p.P890S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	928					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGGCTGCGGGGTCACCTGG	0.672000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						57	48					0	0	0.003610	0	0
IL22	50616	broad.mit.edu	37	12	68645343	68645343	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:68645343C>T	ENST00000538666.1	-	5	482	c.412G>A	c.(412-414)Gac>Aac	p.D138N	IL22_ENST00000328087.4_Missense_Mutation_p.D138N			Q9GZX6	IL22_HUMAN	interleukin 22	138					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ATATGCAGGTCATCACCTTCA	0.388000													27	33					0	0	0.002096	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135112	32135112	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:32135112C>T	ENST00000312561.4	+	4	1637	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAGAAGTTTTCAGAACTTGCA	0.318000													46	111					0	0	0.003610	0	0
MUC4	4585	broad.mit.edu	37	3	195516076	195516076	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:195516076G>A	ENST00000463781.3	-	2	2834	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S792F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	797					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)		TGACCCTGAGGAGGCCGGTTC	0.607000													31	36					0	0	0.002096	0	0
DNAH5	1767	broad.mit.edu	37	5	13793757	13793757	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:13793757G>A	ENST00000265104.4	-	49	8195	c.8091C>T	c.(8089-8091)atC>atT	p.I2697I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2697	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGATGTCCACGATGCTGGTGA	0.448000									Kartagener syndrome				41	28					0	0	0.003610	0	0
KCNG1	3755	broad.mit.edu	37	20	49626147	49626147	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:49626147G>A	ENST00000371571.4	-	2	1014	c.729C>T	c.(727-729)aaC>aaT	p.N243N	KCNG1_ENST00000396017.3_Silent_p.N243N|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	243						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGACGGAGAGGTTGACGGCGG	0.682000													6	13					0	0	0.003080	0	0
LTBP1	4052	broad.mit.edu	37	2	33622339	33622339	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:33622339G>A	ENST00000404816.2	+	33	5327	c.4974G>A	c.(4972-4974)atG>atA	p.M1658I	LTBP1_ENST00000272273.5_Missense_Mutation_p.M556I|LTBP1_ENST00000407925.1_Missense_Mutation_p.M1332I|LTBP1_ENST00000404525.1_Missense_Mutation_p.M1279I|LTBP1_ENST00000418533.2_Missense_Mutation_p.M1290I|LTBP1_ENST00000402934.1_Missense_Mutation_p.M1277I|LTBP1_ENST00000354476.3_Missense_Mutation_p.M1659I|LTBP1_ENST00000390003.4_Missense_Mutation_p.M1333I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1658					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGGCCAAGATGACCTGTGTCG	0.453000													9	62					0	0	0.006214	0	0
ATAD2	29028	broad.mit.edu	37	8	124371509	124371509	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:124371509G>A	ENST00000287394.5	-	11	1441	c.1334C>T	c.(1333-1335)cCa>cTa	p.P445L	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATAAAGTAATGGAAACACCAC	0.323000													46	54					0	0	0.003610	0	0
H6PD	9563	broad.mit.edu	37	1	9323951	9323951	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:9323951C>T	ENST00000377403.2	+	5	1701	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	H6PD_ENST00000602477.1_Missense_Mutation_p.H478Y	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	467	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCATATCTTCCATGGCCGGAA	0.602000													75	59					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	8996474	8996474	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:8996474C>T	ENST00000397910.4	-	61	41301	c.41098G>A	c.(41098-41100)Gcc>Acc	p.A13700T	MUC16_ENST00000380951.5_Missense_Mutation_p.A341T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13702	SEA 11.			Missing (in Ref. 3; AAK74120).	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						ACTCCAGTGGCTGTCCCATCC	0.547000													12	13					0	0	0.001855	0	0
FAM83D	81610	broad.mit.edu	37	20	37570694	37570694	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:37570694C>T	ENST00000217429.4	+	2	707	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	192					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CTGTGTATATCCTTCTGGACC	0.448000													47	81					0	0	0.003610	0	0
C4A	720	broad.mit.edu	37	6	31962466	31962466	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31962466C>T	ENST00000428956.2	+	21	2868	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	C4A_ENST00000498271.1_Silent_p.S928S	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		ATGCGGTGTCCAAGGTTCTGC	0.617000													7	44					0	0	0.000978	0	0
TGM2	7052	broad.mit.edu	37	20	36766765	36766765	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:36766765G>A	ENST00000361475.2	-	10	1538	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	TGM2_ENST00000536701.1_Silent_p.A374A|TGM2_ENST00000536724.1_Silent_p.A395A	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	455					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCCTTGTGAAGGCCTCCCTCT	0.582000													88	64					0	0	0.003610	0	0
TRPM2	7226	broad.mit.edu	37	21	45821572	45821572	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:45821572G>A	ENST00000397928.1	+	16	2775	c.2330G>A	c.(2329-2331)aGg>aAg	p.R777K	TRPM2_ENST00000397932.2_Missense_Mutation_p.R777K|TRPM2_ENST00000300481.9_Missense_Mutation_p.R757K|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.R777K	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	777						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGGAGAAGAGGCTGCAGGAT	0.672000													25	19					0	0	0.003330	0	0
ESPNL	339768	broad.mit.edu	37	2	239039003	239039003	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:239039003G>A	ENST00000343063.3	+	9	1911	c.1648G>A	c.(1648-1650)Gtc>Atc	p.V550I	ESPNL_ENST00000409169.1_Missense_Mutation_p.V506I|ESPNL_ENST00000409506.1_Missense_Mutation_p.V182I|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	550										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CAGCATCACGGTCAACAGCCA	0.697000													6	13					0	0	0.003080	0	0
C8B	732	broad.mit.edu	37	1	57395138	57395138	+	Missense_Mutation	SNP	G	G	A	rs140422613		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:57395138G>A	ENST00000543257.1	-	13	2125	c.1559C>T	c.(1558-1560)cCt>cTt	p.P520L	C8B_ENST00000535057.1_Missense_Mutation_p.P510L|C8B_ENST00000371237.4_Missense_Mutation_p.P572L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	572	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATTTTGAGGAGGTGGATTGTT	0.483000													8	25					0	0	0.006214	0	0
MTBP	27085	broad.mit.edu	37	8	121471542	121471542	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:121471542C>T	ENST00000305949.1	+	8	880	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	279					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTGACTTCCTTGCCAAAAA	0.294000													16	32					0	0	0.004007	0	0
HDAC8	55869	broad.mit.edu	37	X	71787749	71787749	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:71787749G>A	ENST00000439122.2	-	4	713	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.H143Y|HDAC8_ENST00000373560.2_Missense_Mutation_p.H143Y|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373556.3_Missense_Mutation_p.H143Y|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.H143Y|HDAC8_ENST00000373573.3_Missense_Mutation_p.H143Y|HDAC8_ENST00000373561.4_Missense_Mutation_p.H143Y	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	143	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTCTTTGCATGATGCCACCCT	0.418000													38	18					0	0	0.006999	0	0
SVEP1	79987	broad.mit.edu	37	9	113276344	113276344	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:113276344C>T	ENST00000401783.2	-	4	1343	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	SVEP1_ENST00000374461.1_Missense_Mutation_p.G313E|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G336E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G313E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	336					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGCTGATTCCTCCTGGTGA	0.522000													10	3					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179433511	179433511	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179433511C>T	ENST00000589042.1	-	326	77572	c.77348G>A	c.(77347-77349)cGg>cAg	p.R25783Q	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24142Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16718Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16843Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16910Q|TTN_ENST00000342992.6_Missense_Mutation_p.R23215Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24142	Fibronectin type-III 87.						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)			TGCAAGGGACCGAGGATCACT	0.413000													14	21					0	0	0.004990	0	0
MYCL	4610	broad.mit.edu	37	1	40363564	40363564	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:40363564C>T	ENST00000397332.2	-	3	789	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000372816.2_Missense_Mutation_p.R192Q	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		GGGGTCTGCTCGCACCGTGAT	0.507000													47	37					0	0	0.003610	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24646006	24646006	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:24646006G>A	ENST00000376862.3	+	4	1276	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	215					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GGCCAAGGGGGACTTGCACCA	0.592000													41	91					0	0	0.003610	0	0
HTRA3	94031	broad.mit.edu	37	4	8304194	8304194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:8304194G>A	ENST00000307358.2	+	7	1260	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	352					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TTCCAGACTGGAAGAAGCGCT	0.582000													21	35					0	0	0.004656	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098951	220098951	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:220098951G>A	ENST00000323348.5	+	9	1319	c.1145G>A	c.(1144-1146)aGa>aAa	p.R382K	ANKZF1_ENST00000410034.3_Missense_Mutation_p.R382K|ANKZF1_ENST00000409849.1_Missense_Mutation_p.R172K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	382						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAAATAAGAAAGATCTGC	0.473000													13	52					0	0	0.002450	0	0
XIRP1	165904	broad.mit.edu	37	3	39226013	39226013	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:39226013G>A	ENST00000340369.3	-	2	5152	c.4924C>T	c.(4924-4926)Cct>Tct	p.P1642S	XIRP1_ENST00000421646.1_Missense_Mutation_p.P325S|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1642							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGTGGAAGGGGCAGTTGAG	0.522000													20	19					0	0	0.001523	0	0
KRT73	319101	broad.mit.edu	37	12	53011970	53011970	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:53011970G>A	ENST00000305748.3	-	1	373	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	113	Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGGTGCCAGGAGGCTCTTGT	0.597000													23	64					0	0	0.003954	0	0
PCLO	27445	broad.mit.edu	37	7	82545811	82545811	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:82545811G>A	ENST00000423517.2	-	7	11828	c.11491C>T	c.(11491-11493)Cgt>Tgt	p.R3831C	PCLO_ENST00000333891.8_Missense_Mutation_p.R3831C|PCLO_ENST00000437081.1_Missense_Mutation_p.R551C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3762	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3831C(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTAATCACGATCCTCAGCT	0.473000													53	28					0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219903208	219903208	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219903208C>T	ENST00000341552.5	-	4	329	c.246G>A	c.(244-246)agG>agA	p.R82R	CCDC108_ENST00000409865.3_Silent_p.R71R|CCDC108_ENST00000324264.6_Silent_p.R17R|CCDC108_ENST00000295729.2_Silent_p.R17R|CCDC108_ENST00000410037.1_Silent_p.R17R|CCDC108_ENST00000453220.1_Silent_p.R82R|CCDC108_ENST00000441968.1_Silent_p.R82R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	82						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGTGTGGTTCCTGCTGTTCC	0.592000													20	11					0	0	0.002780	0	0
EYA1	2138	broad.mit.edu	37	8	72211355	72211355	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:72211355G>A	ENST00000340726.3	-	9	1392	c.753C>T	c.(751-753)tcC>tcT	p.S251S	EYA1_ENST00000388742.4_Silent_p.S251S|EYA1_ENST00000388743.2_Silent_p.S250S|EYA1_ENST00000388740.3_Silent_p.S218S|EYA1_ENST00000303824.7_Silent_p.S245S|EYA1_ENST00000419131.1_Silent_p.S246S|EYA1_ENST00000388741.2_Silent_p.S217S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	251					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGGCATTGGTGGATGGTGTCG	0.483000													22	52					0	0	0.003330	0	0
TEX30	93081	broad.mit.edu	37	13	103418798	103418798	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:103418798A>T	ENST00000376019.1	-	4	1350	c.514T>A	c.(514-516)Ttg>Atg	p.L172M	TEX30_ENST00000376029.3_3'UTR|TEX30_ENST00000376027.1_3'UTR|TEX30_ENST00000376022.1_3'UTR|TEX30_ENST00000376021.4_Missense_Mutation_p.L172M|TEX30_ENST00000376032.4_Missense_Mutation_p.L213M			Q5JUR7	CM027_HUMAN	testis expressed 30	213										lung(1)|urinary_tract(1)	2						ATCCAAAACAAAATCTGTGTA	0.343000													10	7					0	0	0.006214	0	0
RP1L1	94137	broad.mit.edu	37	8	10469796	10469796	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:10469796C>T	ENST00000382483.3	-	4	2035	c.1812G>A	c.(1810-1812)gcG>gcA	p.A604A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	604					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)		TTGTCACAGCCGCTCCCGTGG	0.632000													32	34					0	0	0.002836	0	0
RGL1	23179	broad.mit.edu	37	1	183835180	183835180	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:183835180C>T	ENST00000304685.3	+	5	964	c.503C>T	c.(502-504)tCa>tTa	p.S168L	RGL1_ENST00000360851.3_Missense_Mutation_p.S133L|RGL1_ENST00000367531.1_Missense_Mutation_p.S168L|RGL1_ENST00000536277.1_Missense_Mutation_p.S131L|RGL1_ENST00000539189.1_Missense_Mutation_p.S133L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	133	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGCCAAAGTTCATCAGAGTCC	0.388000													11	31					0	0	0.001368	0	0
BAI2	576	broad.mit.edu	37	1	32205771	32205771	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:32205771G>A	ENST00000373658.3	-	13	2339	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	BAI2_ENST00000398547.1_Silent_p.F599F|BAI2_ENST00000398556.3_Silent_p.F614F|BAI2_ENST00000440175.2_Silent_p.F308F|BAI2_ENST00000398542.1_Silent_p.F599F|BAI2_ENST00000373655.2_Silent_p.F666F|BAI2_ENST00000398538.1_Silent_p.F654F|BAI2_ENST00000257070.4_Silent_p.F666F|BAI2_ENST00000527361.1_Silent_p.F666F	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	666					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCACCACCTGGAAGAAGCGCT	0.612000													13	31					0	0	0.001855	0	0
LCE1C	353133	broad.mit.edu	37	1	152777809	152777809	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152777809C>T	ENST00000368768.1	-	2	196	c.146G>A	c.(145-147)gGa>gAa	p.G49E	LCE1C_ENST00000607093.1_Missense_Mutation_p.G49E	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	49	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAGCAGCCTCCGGAGCTGAC	0.662000													13	42					0	0	0.004007	0	0
UTRN	7402	broad.mit.edu	37	6	144843240	144843240	+	Missense_Mutation	SNP	C	C	T	rs144099534		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:144843240C>T	ENST00000367545.3	+	39	5666	c.5666C>T	c.(5665-5667)tCg>tTg	p.S1889L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1889					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTTGAATTATCGCTTAATGTT	0.393000													53	26					0	0	0.003610	0	0
ISM2	145501	broad.mit.edu	37	14	77948869	77948869	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:77948869C>T	ENST00000393684.3	-	5	896	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	ISM2_ENST00000429906.1_Missense_Mutation_p.E176K|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000412904.1_Missense_Mutation_p.E176K|ISM2_ENST00000342219.4_Missense_Mutation_p.E257K			Q6H9L7	ISM2_HUMAN	isthmin 2	257						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CTGTCTTTTTCCTCTCCTTTG	0.577000													40	18					0	0	0.005524	0	0
DNAH8	1769	broad.mit.edu	37	6	38743720	38743720	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:38743720G>C	ENST00000359357.3	+	11	1558	c.1304G>C	c.(1303-1305)gGt>gCt	p.G435A	DNAH8_ENST00000449981.2_Missense_Mutation_p.G652A|DNAH8_ENST00000441566.1_Missense_Mutation_p.G435A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAATCAATGGTTTAGAGGTA	0.308000													27	189					0	0	0.005443	0	0
CD101	9398	broad.mit.edu	37	1	117560035	117560035	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:117560035C>T	ENST00000256652.4	+	5	1610	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	CD101_ENST00000369470.1_Missense_Mutation_p.R518W	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	518	Ig-like C2-type 4.		R -> Q (in dbSNP:rs17235766).		cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAGAAGTCTCGGAACCAGGC	0.483000													24	24					0	0	0.003330	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984142	223984142	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:223984142G>A	ENST00000391878.2	-	14	2480	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L	TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.P700L|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	694					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GAGTGGCCGAGGAATTCTTTC	0.448000													45	56					0	0	0.003610	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835203	12835203	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:12835203C>T	ENST00000357726.4	+	1	220	c.193C>T	c.(193-195)Cct>Tct	p.P65S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	65								p.P65S(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGCCTTCCTCTAGGGTC	0.577000													38	25					0	0	0.004878	0	0
PSKH2	85481	broad.mit.edu	37	8	87081804	87081804	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:87081804C>T	ENST00000276616.2	-	1	122	c.48G>A	c.(46-48)ctG>ctA	p.L16L	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	16							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TGGCCCAAGCCAGCGCTGGTG	0.741000													14	8					0	0	0.004007	0	0
SORL1	6653	broad.mit.edu	37	11	121498459	121498459	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:121498459C>T	ENST00000260197.7	+	47	6689	c.6560C>T	c.(6559-6561)tCc>tTc	p.S2187F	SORL1_ENST00000534286.1_Missense_Mutation_p.S1097F|SORL1_ENST00000532694.1_Missense_Mutation_p.S1033F|SORL1_ENST00000525532.1_Missense_Mutation_p.S1131F|SORL1_ENST00000527934.1_Missense_Mutation_p.S802F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2187					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCAATCTTCTCCTCTGGGGAT	0.602000													16	7					0	0	0.006122	0	0
ZNF460	10794	broad.mit.edu	37	19	57802418	57802418	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:57802418C>T	ENST00000360338.3	+	3	831	c.509C>T	c.(508-510)tCc>tTc	p.S170F	ZNF460_ENST00000537645.1_Missense_Mutation_p.S129F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGGAAAATTCCTATAAATTC	0.408000													42	15					0	0	0.008740	0	0
CUBN	8029	broad.mit.edu	37	10	17157520	17157520	+	Missense_Mutation	SNP	G	G	C	rs143120669	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:17157520G>C	ENST00000377833.4	-	7	735	c.670C>G	c.(670-672)Cgc>Ggc	p.R224G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	224					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R224C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGACACAGCGTGCCACAGAA	0.532000													24	21					0	0	0.002780	0	0
NEB	4703	broad.mit.edu	37	2	152541387	152541387	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:152541387C>T	ENST00000427231.2	-	28	2942	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	NEB_ENST00000604864.1_Missense_Mutation_p.D914N|NEB_ENST00000409198.1_Missense_Mutation_p.D914N|NEB_ENST00000397345.3_Missense_Mutation_p.D914N|NEB_ENST00000603639.1_Missense_Mutation_p.D914N|NEB_ENST00000172853.10_Missense_Mutation_p.D914N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	914					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAATCAACGTCGCTGGCAATT	0.443000													17	8					0	0	0.004990	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976149	120976149	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:120976149G>A	ENST00000273666.6	+	17	2072	c.1801G>A	c.(1801-1803)Gga>Aga	p.G601R	STXBP5L_ENST00000497029.1_Missense_Mutation_p.G601R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G601R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G601R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G601R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	601					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGCTAGTGAAGGAGTAACAAA	0.398000													19	25					0	0	0.002780	0	0
DLL4	54567	broad.mit.edu	37	15	41223949	41223949	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:41223949G>A	ENST00000249749.5	+	4	919	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	215	DSL.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTGGACTGGGGAATATTGCCA	0.582000													5	8					0	0	0.000602	0	0
COL28A1	340267	broad.mit.edu	37	7	7516759	7516759	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:7516759C>T	ENST00000399429.3	-	14	1357	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	406					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTGGAAATCCTTCTCCGGG	0.473000													46	38					0	0	0.003610	0	0
DEFB112	245915	broad.mit.edu	37	6	50011320	50011320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:50011320G>A	ENST00000322246.4	-	2	309	c.310C>T	c.(310-312)Caa>Taa	p.Q104*		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	104					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TACCATTCTTGAGTCCCTACT	0.408000													14	30					0	0	0.003163	0	0
CILP2	148113	broad.mit.edu	37	19	19655896	19655896	+	Missense_Mutation	SNP	G	G	A	rs138043504		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:19655896G>A	ENST00000586018.1	+	8	2662	c.2560G>A	c.(2560-2562)Gac>Aac	p.D854N	CILP2_ENST00000291495.4_Missense_Mutation_p.D848N			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	848						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGTCGGACGGACCACGACGA	0.706000													21	7					0	0	0.001882	0	0
DYDC2	84332	broad.mit.edu	37	10	82122302	82122302	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:82122302C>T	ENST00000372199.1	+	4	701	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	DYDC2_ENST00000256039.2_Missense_Mutation_p.H35Y|DYDC2_ENST00000372198.1_Missense_Mutation_p.H49Y|DYDC2_ENST00000372197.1_Missense_Mutation_p.H35Y|DYDC2_ENST00000444807.2_Missense_Mutation_p.H35Y			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	35							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			ATACCTGGCTCACTGGCTTTA	0.498000													31	33					0	0	0.002445	0	0
DDR2	4921	broad.mit.edu	37	1	162731107	162731107	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:162731107C>T	ENST00000367922.2	+	10	1400	c.962C>T	c.(961-963)cCc>cTc	p.P321L	DDR2_ENST00000367921.3_Missense_Mutation_p.P321L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	321					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P321L(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATTTCCTTCCCCCTTGTCCTG	0.502000													6	22					0	0	0.003080	0	0
WDR86	349136	broad.mit.edu	37	7	151093146	151093146	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:151093146G>A	ENST00000334493.6	-	3	872	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	WDR86_ENST00000477459.1_Missense_Mutation_p.P20S|WDR86_ENST00000469830.2_Missense_Mutation_p.P148S	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	148										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTCCCACGGGGCAGAGTAG	0.692000													5	21					0	0	0.000602	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48222486	48222486	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:48222486A>T	ENST00000316878.6	-	4	1492	c.1490T>A	c.(1489-1491)cTg>cAg	p.L497Q	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	497	Interacts with RGS2 (By similarity).|PDZ.				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCCTTCTCCAGCTCCACAGG	0.622000													13	24					0	0	0.001368	0	0
SGIP1	84251	broad.mit.edu	37	1	67147693	67147693	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:67147693C>T	ENST00000371037.4	+	15	1033	c.956C>T	c.(955-957)tCc>tTc	p.S319F	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.S323F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	319	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCTGATACATCCCCGGAACAT	0.512000													28	87					0	0	0.008361	0	0
PSG6	5675	broad.mit.edu	37	19	43414834	43414834	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:43414834A>G	ENST00000187910.2	-	3	669	c.604T>C	c.(604-606)Tat>Cat	p.Y202H	PSG6_ENST00000292125.2_Missense_Mutation_p.Y202H|PSG6_ENST00000402603.4_Missense_Mutation_p.Y202H	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CCAAATAGATAGAGGGTCCTG	0.502000													70	52					0	0	0.003610	0	0
MAP3K15	389840	broad.mit.edu	37	X	19507025	19507025	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:19507025C>T	ENST00000338883.4	-	2	421	c.422G>A	c.(421-423)gGa>gAa	p.G141E		NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	141							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTCTCGGACTCCAAGATGGTA	0.478000													38	23					0	0	0.006999	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657456	46657456	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:46657456C>T	ENST00000253255.5	-	1	1763	c.1764G>A	c.(1762-1764)agG>agA	p.R588R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	588	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGTGCTTATCCCTAAAATTAC	0.368000													20	33					0	0	0.008871	0	0
ADAM32	203102	broad.mit.edu	37	8	39079206	39079206	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:39079206C>T	ENST00000379907.4	+	13	1438	c.1311C>T	c.(1309-1311)tgC>tgT	p.C437C	ADAM32_ENST00000437682.2_Silent_p.C338C|ADAM32_ENST00000519315.1_Silent_p.C331C	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	437	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAGGACTGTGCTGCAAAGACT	0.358000													4	19					0	0	0.000248	0	0
CLIP2	7461	broad.mit.edu	37	7	73790815	73790815	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:73790815A>T	ENST00000223398.6	+	10	2411	c.2084A>T	c.(2083-2085)gAg>gTg	p.E695V	CLIP2_ENST00000395060.1_Missense_Mutation_p.E695V|CLIP2_ENST00000361545.5_Missense_Mutation_p.E660V	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	695						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCCCAGGAGGAGCTGGCTGGG	0.687000													4	10					0	0	0.000602	0	0
PADI4	23569	broad.mit.edu	37	1	17657566	17657566	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:17657566C>T	ENST00000375448.4	+	2	221	c.195C>T	c.(193-195)tcC>tcT	p.S65S	PADI4_ENST00000375453.1_Silent_p.S65S|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	65					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCACAGGTTCCTCCACATGGC	0.607000													10	30					0	0	0.008291	0	0
SENP1	29843	broad.mit.edu	37	12	48482619	48482619	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:48482619G>A	ENST00000004980.5	-	5	823	c.345C>T	c.(343-345)agC>agT	p.S115S	SENP1_ENST00000448372.1_Silent_p.S115S|SENP1_ENST00000549595.1_Silent_p.S115S|SENP1_ENST00000549518.1_Silent_p.S115S|SENP1_ENST00000551330.1_Silent_p.S115S|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	115	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAAGACTTCGGCTGTTTCTTG	0.428000													6	11					0	0	0.001984	0	0
TGM5	9333	broad.mit.edu	37	15	43531403	43531403	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:43531403C>T	ENST00000220420.5	-	8	1070	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	TGM5_ENST00000349114.4_Missense_Mutation_p.G273S	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	355					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACCTGCCAGCCTCCATATGCA	0.602000													11	30					0	0	0.001855	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714955	92714955	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:92714955C>T	ENST00000257068.2	+	2	572	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	189					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CGCATCTATTCCTGCACCTTC	0.607000													118	68					0	0	0.003610	0	0
SSFA2	6744	broad.mit.edu	37	2	182784145	182784145	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:182784145C>T	ENST00000431877.2	+	14	3295	c.3116C>T	c.(3115-3117)cCt>cTt	p.P1039L	SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000428267.2_Missense_Mutation_p.P886L|SSFA2_ENST00000409001.1_Missense_Mutation_p.P1039L|SSFA2_ENST00000320370.7_Missense_Mutation_p.P1039L|SSFA2_ENST00000409136.1_Missense_Mutation_p.P548L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1039						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTGCGCATGCCTTCACCCTTC	0.532000													54	66					0	0	0.003610	0	0
NCAPG2	54892	broad.mit.edu	37	7	158486165	158486165	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:158486165G>A	ENST00000409339.3	-	3	216	c.103C>T	c.(103-105)Cta>Tta	p.L35L	NCAPG2_ENST00000356309.3_Silent_p.L35L|NCAPG2_ENST00000449727.2_Silent_p.L35L|NCAPG2_ENST00000479022.1_5'UTR|NCAPG2_ENST00000409423.1_Silent_p.L35L			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	35					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AATTCATTTAGGCTGAAAGGA	0.323000													7	34					0	0	0.004482	0	0
FRMD1	79981	broad.mit.edu	37	6	168461452	168461452	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:168461452C>T	ENST00000283309.6	-	9	1395	c.1331G>A	c.(1330-1332)gGt>gAt	p.G444D	FRMD1_ENST00000537786.1_Missense_Mutation_p.G215D|FRMD1_ENST00000440994.2_Missense_Mutation_p.G376D|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	444						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TTGGCTGTCACCACGTGTGCT	0.667000													23	6					0	0	0.006320	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518316	233518316	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:233518316G>A	ENST00000366624.3	+	10	3231	c.2970G>A	c.(2968-2970)gaG>gaA	p.E990E	MLK4_ENST00000366622.1_Silent_p.E436E	NM_032435.2	NP_115811.2																					CTGCCAAGGAGAGAACTAAAT	0.557000													6	22					0	0	0.003080	0	0
FPR1	2357	broad.mit.edu	37	19	52249761	52249761	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:52249761G>A	ENST00000595042.1	-	3	628	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	FPR1_ENST00000304748.4_Missense_Mutation_p.R163C	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	163					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTAGTCACACGAATGATAACT	0.537000													22	13					0	0	0.002299	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180918	19180918	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:19180918G>A	ENST00000375371.3	-	3	1067	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	349					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCTGCTGAGGGGTGGCGGCCC	0.637000													14	14					0	0	0.004007	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774369	89774369	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:89774369C>G	ENST00000448984.1	+	8	1339	c.1010C>G	c.(1009-1011)aCc>aGc	p.T337S	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	337	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						CAGACTTTCACCTCGGGCAAA	0.433000													17	14					0	0	0.008871	0	0
THBS1	7057	broad.mit.edu	37	15	39885345	39885345	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:39885345C>T	ENST00000260356.5	+	18	3077	c.2912C>T	c.(2911-2913)tCc>tTc	p.S971F		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	971	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AAAGGGACATCCCAAAATGAC	0.502000													12	19					0	0	0.001855	0	0
NEB	4703	broad.mit.edu	37	2	152512943	152512943	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:152512943C>T	ENST00000427231.2	-	49	6421	c.6219G>A	c.(6217-6219)ggG>ggA	p.G2073G	NEB_ENST00000604864.1_Silent_p.G2073G|NEB_ENST00000409198.1_Silent_p.G2073G|NEB_ENST00000397345.3_Silent_p.G2073G|NEB_ENST00000603639.1_Silent_p.G2073G|NEB_ENST00000172853.10_Silent_p.G2073G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2073					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAACCATTTTCCCCTTCCCTT	0.373000													52	45					0	0	0.003610	0	0
TMEM248	55069	broad.mit.edu	37	7	66410097	66410097	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:66410097C>T	ENST00000341567.4	+	3	549	c.294C>T	c.(292-294)acC>acT	p.T98T		NM_017994.4	NP_060464.1			transmembrane protein 248																		GAGCTTCCACCCAGTCCCCCC	0.567000													36	22					0	0	0.005524	0	0
OBSCN	84033	broad.mit.edu	37	1	228505765	228505765	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:228505765G>A	ENST00000570156.2	+	64	16967	c.16893G>A	c.(16891-16893)caG>caA	p.Q5631Q	OBSCN_ENST00000284548.11_Silent_p.Q4674Q|OBSCN_ENST00000366709.4_Silent_p.Q1793Q|OBSCN_ENST00000422127.1_Silent_p.Q4674Q|OBSCN_ENST00000366707.4_Silent_p.Q2308Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4674	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGTCTCCCAGGGTCGGCAAC	0.637000													34	49					0	0	0.008740	0	0
OR8B4	283162	broad.mit.edu	37	11	124294693	124294693	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:124294693G>A	ENST00000356130.3	-	1	96	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGAAAAGAGGGAGCTGGAGCT	0.483000													22	12					0	0	0.002299	0	0
POTEF	728378	broad.mit.edu	37	2	130832241	130832241	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:130832241G>A	ENST00000357462.5	-	15	2897	c.2804C>T	c.(2803-2805)tCc>tTc	p.S935F	POTEF_ENST00000409914.2_Missense_Mutation_p.S935F			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	935	Actin-like.					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						CTTCTCTAGGGAGGAGCTGGA	0.622000													13	19					0	0	0.006122	0	0
PDE7B	27115	broad.mit.edu	37	6	136500196	136500196	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:136500196G>A	ENST00000308191.6	+	10	1168	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	289	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CAGGCAGAATGAATTTTTGAC	0.418000													39	26					0	0	0.006999	0	0
DSPP	1834	broad.mit.edu	37	4	88533702	88533702	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:88533702G>A	ENST00000399271.1	+	4	484	c.364G>A	c.(364-366)Gat>Aat	p.D122N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.D122N	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	122					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ATATGGTCATGATGGAATACA	0.428000													11	13					0	0	0.008291	0	0
NLRP9	338321	broad.mit.edu	37	19	56243801	56243801	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56243801G>A	ENST00000332836.2	-	2	1423	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	466						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCGGGTTAGGATCGTCTTTG	0.478000													44	23					0	0	0.003610	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37470658	37470658	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:37470658C>T	ENST00000381792.2	-	12	1573	c.1433G>A	c.(1432-1434)aGa>aAa	p.R478K	TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R487K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R478K|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R478K			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	487	LDL-receptor class A 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACCGCAGTTTCTCTCATCCAG	0.597000													14	23					0	0	0.002450	0	0
CUL7	9820	broad.mit.edu	37	6	43013404	43013404	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:43013404G>A	ENST00000535468.1	-	14	3121	c.3035C>T	c.(3034-3036)tCt>tTt	p.S1012F	CUL7_ENST00000265348.3_Missense_Mutation_p.S928F|CUL7_ENST00000478630.1_5'UTR	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	928					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCGGCTGGCAGAGGGCATCAC	0.612000													28	25					0	0	0.008361	0	0
PRAM1	84106	broad.mit.edu	37	19	8564198	8564198	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:8564198C>T	ENST00000423345.4	-	2	1014	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.R165Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	213	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|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						CAGGGGTTTCCGGGCCGGCGC	0.692000													10	7					0	0	0.008291	0	0
ZNF28	7576	broad.mit.edu	37	19	53303922	53303922	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:53303922G>A	ENST00000438150.2	-	2	1910	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	ZNF28_ENST00000360272.4_Silent_p.F339F|ZNF28_ENST00000414252.2_Silent_p.F339F|ZNF28_ENST00000457749.2_Silent_p.F392F			P17035	ZNF28_HUMAN	zinc finger protein 28	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTTGCGACTGAAAACTTTTT	0.383000													31	23					0	0	0.002445	0	0
PTGDR	5729	broad.mit.edu	37	14	52735046	52735046	+	Missense_Mutation	SNP	G	G	A	rs142969446	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:52735046G>A	ENST00000306051.2	+	1	616	c.514G>A	c.(514-516)Ggg>Agg	p.G172R	PTGDR_ENST00000553372.1_Missense_Mutation_p.G172R	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	172						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATGGGCTTCGGGAAGTTCGT	0.637000													37	22					0	0	0.003755	0	0
MYH15	22989	broad.mit.edu	37	3	108229341	108229341	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:108229341G>A	ENST00000273353.3	-	2	153	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	33	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCTTCTGAGGAAGGCTGCG	0.463000													17	41					0	0	0.004007	0	0
ASTN1	460	broad.mit.edu	37	1	177001938	177001938	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:177001938G>A	ENST00000367654.2	-	3	532	c.519C>T	c.(517-519)atC>atT	p.I173I	ASTN1_ENST00000361833.2_Silent_p.I173I|ASTN1_ENST00000367657.3_Silent_p.I173I|ASTN1_ENST00000424564.2_Silent_p.I173I|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	173					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGTATACAGGATCATCACCA	0.582000													9	30					0	0	0.004482	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928671	40928671	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:40928671G>A	ENST00000411995.2	+	6	1390	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	ZFP69B_ENST00000361584.3_Missense_Mutation_p.E237K|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		TGAATGTAAGGAGTGTGGGAA	0.413000													19	24					0	0	0.008871	0	0
ERCC6	2074	broad.mit.edu	37	10	50740841	50740841	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:50740841G>A	ENST00000355832.5	-	2	248	c.170C>T	c.(169-171)tCt>tTt	p.S57F	PGBD3_ENST00000603152.1_Missense_Mutation_p.S57F|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.S57F|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.S57F	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	57					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCCACAGCAGAGGTGGACAG	0.577000								Direct reversal of damage;Nucleotide excision repair (NER)					7	22					0	0	0.001984	0	0
STYXL1	51657	broad.mit.edu	37	7	75634723	75634723	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:75634723C>T	ENST00000451157.1	-	6	623		c.e6-1		STYXL1_ENST00000340062.5_Splice_Site|STYXL1_ENST00000359697.3_Splice_Site|STYXL1_ENST00000360591.3_Splice_Site|STYXL1_ENST00000431581.1_Splice_Site|STYXL1_ENST00000248600.1_Splice_Site			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1						intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CATCCAGTTCCTGAAGTGTGG	0.493000													30	25					0	0	0.003755	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711920	140711920	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:140711920G>A	ENST00000517417.1	+	1	1669	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D557N	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)			GGACCAGAACGACAACGCGCC	0.642000													67	45					0	0	0.003610	0	0
SLC30A8	169026	broad.mit.edu	37	8	118169949	118169949	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:118169949C>T	ENST00000427715.2	+	7	725	c.291C>T	c.(289-291)ctC>ctT	p.L97L	SLC30A8_ENST00000521243.1_Silent_p.L97L|SLC30A8_ENST00000456015.2_Silent_p.L146L|SLC30A8_ENST00000519688.1_Silent_p.L97L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	146					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GTGCCCTGCTCTCCATCCTGT	0.517000													166	189					0	0	0.003610	0	0
PABPN1	8106	broad.mit.edu	37	14	23793409	23793409	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:23793409C>T	ENST00000397276.2	+	6	805	c.792C>T	c.(790-792)gcC>gcT	p.A264A	PABPN1_ENST00000216727.4_Silent_p.A264A|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.A291A|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.A291A|PABPN1_ENST00000556821.1_Silent_p.A136A|PABPN1_ENST00000557702.1_Silent_p.A136A					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TTCCACGAGCCCGCTACCGCG	0.547000													17	9					0	0	0.006122	0	0
STON1	11037	broad.mit.edu	37	2	48807923	48807923	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:48807923C>T	ENST00000309835.3	+	1	161	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P51S|STON1_ENST00000404752.1_Missense_Mutation_p.P51S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P51S|STON1_ENST00000406226.1_Missense_Mutation_p.P51S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P51S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P51S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P51S					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGGGAATTTCCCAGTGGATC	0.463000													27	32					0	0	0.003954	0	0
FCN2	2220	broad.mit.edu	37	9	137775148	137775148	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:137775148G>A	ENST00000350339.2	+	2	115	c.100_splice	c.e2-1	p.G34_splice	FCN2_ENST00000291744.6_Splice_Site_p.G72_splice	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	72					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GAAATTGCAGGAGAACGTGGC	0.587000													14	16					0	0	0.001882	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095587	103095587	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:103095587G>A	ENST00000295269.4	+	2	1003	c.546G>A	c.(544-546)caG>caA	p.Q182Q		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	182					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCATCTGCCAGGTGAAGGCCT	0.617000													6	29					0	0	0.001984	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536033	166536033	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:166536033G>A	ENST00000314499.7	+	7	1904	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	CSRNP3_ENST00000342316.4_Missense_Mutation_p.D510N|CSRNP3_ENST00000409420.1_Missense_Mutation_p.D542N	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	510					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TTCCGAAAATGATAGCGGTGT	0.502000													18	17					0	0	0.008871	0	0
GUCY2D	3000	broad.mit.edu	37	17	7916452	7916452	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:7916452G>A	ENST00000254854.4	+	11	2295	c.2145G>A	c.(2143-2145)agG>agA	p.R715R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	715	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AGCTGCTTAGGGACCCAGCCC	0.647000													13	4					0	0	0.002450	0	0
GRIA2	2891	broad.mit.edu	37	4	158281185	158281185	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:158281185C>T	ENST00000296526.7	+	13	2506	c.2181C>T	c.(2179-2181)tcC>tcT	p.S727S	GRIA2_ENST00000393815.2_Silent_p.S680S|GRIA2_ENST00000507898.1_Silent_p.S680S|GRIA2_ENST00000264426.9_Silent_p.S727S|GRIA2_ENST00000449365.1_Silent_p.S680S	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	727					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGTTGGAGTCCACGATGAACG	0.517000													21	37					0	0	0.002299	0	0
OR4N4	283694	broad.mit.edu	37	15	22382571	22382571	+	Silent	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:22382571T>A	ENST00000328795.4	+	1	190	c.99T>A	c.(97-99)atT>atA	p.I33I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGATCTTAATTTTCTACCTTA	0.413000													26	178					0	0	0.001786	0	0
ZNF99	7652	broad.mit.edu	37	19	22940058	22940058	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22940058G>A	ENST00000397104.3	-	6	2272	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTTGAGGAATTGTTAAA	0.348000													12	16					0	0	0.001368	0	0
MAML3	55534	broad.mit.edu	37	4	140811492	140811492	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:140811492G>A	ENST00000509479.2	-	2	1954	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	MAML3_ENST00000327122.5_Silent_p.F210F	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	366					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)					AGACATGTGCGAAGGGAGAGT	0.562000													37	53					0	0	0.005524	0	0
KIAA0319	9856	broad.mit.edu	37	6	24582553	24582553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:24582553C>T	ENST00000535378.1	-	7	1730	c.1088G>A	c.(1087-1089)tGg>tAg	p.W363*	KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W327*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W372*	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	372	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TATTAAATTCCATTCATAGTT	0.393000													67	81					0	0	0.003610	0	0
CLCN2	1181	broad.mit.edu	37	3	184069835	184069835	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:184069835G>A	ENST00000265593.4	-	22	2552	c.2381C>T	c.(2380-2382)cCc>cTc	p.P794L	CLCN2_ENST00000457512.1_Missense_Mutation_p.P794L|CLCN2_ENST00000434054.2_Missense_Mutation_p.P750L|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.P777L	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	794	CBS 2.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGCTGGAAGGGAGCAGGATC	0.562000													41	112					0	0	0.003610	0	0
ZNF423	23090	broad.mit.edu	37	16	49671455	49671455	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:49671455G>A	ENST00000561648.1	-	4	1661	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	ZNF423_ENST00000262383.2_Silent_p.I536I|ZNF423_ENST00000535559.1_Silent_p.I419I|ZNF423_ENST00000567169.1_Silent_p.I419I|ZNF423_ENST00000563137.2_Silent_p.I476I|ZNF423_ENST00000562871.1_Silent_p.I476I|ZNF423_ENST00000562520.1_Silent_p.I476I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	536					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGGCCTGCTGGATGTGCTCGG	0.582000													22	24					0	0	0.002299	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955837	51955837	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:51955837G>A	ENST00000321424.3	-	7	1362	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P	SIGLEC8_ENST00000430817.1_Silent_p.P323P|SIGLEC8_ENST00000340550.5_Silent_p.P339P	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	432					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAACAGCTGGGGGAGGCTTCT	0.592000													23	12					0	0	0.002299	0	0
CAPN10	11132	broad.mit.edu	37	2	241537805	241537805	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:241537805C>T	ENST00000391984.2	+	11	2176	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	CAPN10_ENST00000354082.4_Silent_p.F505F|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Silent_p.F126F|CAPN10_ENST00000404753.3_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	660					actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGGCCAGTTCCTCCAAGAGG	0.622000													7	19					0	0	0.004482	0	0
ZNF768	79724	broad.mit.edu	37	16	30536451	30536451	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:30536451C>T	ENST00000380412.5	-	2	1185	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	ZNF768_ENST00000562803.1_Missense_Mutation_p.R306H	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	337					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGAGTGAGTGCGCTGGTGGCG	0.632000													4	10					0	0	0.000248	0	0
TMEM189	387521	broad.mit.edu	37	20	48746165	48746165	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:48746165G>A	ENST00000557021.1	-	4	556	c.396C>T	c.(394-396)ttC>ttT	p.F132F	TMEM189_ENST00000371650.5_Silent_p.F129F|TMEM189_ENST00000371652.4_Silent_p.F132F|TMEM189_ENST00000371656.2_Silent_p.F57F|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.F132F	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TGGTCTCGATGAAGTCGTGCC	0.597000													28	49					0	0	0.005443	0	0
INO80D	54891	broad.mit.edu	37	2	206869260	206869260	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:206869260G>A	ENST00000403263.1	-	11	3320	c.2916C>T	c.(2914-2916)ctC>ctT	p.L972L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGAACTGAGGGAGTTGCTGCT	0.592000													7	6					0	0	0.004482	0	0
NBPF1	55672	broad.mit.edu	37	1	16892177	16892177	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:16892177G>A	ENST00000430580.2	-	27	3902	c.3015C>T	c.(3013-3015)tcC>tcT	p.S1005S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1005	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATGCATAAAAGGAACTTCCAT	0.448000													62	2042					0	0	0.008871	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													4	58					0	0	0.001984	0	0
AGBL4	84871	broad.mit.edu	37	1	49056532	49056532	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:49056532G>A	ENST00000371839.1	-	10	1193	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	AGBL4_ENST00000334103.7_Silent_p.L92L	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	359					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CATTCTGGCAGAGGAGCTTGG	0.547000													4	3					0	0	0.000602	0	0
MYO16	23026	broad.mit.edu	37	13	109475607	109475607	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:109475607C>T	ENST00000356711.2	+	9	1138	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	MYO16_ENST00000251041.5_Missense_Mutation_p.P338S|MYO16_ENST00000357550.2_Missense_Mutation_p.P338S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	338					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.P338T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCACGATCTTCCCGTACTGTC	0.433000													21	17					0	0	0.002299	0	0
PLCB1	23236	broad.mit.edu	37	20	8698344	8698344	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:8698344C>T	ENST00000378641.3	+	14	1837	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.S454S|PLCB1_ENST00000338037.6_Silent_p.S454S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	454	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTCTTCCAAGCCCTATGGATT	0.408000													20	42					0	0	0.003954	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779021	31779021	+	Silent	SNP	G	G	A	rs140616297	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31779021G>A	ENST00000375654.4	-	2	918	c.729C>T	c.(727-729)ttC>ttT	p.F243F	HSPA1L_ENST00000417199.3_Silent_p.F243F	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	243					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACTCCTCCACGAAGTGGCTCA	0.557000													153	414					0	0	0.003610	0	0
PRDM9	56979	broad.mit.edu	37	5	23527765	23527765	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:23527765G>A	ENST00000296682.3	+	11	2750	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	856					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						CACACACAGGGGAGAAGCCCT	0.587000										HNSCC(3;0.000094)			27	94					0	0	0.006320	0	0
GDAP2	54834	broad.mit.edu	37	1	118454616	118454616	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:118454616G>A	ENST00000369443.4	-	5	808	c.559_splice	c.e5+1	p.R187_splice	GDAP2_ENST00000369442.3_Splice_Site_p.R187_splice	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	187	Macro.							p.R187C(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TATTACTTACGAAGTGCTATG	0.403000													9	24					0	0	0.004482	0	0
TUSC3	7991	broad.mit.edu	37	8	15605946	15605946	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:15605946C>T	ENST00000382020.4	+	9	1208	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	TUSC3_ENST00000503731.1_Missense_Mutation_p.R334C|TUSC3_ENST00000506802.1_Intron	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	334					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCAATATTTCGTTCCAAGTA	0.318000													52	55					0	0	0.003610	0	0
ZNF107	51427	broad.mit.edu	37	7	64167562	64167562	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:64167562C>T	ENST00000395391.1	+	4	2255	c.880C>T	c.(880-882)Cat>Tat	p.H294Y	ZNF107_ENST00000423627.1_Missense_Mutation_p.H294Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.H294Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GGAGAAAATTCATACTGGAGG	0.353000													38	30					0	0	0.002522	0	0
SLIT3	6586	broad.mit.edu	37	5	168114030	168114030	+	Missense_Mutation	SNP	C	C	T	rs148887706		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:168114030C>T	ENST00000519560.1	-	30	3687	c.3268G>A	c.(3268-3270)Gtg>Atg	p.V1090M	SLIT3_ENST00000404867.3_Missense_Mutation_p.V1090M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V1097M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1090	EGF-like 5.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGTGTCCACGCACTGGGCC	0.622000													24	11					0	0	0.005443	0	0
PSG8	440533	broad.mit.edu	37	19	43268068	43268068	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:43268068G>A	ENST00000404209.4	-	2	526	c.430_splice	c.e2+1	p.L144_splice	PSG8_ENST00000306511.4_Splice_Site_p.L144_splice|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Splice_Site_p.P144_splice	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	144	Ig-like V-type.					extracellular region		p.L144L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AATCACTCACGATATAAGGTG	0.498000													83	47					0	0	0.003610	0	0
OR4A5	81318	broad.mit.edu	37	11	51411617	51411617	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:51411617G>A	ENST00000319760.6	-	1	831	c.779C>T	c.(778-780)tCa>tTa	p.S260L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	260					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)				AGGAAAGTTTGAAACAGGTCT	0.383000													11	9					0	0	0.001368	0	0
ABCG8	64241	broad.mit.edu	37	2	44079493	44079493	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:44079493G>A	ENST00000272286.2	+	5	652	c.561_splice	c.e5-1	p.V188_splice		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	188	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGCCCACAGGTGGAGGACGT	0.657000													48	80					0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36899218	36899218	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:36899218C>T	ENST00000429976.2	-	12	2110	c.1863G>A	c.(1861-1863)ggG>ggA	p.G621G	TRANK1_ENST00000428977.2_Silent_p.G71G|TRANK1_ENST00000301807.6_Silent_p.G71G			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	621					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAGAGCTTCCCCAGGTGGG	0.572000													54	31					0	0	0.003610	0	0
PTGDS	5730	broad.mit.edu	37	9	139873803	139873803	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:139873803C>T	ENST00000224167.2	+	3	458	c.383C>T	c.(382-384)gCc>gTc	p.A128V	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Intron			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	111					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCGACACTTGCCGGGACGACT	0.731000													3	6					0	0	0.004672	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968231	35968231	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:35968231A>C	ENST00000274278.3	-	3	558	c.201T>G	c.(199-201)atT>atG	p.I67M	UGT3A1_ENST00000507113.1_Missense_Mutation_p.I33M|UGT3A1_ENST00000333811.4_Missense_Mutation_p.I13M|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.I67M	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	67						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTCCTCTTTAATATCTAAGA	0.274000													9	14					0	0	0.004482	0	0
CCDC130	81576	broad.mit.edu	37	19	13873709	13873709	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:13873709A>G	ENST00000586600.1	+	11	1521	c.1018A>G	c.(1018-1020)Aca>Gca	p.T340A	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.T340A			P13994	CC130_HUMAN	coiled-coil domain containing 130	340					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCCTCCGGAAACAACTGAGAC	0.692000													7	2					0	0	0.003080	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573629	76573629	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:76573629C>T	ENST00000307431.8	+	21	3616	c.3231C>T	c.(3229-3231)atC>atT	p.I1077I	CNTNAP4_ENST00000377504.4_Silent_p.I1029I|CNTNAP4_ENST00000476707.1_Silent_p.I1081I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.I1005I	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1078	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTTTGCAGATCAGGTACAAGT	0.333000													18	21					0	0	0.006122	0	0
MYO9A	4649	broad.mit.edu	37	15	72338673	72338673	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:72338673G>A	ENST00000356056.5	-	2	704	c.232C>T	c.(232-234)Cca>Tca	p.P78S	MYO9A_ENST00000424560.1_Missense_Mutation_p.P78S|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.P78S|MYO9A_ENST00000444904.1_Missense_Mutation_p.P78S|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	78	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAATCTGTTGGATTGAGAATC	0.418000													9	39					0	0	0.008291	0	0
CTF1	1489	broad.mit.edu	37	16	30910772	30910772	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:30910772C>T	ENST00000279804.2	+	2	99	c.62C>T	c.(61-63)cCc>cTc	p.P21L	CTF1_ENST00000395019.3_Missense_Mutation_p.P20L	NM_001142544.1|NM_001330.3	NP_001136016.1|NP_001321.1	Q16619	CTF1_HUMAN	cardiotrophin 1	21					cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation	extracellular space	cytokine activity|leukemia inhibitory factor receptor binding			large_intestine(1)|urinary_tract(1)	2			Colorectal(24;0.198)			TCACTTCTTCCCCACTTGGAG	0.567000													26	20					0	0	0.006320	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530396	5530396	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:5530396G>A	ENST00000311659.4	-	2	540	c.393C>T	c.(391-393)gcC>gcT	p.A131A	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	131										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAAGCTAAAGGCAGGGGGCC	0.612000													10	8					0	0	0.001855	0	0
WWC3	55841	broad.mit.edu	37	X	10092359	10092359	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:10092359C>T	ENST00000380861.4	+	13	2197	c.1806C>T	c.(1804-1806)ccC>ccT	p.P602P	WWC3_ENST00000454666.1_Silent_p.P602P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	602										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACGGAGATCCCCAGATCCACG	0.602000													26	15					0	0	0.004656	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148695858	148695858	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:148695858C>T	ENST00000296721.4	+	11	1357	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P420L	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	420	PH 2.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAGGTTCCCTGCTGTGGT	0.642000													31	21					0	0	0.003755	0	0
MYO5C	55930	broad.mit.edu	37	15	52497106	52497106	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:52497106G>A	ENST00000261839.7	-	38	4937	c.4776C>T	c.(4774-4776)ttC>ttT	p.F1592F	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1592	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCTTGCGCAGGAAGAGGCTGT	0.582000													6	8					0	0	0.001168	0	0
DGKI	9162	broad.mit.edu	37	7	137282621	137282621	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:137282621C>T	ENST00000453654.1	-	12	922	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	DGKI_ENST00000446122.1_Missense_Mutation_p.R428Q|DGKI_ENST00000424189.2_Missense_Mutation_p.R428Q|DGKI_ENST00000288490.5_Missense_Mutation_p.R428Q			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	428					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGCCAGAATTCGCAGATTTGG	0.413000													6	31					0	0	0.001984	0	0
LY6H	4062	broad.mit.edu	37	8	144239839	144239839	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:144239839A>T	ENST00000414417.2	-	5	547	c.314T>A	c.(313-315)tTt>tAt	p.F105Y	LY6H_ENST00000342752.4_Missense_Mutation_p.F105Y|LY6H_ENST00000430474.2_Missense_Mutation_p.F84Y	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	84					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTCTGAGAAAAAGTGTCGCTT	0.547000													26	55					0	0	0.007291	0	0
CYP11A1	1583	broad.mit.edu	37	15	74631586	74631586	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:74631586G>A	ENST00000358632.4	-	7	1449	c.754C>T	c.(754-756)Cct>Tct	p.P252S	CYP11A1_ENST00000419019.2_Missense_Mutation_p.P252S|CYP11A1_ENST00000268053.6_Missense_Mutation_p.P410S	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	410					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	ACCTTGGCAGGAATCATGTAA	0.577000													6	31					0	0	0.001984	0	0
GPR142	350383	broad.mit.edu	37	17	72363681	72363681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:72363681C>T	ENST00000335666.4	+	1	85	c.37C>T	c.(37-39)Cag>Tag	p.Q13*		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	13						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GCAAAAGATCCAGTGGGTCCC	0.502000													74	20					0	0	0.003610	0	0
MYOM2	9172	broad.mit.edu	37	8	2089090	2089090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:2089090C>T	ENST00000262113.4	+	34	4132	c.3991C>T	c.(3991-3993)Cag>Tag	p.Q1331*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Q756*|MYOM2_ENST00000520298.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1331					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGCAGAATTCCAGCAATTCAA	0.368000													4	30					0	0	0.000602	0	0
IL7R	3575	broad.mit.edu	37	5	35875648	35875648	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:35875648C>T	ENST00000303115.3	+	7	964	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	IL7R_ENST00000343305.4_Silent_p.I247I|IL7R_ENST00000506850.1_Silent_p.I247I	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	279					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCTCCCCGATCATAAGAAGAC	0.443000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						10	29					0	0	0.001855	0	0
VWA2	340706	broad.mit.edu	37	10	116032518	116032518	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:116032518G>A	ENST00000603594.1	+	6	712	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	VWA2_ENST00000392982.3_Missense_Mutation_p.E131K	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	131	VWFA 1.		E -> G (in dbSNP:rs597371).			extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CACGGAGACGGAACTTGCTCT	0.517000													11	36					0	0	0.002450	0	0
SPTBN1	6711	broad.mit.edu	37	2	54853249	54853249	+	Missense_Mutation	SNP	C	C	T	rs144666036		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:54853249C>T	ENST00000333896.5	+	11	1868	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R508W	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	508					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAATGTCATCCGGCTCTGGGA	0.572000													20	57					0	0	0.001882	0	0
DNAH7	56171	broad.mit.edu	37	2	196825151	196825151	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:196825151C>T	ENST00000312428.6	-	18	2824	c.2724G>A	c.(2722-2724)atG>atA	p.M908I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	908	Stem (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						ACTCAGTAATCATCTTCTCCA	0.368000													17	74					0	0	0.004007	0	0
KCNG2	26251	broad.mit.edu	37	18	77623910	77623910	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:77623910C>T	ENST00000316249.3	+	1	243	c.243C>T	c.(241-243)atC>atT	p.I81I		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	81					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TCCGCGCCATCGTGGCGCTTT	0.716000													3	6					0	0	0.000248	0	0
OR10G7	390265	broad.mit.edu	37	11	123909399	123909399	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:123909399G>A	ENST00000330487.5	-	1	318	c.310C>T	c.(310-312)Cac>Tac	p.H104Y		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		CCCAGGAAGTGGAAAAAATAG	0.537000													19	76					0	0	0.002299	0	0
GOLGB1	2804	broad.mit.edu	37	3	121383332	121383332	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:121383332G>A	ENST00000393667.3	-	22	9915	c.9805C>T	c.(9805-9807)Cta>Tta	p.L3269L	GOLGB1_ENST00000340645.5_Silent_p.L3259L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3259					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TAAGTCTATAGATGGCCCGTA	0.453000													10	22					0	0	0.001368	0	0
ADRA2B	151	broad.mit.edu	37	2	96781405	96781405	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:96781405G>A	ENST00000409345.3	-	1	579	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	162					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TTGCACTGGGGGCGCCCGCGC	0.617000													8	27					0	0	0.003080	0	0
RPTN	126638	broad.mit.edu	37	1	152129289	152129289	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152129289C>T	ENST00000316073.3	-	3	350	c.286G>A	c.(286-288)Ggc>Agc	p.G96S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	96						proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GAGGTCCTGCCTCCATGTGAC	0.483000													33	111					0	0	0.004878	0	0
ACTL8	81569	broad.mit.edu	37	1	18149783	18149783	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:18149783G>A	ENST00000375406.1	+	2	496	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	94						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ACGGGAGCAAGAGGTCCCCCC	0.617000													23	19					0	0	0.003330	0	0
PRKX	5613	broad.mit.edu	37	X	3592715	3592715	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:3592715G>A	ENST00000262848.5	-	2	613	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	87	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				TGCTTTAGGCGGATGACGTCG	0.572000													43	19					0	0	0.002852	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170151	207170151	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:207170151T>G	ENST00000374423.3	+	5	1285	c.899T>G	c.(898-900)gTt>gGt	p.V300G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	300							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCCTTAAGAGTTAAATCTCCT	0.368000													9	14					0	0	0.008291	0	0
SSH1	54434	broad.mit.edu	37	12	109186023	109186023	+	Silent	SNP	G	G	A	rs149188196	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:109186023G>A	ENST00000326470.5	-	13	2110	c.1965C>T	c.(1963-1965)tcC>tcT	p.S655S	SSH1_ENST00000360239.3_Intron|SSH1_ENST00000326495.5_Intron|SSH1_ENST00000551165.1_Silent_p.S644S	NM_001161331.1	NP_001154803.1	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	0					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGATGGAAGGGATGGGGTGT	0.567000													10	13					0	0	0.008291	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12832321	12832321	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:12832321G>A	ENST00000379672.5	+	7	840	c.540G>A	c.(538-540)agG>agA	p.R180R	ARHGAP44_ENST00000262444.9_Silent_p.R180R|ARHGAP44_ENST00000340825.3_Silent_p.R180R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	180	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ATGCCCTCAGGGAAGAAATGG	0.552000													4	3					0	0	0.000248	0	0
TSHR	7253	broad.mit.edu	37	14	81610058	81610058	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:81610058C>T	ENST00000541158.2	+	11	1978	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.L552L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	552					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.L552L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCTTCCTTCTCGCCCTGCTTC	0.557000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						32	8					0	0	0.002445	0	0
ZAP70	7535	broad.mit.edu	37	2	98349462	98349462	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:98349462C>T	ENST00000264972.5	+	5	895	c.680C>T	c.(679-681)aCc>aTc	p.T227I	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.T101I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	227	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCGAGGGCACCAAGTTTGAC	0.607000													21	20					0	0	0.002299	0	0
MTOR	2475	broad.mit.edu	37	1	11199665	11199665	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11199665G>A	ENST00000361445.4	-	35	4999	c.4923C>T	c.(4921-4923)tcC>tcT	p.S1641S	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1641	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGACCACAAGGGACCGCACCA	0.502000													42	61					0	0	0.002522	0	0
CLN6	54982	broad.mit.edu	37	15	68506701	68506701	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:68506701G>A	ENST00000249806.5	-	3	381	c.224C>T	c.(223-225)cCa>cTa	p.P75L	CLN6_ENST00000418702.2_Missense_Mutation_p.H41Y|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000538696.1_Missense_Mutation_p.P107L|CLN6_ENST00000564752.1_Missense_Mutation_p.P75L|CLN6_ENST00000566347.1_Missense_Mutation_p.P75L	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	75					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTTGTTGAGTGGAAACCACTC	0.602000													11	24					0	0	0.001855	0	0
LTK	4058	broad.mit.edu	37	15	41799417	41799417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:41799417G>A	ENST00000263800.6	-	11	1513	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	LTK_ENST00000561619.1_Nonsense_Mutation_p.R171*|LTK_ENST00000453182.2_Intron|LTK_ENST00000355166.5_Nonsense_Mutation_p.R412*	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	473					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCAGAGGTTCGAAGCTTGCTC	0.617000										TSP Lung(18;0.14)			10	18					0	0	0.000978	0	0
BCAM	4059	broad.mit.edu	37	19	45322847	45322847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:45322847C>T	ENST00000391955.1	+	13	1671	c.1627C>T	c.(1627-1629)Cag>Tag	p.Q543*	BCAM_ENST00000270233.6_Nonsense_Mutation_p.Q543*			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	543					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGTGAGCCCCCAGACCTCCCA	0.667000													51	33					0	0	0.003610	0	0
N6AMT1	29104	broad.mit.edu	37	21	30252202	30252202	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:30252202G>A	ENST00000303775.5	-	4	411	c.386C>T	c.(385-387)cCa>cTa	p.P129L	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	129					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						CTCTTGAGGTGGAGTCACTAC	0.323000													21	91					0	0	0.002780	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057643	63057643	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:63057643C>T	ENST00000332793.6	+	1	8	c.6C>T	c.(4-6)gcC>gcT	p.A2A	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	2						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AATCAATGGCCTTTGAGGAGC	0.398000													13	12					0	0	0.002450	0	0
ZBTB46	140685	broad.mit.edu	37	20	62378417	62378417	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:62378417C>T	ENST00000245663.4	-	5	1786	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	ZBTB46_ENST00000395104.1_Missense_Mutation_p.E546K|ZBTB46_ENST00000302995.2_Missense_Mutation_p.E546K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCCAGCTCCTCCGCCTCCCCT	0.726000													18	7					0	0	0.002299	0	0
SCAND3	114821	broad.mit.edu	37	6	28547076	28547076	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28547076G>A	ENST00000452236.2	-	2	1158	c.541C>T	c.(541-543)Cca>Tca	p.P181S	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	181					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGTGGCTCTGGAGATTCACAT	0.408000													50	152					0	0	0.003610	0	0
MYCBP2	23077	broad.mit.edu	37	13	77651353	77651353	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:77651353G>A	ENST00000407578.2	-	67	11920	c.11654C>T	c.(11653-11655)tCa>tTa	p.S3885L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3847L|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S3847L|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACACTGGCTGAAATCTGGCC	0.443000													21	9					0	0	0.008871	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555308	44555308	+	Silent	SNP	C	C	T	rs144408880	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:44555308C>T	ENST00000330682.2	-	1	1141	c.906G>A	c.(904-906)gcG>gcA	p.A302A	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.A302A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGAGCGCTGGCGCGGAGAGTG	0.632000													12	286					0	0	0.001855	0	0
PAK7	57144	broad.mit.edu	37	20	9546694	9546694	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:9546694C>T	ENST00000378429.3	-	6	1874	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	PAK7_ENST00000378423.1_Missense_Mutation_p.G443E|PAK7_ENST00000353224.5_Missense_Mutation_p.G443E	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	443	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)			CCTGGGGTCTCCTGGGCTGAC	0.607000													12	33					0	0	0.001855	0	0
SAMD11	148398	broad.mit.edu	37	1	879474	879474	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:879474G>A	ENST00000342066.3	+	14	2070	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	663						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACCCAAGCAGGAGAATGGGAC	0.652000													10	64					0	0	0.006214	0	0
TRANK1	9881	broad.mit.edu	37	3	36898613	36898613	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:36898613C>T	ENST00000429976.2	-	12	2715	c.2468G>A	c.(2467-2469)gGa>gAa	p.G823E	TRANK1_ENST00000428977.2_Missense_Mutation_p.G273E|TRANK1_ENST00000301807.6_Missense_Mutation_p.G273E			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	823					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCGCCATTTCCCAGCTGCTG	0.512000													37	24					0	0	0.004878	0	0
COL11A1	1301	broad.mit.edu	37	1	103481270	103481270	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:103481270C>T	ENST00000358392.2	-	12	1795	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	COL11A1_ENST00000512756.1_Missense_Mutation_p.G365E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G442E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G481E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	481	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCATCAGCCCCTGGTAAGCC	0.348000													4	10					0	0	0.000602	0	0
TMEM214	54867	broad.mit.edu	37	2	27258870	27258870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:27258870C>T	ENST00000238788.9	+	5	732	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	TMEM214_ENST00000404032.3_Nonsense_Mutation_p.Q179*	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	224						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CATCTGTATCCAGGCCATCCT	0.517000													9	32					0	0	0.006214	0	0
ABCD2	225	broad.mit.edu	37	12	39973389	39973389	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:39973389G>A	ENST00000308666.3	-	8	1960	c.1825C>T	c.(1825-1827)Ctg>Ttg	p.L609L		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	609	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCTCCTGACAGGACATCTTTC	0.328000													35	59					0	0	0.008740	0	0
PXDNL	137902	broad.mit.edu	37	8	52336155	52336155	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:52336155T>G	ENST00000356297.4	-	14	1875	c.1775A>C	c.(1774-1776)aAc>aCc	p.N592T	PXDNL_ENST00000543296.1_Missense_Mutation_p.N592T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	592	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAGAAACATGTTGGTCACAGC	0.458000													3	21					0	0	0.004672	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153309709	153309709	+	Silent	SNP	G	G	A	rs140665438		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:153309709G>A	ENST00000368739.3	-	8	1237	c.879C>T	c.(877-879)acC>acT	p.T293T	PGLYRP4_ENST00000359650.5_Silent_p.T297T			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	297	Interaction with murein.				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGTAGCCAGGGGTGGAGGAGC	0.542000													22	18					0	0	0.001882	0	0
KMT2D	8085	broad.mit.edu	37	12	49422739	49422739	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:49422739A>T	ENST00000301067.7	-	45	14253	c.14254T>A	c.(14254-14256)Ttc>Atc	p.F4752I		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTATCTGGGAAGACTGAATGA	0.547000													24	149					0	0	0.007291	0	0
CDH23	64072	broad.mit.edu	37	10	73453962	73453962	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:73453962C>T	ENST00000224721.6	+	20	2255	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	CDH23_ENST00000299366.7_Silent_p.I790I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	745	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACATCCTCATCGTTCGCGCAG	0.632000													6	15					0	0	0.003080	0	0
CRYGN	155051	broad.mit.edu	37	7	151133346	151133346	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:151133346G>A	ENST00000337323.2	-	3	462	c.336C>T	c.(334-336)ttC>ttT	p.F112F	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	112	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCCTCCAGGAACTCCAGGC	0.562000													19	11					0	0	0.007413	0	0
GNMT	27232	broad.mit.edu	37	6	42930850	42930850	+	Silent	SNP	G	G	A	rs149792195		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:42930850G>A	ENST00000372808.3	+	4	502	c.492G>A	c.(490-492)gcG>gcA	p.A164A		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	164					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	AAAACATTGCGAGCATGGTGC	0.592000													22	64					0	0	0.003954	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76073154	76073154	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:76073154G>A	ENST00000395215.3	+	0	443																											CATTGGAAAAGGCAGACTTGA	0.473000													22	110					0	0	0.004656	0	0
ITGAV	3685	broad.mit.edu	37	2	187533579	187533579	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:187533579C>T	ENST00000261023.3	+	25	2798	c.2524C>T	c.(2524-2526)Ctt>Ttt	p.L842F	ITGAV_ENST00000433736.2_Missense_Mutation_p.L796F|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.L806F|ITGAV_ENST00000474571.1_3'UTR	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	842					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GTTGTATATCCTTCATTATGA	0.363000													14	52					0	0	0.002450	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519159	113519159	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:113519159C>T	ENST00000284601.3	-	4	2056	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	663					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTGATTTTCCCTGACTTTC	0.363000													57	37					0	0	0.003610	0	0
DIP2C	22982	broad.mit.edu	37	10	329246	329246	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:329246G>A	ENST00000280886.6	-	35	4347	c.4260C>T	c.(4258-4260)ttC>ttT	p.F1420F		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1420						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCTCCGCAGGAACCCCAAGT	0.547000													33	35					0	0	0.004289	0	0
NLRP13	126204	broad.mit.edu	37	19	56423089	56423089	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56423089C>T	ENST00000588751.1	-	5	2118	c.2094G>A	c.(2092-2094)agG>agA	p.R698R	NLRP13_ENST00000342929.3_Silent_p.R698R			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	698							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTTCCAAGTCCCTTTCAAGGA	0.398000													29	18					0	0	0.003755	0	0
CCDC141	285025	broad.mit.edu	37	2	179736979	179736979	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179736979C>T	ENST00000420890.2	-	13	2077	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E79K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	79							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTGGTTTTCCATGGTGTTC	0.423000													21	26					0	0	0.002299	0	0
FAM49B	51571	broad.mit.edu	37	8	130891648	130891648	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:130891648G>A	ENST00000519824.2	-	3	333	c.60C>T	c.(58-60)ttC>ttT	p.F20F	FAM49B_ENST00000523509.1_Silent_p.F20F|FAM49B_ENST00000401979.2_Silent_p.F20F|FAM49B_ENST00000519540.1_Silent_p.F20F|FAM49B_ENST00000522250.1_Intron|FAM49B_ENST00000519110.1_Silent_p.F20F|FAM49B_ENST00000522941.1_Intron|FAM49B_ENST00000522746.1_Silent_p.F20F|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000517654.1_Silent_p.F20F	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	20										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CAAAATCAAGGAAAAAATTTG	0.373000													15	28					0	0	0.003163	0	0
GRM3	2913	broad.mit.edu	37	7	86394825	86394825	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:86394825G>A	ENST00000361669.2	+	2	1463	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E122K|GRM3_ENST00000394720.2_Missense_Mutation_p.E120K|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	122					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAAAGTGGATGAAGCTGAGTA	0.433000													15	66					0	0	0.004007	0	0
PCDH15	65217	broad.mit.edu	37	10	55569295	55569295	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:55569295C>T	ENST00000395438.1	-	36	4959	c.4565G>A	c.(4564-4566)aGa>aAa	p.R1522K	PCDH15_ENST00000395446.1_Silent_p.K701K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1133K|PCDH15_ENST00000395440.1_Silent_p.K439K|PCDH15_ENST00000395445.1_Silent_p.K1505K|PCDH15_ENST00000395442.1_Silent_p.K370K|PCDH15_ENST00000414778.1_Intron	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTAATTTTCTTTGGCTCTT	0.403000										HNSCC(58;0.16)			36	107					0	0	0.005524	0	0
GPR158	57512	broad.mit.edu	37	10	25464844	25464844	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:25464844G>A	ENST00000376351.3	+	1	854	c.495G>A	c.(493-495)ctG>ctA	p.L165L	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	165						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGCCTTCTGGAGGGCGAGC	0.637000													6	35					0	0	0.001984	0	0
LTBP2	4053	broad.mit.edu	37	14	74972753	74972753	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:74972753C>T	ENST00000261978.4	-	28	4561	c.4175G>A	c.(4174-4176)gGa>gAa	p.G1392E	LTBP2_ENST00000556690.1_Missense_Mutation_p.G1348E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1392					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCCTCACCTCCAGCCCCCCG	0.627000													25	17					0	0	0.006320	0	0
PTPRN2	5799	broad.mit.edu	37	7	157874027	157874027	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:157874027G>A	ENST00000389413.3	-	10	1702	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V	PTPRN2_ENST00000409483.1_Silent_p.V524V|PTPRN2_ENST00000404321.2_Silent_p.V585V|PTPRN2_ENST00000389416.4_Silent_p.V545V|PTPRN2_ENST00000389418.4_Silent_p.V562V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	562						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCACGTTTTGGACATTGGCGC	0.517000													36	34					0	0	0.008740	0	0
PLCH1	23007	broad.mit.edu	37	3	155314033	155314033	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:155314033C>T	ENST00000460012.1	-	3	481	c.124G>A	c.(124-126)Gag>Aag	p.E42K	PLCH1_ENST00000494598.1_Missense_Mutation_p.E60K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E42K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E60K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E42K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E60K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	60	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGCCTTCTCACTCTTCCTA	0.483000													46	139					0	0	0.003610	0	0
MROH9	80133	broad.mit.edu	37	1	170961428	170961428	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:170961428G>A	ENST00000367759.4	+	12	1306	c.1152G>A	c.(1150-1152)ggG>ggA	p.G384G	MROH9_ENST00000367758.3_Silent_p.G384G	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TAACGGAAGGGAAACGTTTCT	0.458000													24	44					0	0	0.006320	0	0
SLC2A5	6518	broad.mit.edu	37	1	9097825	9097825	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:9097825G>A	ENST00000377424.4	-	12	1505	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	SLC2A5_ENST00000536305.1_Silent_p.F383F|SLC2A5_ENST00000535586.1_Silent_p.F327F	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	442					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGACAATGAAGCTGTACG	0.572000													15	42					0	0	0.003163	0	0
GPR27	2850	broad.mit.edu	37	3	71804275	71804275	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:71804275C>T	ENST00000304411.2	+	1	1075	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	359						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CTGCCAGAGCCCCCGGACCAC	0.642000													4	5					0	0	0.000248	0	0
GGT1	2678	broad.mit.edu	37	22	25019109	25019109	+	Missense_Mutation	SNP	C	C	A	rs113647199		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:25019109C>A	ENST00000400382.1	+	10	1524	c.769C>A	c.(769-771)Cgt>Agt	p.R257S	GGT1_ENST00000406383.2_Missense_Mutation_p.R257S|GGT1_ENST00000400383.1_Missense_Mutation_p.R257S|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Missense_Mutation_p.R257S|GGT1_ENST00000248923.4_Missense_Mutation_p.R257S			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	257					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GAACAACTACCGTGCTGAGCT	0.627000													4	30					0.00116845	0.00178273	0.001168	1	0
TULP4	56995	broad.mit.edu	37	6	158924506	158924506	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:158924506C>T	ENST00000367097.3	+	13	5168	c.3811C>T	c.(3811-3813)Ccc>Tcc	p.P1271S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1271					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGCCTGCCCGCCCATGCAGAA	0.627000													26	14					0	0	0.006320	0	0
CACNA1C	775	broad.mit.edu	37	12	2676850	2676850	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:2676850C>T	ENST00000399655.1	+	13	2050	c.1785C>T	c.(1783-1785)gtC>gtT	p.V595V	CACNA1C_ENST00000399603.1_Silent_p.V595V|CACNA1C_ENST00000406454.3_Silent_p.V595V|CACNA1C_ENST00000399617.1_Silent_p.V595V|CACNA1C_ENST00000399591.1_Silent_p.V595V|CACNA1C_ENST00000335762.5_Silent_p.V620V|CACNA1C_ENST00000399606.1_Silent_p.V595V|CACNA1C_ENST00000327702.7_Silent_p.V595V|CACNA1C_ENST00000480911.1_Silent_p.V595V|CACNA1C_ENST00000402845.3_Silent_p.V595V|CACNA1C_ENST00000399641.1_Silent_p.V595V|CACNA1C_ENST00000399644.1_Silent_p.V595V|CACNA1C_ENST00000399637.1_Silent_p.V595V|CACNA1C_ENST00000399595.1_Silent_p.V595V|CACNA1C_ENST00000347598.4_Silent_p.V595V|CACNA1C_ENST00000399638.1_Silent_p.V595V|CACNA1C_ENST00000399601.1_Silent_p.V595V|CACNA1C_ENST00000399597.1_Silent_p.V595V|CACNA1C_ENST00000399649.1_Silent_p.V595V|CACNA1C_ENST00000399629.1_Silent_p.V595V|CACNA1C_ENST00000399634.1_Silent_p.V595V|CACNA1C_ENST00000344100.3_Silent_p.V595V|CACNA1C_ENST00000399621.1_Silent_p.V595V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	595					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACTGCTTCGTCGTGTGTGGCG	0.592000													8	6					0	0	0.003080	0	0
FAT3	120114	broad.mit.edu	37	11	92085391	92085391	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:92085391C>T	ENST00000298047.6	+	1	130	c.113C>T	c.(112-114)cCc>cTc	p.P38L	FAT3_ENST00000409404.2_Missense_Mutation_p.P38L|FAT3_ENST00000541502.1_Missense_Mutation_p.P38L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	38					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)				GGGACTGGACCCCTGGGCTTC	0.547000										TCGA Ovarian(4;0.039)			202	156					0	0	0.003610	0	0
CCDC81	60494	broad.mit.edu	37	11	86119298	86119298	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:86119298C>T	ENST00000445632.2	+	9	1371	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F	CCDC81_ENST00000278487.3_Intron|CCDC81_ENST00000354755.1_Missense_Mutation_p.L277F|CCDC81_ENST00000528728.1_Intron	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	367										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCAGGAGGCTCTCTTCAGACA	0.378000													14	5					0	0	0.007413	0	0
CYP39A1	51302	broad.mit.edu	37	6	46563780	46563780	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:46563780G>A	ENST00000275016.2	-	8	1212	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	337					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GCTTTTAAACGAATGGTTTCC	0.338000													53	51					0	0	0.003610	0	0
GREB1	9687	broad.mit.edu	37	2	11732965	11732965	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:11732965C>T	ENST00000381486.2	+	11	1709	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L	GREB1_ENST00000234142.5_Missense_Mutation_p.S470L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	470						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGGCGCGAGTCGCACCTGACC	0.711000													6	11					0	0	0.003080	0	0
PDE1C	5137	broad.mit.edu	37	7	31918775	31918775	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:31918775C>T	ENST00000396184.3	-	5	463	c.259G>A	c.(259-261)Gag>Aag	p.E87K	PDE1C_ENST00000396191.1_Missense_Mutation_p.E87K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E87K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E87K|PDE1C_ENST00000396193.1_Missense_Mutation_p.E147K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	87					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTCATCCTCTGTATCCAGG	0.522000													11	31					0	0	0.000978	0	0
GBF1	8729	broad.mit.edu	37	10	104139304	104139304	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:104139304C>G	ENST00000369983.3	+	35	4929	c.4669C>G	c.(4669-4671)Cgg>Ggg	p.R1557G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1557					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCGATGCCCGGCGCCAGGT	0.552000													43	44					0	0	0.003610	0	0
OSBPL6	114880	broad.mit.edu	37	2	179214106	179214106	+	Silent	SNP	C	C	T	rs139699722		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179214106C>T	ENST00000190611.4	+	12	1519	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	OSBPL6_ENST00000409631.1_Silent_p.I381I|OSBPL6_ENST00000357080.4_Silent_p.I350I|OSBPL6_ENST00000315022.2_Silent_p.I385I|OSBPL6_ENST00000392505.2_Silent_p.I406I|OSBPL6_ENST00000409045.3_Silent_p.I350I|OSBPL6_ENST00000359685.3_Silent_p.I381I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	381					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTTGTCTAATCGCACAGAAAG	0.368000													8	44					0	0	0.003080	0	0
SLC17A4	10050	broad.mit.edu	37	6	25762227	25762227	+	Missense_Mutation	SNP	G	G	A	rs143424660	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:25762227G>A	ENST00000377905.4	+	2	156	c.37G>A	c.(37-39)Gac>Aac	p.D13N	SLC17A4_ENST00000439485.2_Missense_Mutation_p.D13N|SLC17A4_ENST00000397076.2_5'UTR	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	13					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TACAGTGGGGGACATTTCCAG	0.398000													19	52					0	0	0.001882	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610066	47610066	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:47610066G>A	ENST00000371890.3	+	6	709	c.673G>A	c.(673-675)Gga>Aga	p.G225R	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.K276K|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371891.3_Silent_p.K276K			Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	0				N -> S (in Ref. 2; AAQ21368).		endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACTACAGAAGGAGGGGGAGC	0.532000													25	52					0	0	0.003755	0	0
FGFR4	2264	broad.mit.edu	37	5	176522568	176522568	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:176522568G>A	ENST00000292408.4	+	13	1910	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K	FGFR4_ENST00000292410.3_Silent_p.K515K|FGFR4_ENST00000393637.1_Silent_p.K515K|FGFR4_ENST00000393648.2_Silent_p.K487K|FGFR4_ENST00000502906.1_Silent_p.K555K	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	555	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCGCCGCCAAGGGAAACCTGC	0.706000										TSP Lung(9;0.080)			5	7					0	0	0.000602	0	0
CACNA1G	8913	broad.mit.edu	37	17	48674270	48674270	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:48674270G>A	ENST00000352832.5	+	15	3547	c.3175G>A	c.(3175-3177)Gag>Aag	p.E1059K	CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1059K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1082K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1059K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1059K|CACNA1G_ENST00000416767.4_Missense_Mutation_p.E1082K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1082K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1059K|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E1082K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1082K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1059K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1059K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1059K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1082K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1082K	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1082					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCGGCCCACGAGATGAAGTC	0.682000													5	0					0	0	0.001168	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535151	96535151	+	Silent	SNP	C	C	T	rs5030781		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96535151C>T	ENST00000371321.3	+	3	418	c.336C>T	c.(334-336)atC>atT	p.I112I	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	112					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGTTAGGAATCGTTTTCAGCA	0.532000													6	40					0	0	0.003080	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272336	186272336	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:186272336G>A	ENST00000424280.1	-	6	1730	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A	TBCCD1_ENST00000446782.1_Silent_p.A321A|TBCCD1_ENST00000338733.5_Silent_p.A417A	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	417	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TATGAAAAGGGGCAAAAGTTA	0.473000													11	28					0	0	0.000978	0	0
SPEF2	79925	broad.mit.edu	37	5	35771819	35771819	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:35771819G>A	ENST00000440995.2	+	27	3895	c.3895G>A	c.(3895-3897)Gag>Aag	p.E1299K	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.E1304K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1304					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.E1304*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTCAAAAAGGAGCCACCCAA	0.403000													11	24					0	0	0.000978	0	0
ADAM11	4185	broad.mit.edu	37	17	42847128	42847128	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:42847128A>C	ENST00000200557.6	+	3	449	c.280A>C	c.(280-282)Aac>Cac	p.N94H	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	94					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCCAGCCTTCAACTCAAACTT	0.637000													53	70					0	0	0.003610	0	0
MYF5	4617	broad.mit.edu	37	12	81112674	81112674	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:81112674G>A	ENST00000228644.3	+	3	764	c.612G>A	c.(610-612)ttG>ttA	p.L204L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	204					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TATCCAGCTTGGATTGCTTAT	0.438000													58	43					0	0	0.003610	0	0
MAP3K1	4214	broad.mit.edu	37	5	56174881	56174881	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:56174881C>T	ENST00000399503.3	+	11	2040	c.2040C>T	c.(2038-2040)ctC>ctT	p.L680L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	680					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGAGACTTCTCCAGCCAGTTG	0.413000													26	15					0	0	0.005443	0	0
ZNF609	23060	broad.mit.edu	37	15	64968300	64968300	+	Silent	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:64968300T>C	ENST00000326648.3	+	4	3375	c.3247T>C	c.(3247-3249)Tta>Cta	p.L1083L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1083						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATTCCCAAGTTAGATGACTC	0.572000													13	44					0	0	0.002450	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773266	140773266	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:140773266G>A	ENST00000398604.2	+	1	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCTTAATGAAAATACTGG	0.388000													49	15					0	0	0.003610	0	0
SDK1	221935	broad.mit.edu	37	7	4116724	4116724	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:4116724C>T	ENST00000404826.2	+	21	3244	c.3105C>T	c.(3103-3105)ctC>ctT	p.L1035L	SDK1_ENST00000389531.3_Silent_p.L1035L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1035	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCAAGGCCTCTCATCTCTCA	0.572000													12	35					0	0	0.002450	0	0
GPR155	151556	broad.mit.edu	37	2	175300867	175300867	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:175300867G>A	ENST00000392552.2	-	16	2828	c.2590C>T	c.(2590-2592)Ccc>Tcc	p.P864S	GPR155_ENST00000295500.4_Missense_Mutation_p.P864S|GPR155_ENST00000392551.2_Missense_Mutation_p.P864S	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	864					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GAATGTGAGGGTGGGGATGAA	0.423000													9	32					0	0	0.006214	0	0
PAH	5053	broad.mit.edu	37	12	103234196	103234196	+	Silent	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:103234196A>G	ENST00000553106.1	-	12	1769	c.1297T>C	c.(1297-1299)Ttg>Ctg	p.L433L	PAH_ENST00000307000.2_Silent_p.L428L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	433					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAATCAGCCAAAATCTTAAGC	0.453000													8	42					0	0	0.004482	0	0
FRG2B	441581	broad.mit.edu	37	10	135439024	135439024	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:135439024T>A	ENST00000443774.1	-	4	468	c.419A>T	c.(418-420)gAg>gTg	p.E140V	FRG2B_ENST00000425520.1_Missense_Mutation_p.E139V			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	139						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATCACAGGTCTCCTGGATTTC	0.522000													23	69					0	0	0.001882	0	0
DNER	92737	broad.mit.edu	37	2	230341907	230341907	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:230341907C>T	ENST00000341772.4	-	7	1344	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	404	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.G404R(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CATGTTGCTCCATTTCTGCAT	0.358000													13	37					0	0	0.007413	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:13029765G>A	ENST00000399002.2	+	2	564	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000													8	20					0	0	0.003080	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870456	51870456	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:51870456G>A	ENST00000371497.5	+	2	1346	c.459G>A	c.(457-459)agG>agA	p.R153R	TSHZ2_ENST00000329613.6_Silent_p.R150R|TSHZ2_ENST00000603338.2_Silent_p.R150R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	153					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTGAGAGGAGGAACTGTGACA	0.522000													28	58					0	0	0.002445	0	0
KCNH2	3757	broad.mit.edu	37	7	150647448	150647448	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150647448G>A	ENST00000392968.2	-	7	3038	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	KCNH2_ENST00000430723.3_Silent_p.L736L|KCNH2_ENST00000330883.4_Silent_p.L396L|KCNH2_ENST00000262186.5_Silent_p.L736L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	736			F -> L (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGCTGCAGCAGTGAGCGGTTC	0.647000													46	24					0	0	0.003610	0	0
ANO1	55107	broad.mit.edu	37	11	69972296	69972296	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:69972296C>T	ENST00000355303.5	+	10	1397	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	ANO1_ENST00000530676.1_Silent_p.I248I|ANO1_ENST00000538023.1_Silent_p.I364I|ANO1_ENST00000531349.1_Silent_p.I99I|ANO1_ENST00000316296.5_Silent_p.I336I|ANO1_ENST00000398543.2_Silent_p.I248I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	364					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ATGAAAACATCCCCAGGTAGG	0.602000													10	8					0	0	0.006214	0	0
OR56B4	196335	broad.mit.edu	37	11	6129686	6129686	+	Silent	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:6129686A>G	ENST00000316529.3	+	1	773	c.678A>G	c.(676-678)gtA>gtG	p.V226V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTATGCTGTAATCCTTCACT	0.473000													36	24					0	0	0.004289	0	0
ZNF335	63925	broad.mit.edu	37	20	44598277	44598277	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:44598277G>A	ENST00000322927.2	-	3	355	c.255C>T	c.(253-255)ctC>ctT	p.L85L	ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGAATCAGGGAGGTAGCTAT	0.582000											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	112					0	0	0.002445	0	0
FTCD	10841	broad.mit.edu	37	21	47574148	47574148	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:47574148G>A	ENST00000397748.1	-	2	196	c.153C>T	c.(151-153)ttC>ttT	p.F51F	FTCD_ENST00000397743.1_Silent_p.F51F|FTCD_ENST00000359679.2_Silent_p.F51F|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Silent_p.F51F|FTCD_ENST00000397746.3_Silent_p.F51F|FTCD_ENST00000355384.2_Silent_p.F51F			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	51	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCGGCCCCACGAAGGTGTACA	0.657000													16	22					0	0	0.006122	0	0
NEK8	284086	broad.mit.edu	37	17	27064839	27064839	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:27064839A>T	ENST00000268766.6	+	7	926	c.892A>T	c.(892-894)Atc>Ttc	p.I298F	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	298						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ACCTGCAGGTATCCCCCGGGG	0.617000													37	31					0	0	0.002852	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587941	68587941	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:68587941G>A	ENST00000478136.1	+	4	784	c.294G>A	c.(292-294)atG>atA	p.M98I	FAM19A1_ENST00000496687.1_Missense_Mutation_p.M98I	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	98						endoplasmic reticulum|extracellular region		p.M98I(2)		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)		GGTGTGAGATGGAGCCTTGCC	0.458000													30	12					0	0	0.003755	0	0
ADAM28	10863	broad.mit.edu	37	8	24170910	24170910	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:24170910C>T	ENST00000265769.4	+	6	503	c.393C>T	c.(391-393)ttC>ttT	p.F131F	ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_Intron|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Silent_p.F131F|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	131					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGGGCTACTTCAGTCAGGGGG	0.378000													13	17					0	0	0.004007	0	0
IL16	3603	broad.mit.edu	37	15	81585006	81585006	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:81585006C>T	ENST00000394660.2	+	12	1890	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S	IL16_ENST00000302987.4_Silent_p.S510S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	510					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGATCCGCTCCAGCAGTGACA	0.617000													6	31					0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13916470	13916470	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:13916470G>A	ENST00000265104.4	-	9	1288	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	395	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACAAACAGAGATGTGATCTT	0.318000									Kartagener syndrome				21	10					0	0	0.001523	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72953609	72953609	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:72953609C>T	ENST00000421285.3	+	8	569	c.569C>T	c.(568-570)tCg>tTg	p.S190L		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	190										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ATCCAGTCCTCGAGCTGCAGA	0.562000													11	97					0	0	0.000978	0	0
KAT6A	7994	broad.mit.edu	37	8	41801328	41801328	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:41801328G>A	ENST00000396930.3	-	14	2709	c.2166C>T	c.(2164-2166)atC>atT	p.I722I	KAT6A_ENST00000485568.1_Silent_p.I722I|KAT6A_ENST00000406337.1_Silent_p.I722I|KAT6A_ENST00000265713.2_Silent_p.I722I	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	722	Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CTTGAGGGCAGATTCCAGTCA	0.403000													12	58					0	0	0.002450	0	0
HECW1	23072	broad.mit.edu	37	7	43591895	43591895	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:43591895C>T	ENST00000395891.1	+	28	5075	c.4470C>T	c.(4468-4470)atC>atT	p.I1490I	HECW1_ENST00000453890.1_Silent_p.I1456I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1490	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCGCGGAAATCGACCTAAATG	0.512000													13	93					0	0	0.002450	0	0
CACNG2	10369	broad.mit.edu	37	22	36960623	36960623	+	Silent	SNP	G	G	A	rs1065089		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:36960623G>A	ENST00000300105.6	-	4	1728	c.747C>T	c.(745-747)tcC>tcT	p.S249S		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	249					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGGCGTCCCTGGAGTGTGAGG	0.677000													67	78					0	0	0.003610	0	0
SLC29A4	222962	broad.mit.edu	37	7	5330756	5330756	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:5330756G>A	ENST00000396872.2	+	4	464	c.301_splice	c.e4-1	p.G101_splice	SLC29A4_ENST00000406453.3_Splice_Site_p.G101_splice|SLC29A4_ENST00000297195.4_Splice_Site_p.G101_splice	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	101					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCTCTGCAGGGACCTCCATCG	0.622000													29	24					0	0	0.001786	0	0
C10orf71	118461	broad.mit.edu	37	10	50531556	50531556	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:50531556C>T	ENST00000374144.3	+	3	1254	c.966C>T	c.(964-966)gtC>gtT	p.V322V	C10orf71_ENST00000323868.4_Silent_p.V322V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	322										endometrium(1)	1						AGCGCACAGTCTCTCCCTGCC	0.582000													9	30					0	0	0.004482	0	0
NCOR1	9611	broad.mit.edu	37	17	15983350	15983350	+	Silent	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:15983350A>G	ENST00000268712.3	-	26	3686	c.3429T>C	c.(3427-3429)agT>agC	p.S1143S	NCOR1_ENST00000395851.1_Silent_p.S1159S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1143	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCCGAGTTATACTTCCTTCTT	0.463000													27	20					0	0	0.002445	0	0
ABCB8	11194	broad.mit.edu	37	7	150732715	150732715	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150732715C>T	ENST00000358849.4	+	6	906	c.813C>T	c.(811-813)tcC>tcT	p.S271S	ABCB8_ENST00000356058.4_Silent_p.S308S|ABCB8_ENST00000542328.1_Silent_p.S183S|ABCB8_ENST00000477719.1_Silent_p.S271S|ABCB8_ENST00000297504.6_Silent_p.S288S|ABCB8_ENST00000498578.1_Silent_p.S271S|ABCB8_ENST00000477092.1_Silent_p.S271S	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	288	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCCCTGTCCATGCTGTCGA	0.657000													44	30					0	0	0.008740	0	0
MMP11	4320	broad.mit.edu	37	22	24125724	24125724	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:24125724T>C	ENST00000215743.3	+	8	1512	c.1460T>C	c.(1459-1461)tTc>tCc	p.F487S	AP000349.1_ENST00000598975.1_Missense_Mutation_p.E141G	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	487					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GCCAACACTTTCCTCTGACCA	0.587000													25	45					0	0	0.001786	0	0
HLA-C	3107	broad.mit.edu	37	6	31237825	31237825	+	Silent	SNP	G	G	A	rs45486697		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31237825G>A	ENST00000383329.3	-	5	947	c.933C>T	c.(931-933)atC>atT	p.I311I	HLA-C_ENST00000376228.5_Silent_p.I311I			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	311					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGCCAGCAACGATGCCCATGA	0.607000													23	30					0	0	0.002780	0	0
ALLC	55821	broad.mit.edu	37	2	3726102	3726102	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:3726102G>A	ENST00000252505.3	+	4	291	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	62							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGGAGTTTGGGAAATGGATGG	0.463000										HNSCC(21;0.051)			9	26					0	0	0.006214	0	0
TRANK1	9881	broad.mit.edu	37	3	36879994	36879994	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:36879994C>T	ENST00000429976.2	-	19	5501	c.5252_splice	c.e19-1	p.E1752_splice	TRANK1_ENST00000428977.2_Splice_Site_p.E1202_splice|TRANK1_ENST00000301807.6_Splice_Site_p.E1202_splice			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1752					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AACTGCTTTTCCCTAGGGGAA	0.438000													18	12					0	0	0.007413	0	0
MUS81	80198	broad.mit.edu	37	11	65632505	65632505	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:65632505C>T	ENST00000308110.4	+	13	1639	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	MUS81_ENST00000533035.1_Silent_p.S355S	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	430					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CCCTACGCAGCCGCCCCTGGG	0.637000								Homologous recombination					35	23					0	0	0.003755	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47635467	47635467	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:47635467C>T	ENST00000371917.4	+	34	4556	c.4556C>T	c.(4555-4557)cCc>cTc	p.P1519L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1519					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)			GATAAAAATCCCTCTGAGAGG	0.423000													12	35					0	0	0.001855	0	0
CYP2C18	1562	broad.mit.edu	37	10	96484284	96484284	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96484284C>T	ENST00000285979.6	+	7	1342	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	CYP2C18_ENST00000339022.5_Silent_p.I322I|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		ACTACCTCATCCCCAAGGTAA	0.458000													12	66					0	0	0.002450	0	0
ITGAX	3687	broad.mit.edu	37	16	31391661	31391661	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:31391661C>T	ENST00000268296.4	+	27	3256	c.3135C>T	c.(3133-3135)ttC>ttT	p.F1045F	ITGAX_ENST00000562522.1_Silent_p.F1045F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1045					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGCTGGATTTCACCCTGAAGG	0.632000													7	12					0	0	0.003080	0	0
RPE65	6121	broad.mit.edu	37	1	68912463	68912463	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:68912463G>A	ENST00000262340.5	-	3	228	c.175C>T	c.(175-177)Cac>Tac	p.H59Y		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	59					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCAAACAGGTGGTAAAATGGC	0.527000													30	27					0	0	0.008361	0	0
USP26	83844	broad.mit.edu	37	X	132160571	132160571	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:132160571G>A	ENST00000511190.1	-	6	2147	c.1678C>T	c.(1678-1680)Ccc>Tcc	p.P560S	USP26_ENST00000406273.1_Missense_Mutation_p.P560S|USP26_ENST00000370832.1_Missense_Mutation_p.P560S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	560					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)					TCACTCAAGGGAAGAGGTGGT	0.378000													26	20					0	0	0.003330	0	0
BCL9L	283149	broad.mit.edu	37	11	118770160	118770160	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:118770160G>A	ENST00000334801.3	-	8	4428	c.3464C>T	c.(3463-3465)cCt>cTt	p.P1155L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1155	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CATGCCCATAGGGCTCTGGGC	0.652000													8	3					0	0	0.000978	0	0
PYGO1	26108	broad.mit.edu	37	15	55838929	55838929	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:55838929G>A	ENST00000302000.6	-	3	646	c.552C>T	c.(550-552)ttC>ttT	p.F184F	PYGO1_ENST00000563719.1_Silent_p.F184F	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	184	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GAATTTGACTGAAATTTTCAG	0.333000													11	66					0	0	0.000978	0	0
GPR98	84059	broad.mit.edu	37	5	90074720	90074720	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:90074720C>T	ENST00000405460.2	+	64	12984	c.12888C>T	c.(12886-12888)ggC>ggT	p.G4296G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4296					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)		GAGATTTTGGCCATGTGCGAC	0.458000													49	24					0	0	0.003610	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397640	42397640	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:42397640G>A	ENST00000225308.8	-	11	1038	c.864C>T	c.(862-864)aaC>aaT	p.N288N	SLC25A39_ENST00000586016.1_Silent_p.N164N|SLC25A39_ENST00000377095.5_Silent_p.N296N|SLC25A39_ENST00000537904.2_Silent_p.N273N|SLC25A39_ENST00000590194.1_Silent_p.N288N	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	296					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CATGCAGGGGGTTCACTGCAA	0.657000													37	7					0	0	0.005524	0	0
RBM44	375316	broad.mit.edu	37	2	238726718	238726718	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:238726718G>A	ENST00000316997.4	+	3	1291	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.D387N	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	386							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CTCTGTTTTTGATGATTCGAT	0.403000													7	22					0	0	0.003080	0	0
ETV3L	440695	broad.mit.edu	37	1	157067719	157067719	+	Missense_Mutation	SNP	G	G	A	rs148705550	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:157067719G>A	ENST00000454449.2	-	4	832	c.548C>T	c.(547-549)aCc>aTc	p.T183I		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCCTCGGGGGGTCTGCTGTCC	0.622000													6	35					0	0	0.001168	0	0
PSD2	84249	broad.mit.edu	37	5	139193016	139193016	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:139193016G>A	ENST00000274710.3	+	3	699	c.494G>A	c.(493-495)aGc>aAc	p.S165N		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	165					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGCTGAGCCTCACGGAT	0.652000													21	10					0	0	0.001523	0	0
CCDC141	285025	broad.mit.edu	37	2	179720995	179720995	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179720995C>T	ENST00000420890.2	-	18	2971	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E377K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	377							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCATTTTTTCAGCATACATA	0.294000													32	31					0	0	0.004878	0	0
DNHD1	144132	broad.mit.edu	37	11	6588704	6588704	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:6588704G>A	ENST00000254579.6	+	36	12529	c.11965G>A	c.(11965-11967)Gaa>Aaa	p.E3989K	DNHD1_ENST00000527990.2_Missense_Mutation_p.E3989K	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3989					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGCCTGGCATGAATGTGAGAT	0.602000													5	4					0	0	0.001168	0	0
CLEC18C	283971	broad.mit.edu	37	16	70219787	70219787	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:70219787G>A	ENST00000569347.2	+	11	1465		c.e11-1		CLEC18C_ENST00000314151.8_Splice_Site|CLEC18C_ENST00000541793.2_Splice_Site|CLEC18C_ENST00000536907.2_Splice_Site	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						ATGGCCTGCAGGTTTGGCAAC	0.592000													15	25					0	0	0.001882	0	0
KDM6B	23135	broad.mit.edu	37	17	7750516	7750516	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:7750516C>T	ENST00000254846.5	+	10	1392	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	KDM6B_ENST00000448097.2_Missense_Mutation_p.P335S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	335	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GGCTGCTCCCCCAGGCCCAGG	0.692000													29	16					0	0	0.002445	0	0
TTN	7273	broad.mit.edu	37	2	179458165	179458165	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179458165T>A	ENST00000589042.1	-	299	58994	c.58770A>T	c.(58768-58770)gaA>gaT	p.E19590D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E17949D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10525D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10650D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10717D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17022D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17949	Ig-like 109.						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)			CTTTGGTAACTTCTGTAACAA	0.363000													24	20					0	0	0.003954	0	0
LILRA1	11024	broad.mit.edu	37	19	55106176	55106176	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55106176C>T	ENST00000453777.1	+	4	287	c.117C>T	c.(115-117)atC>atT	p.I39I	LILRA1_ENST00000251372.3_Silent_p.I39I|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	39	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCTCTGTGATCACCCAGGGGA	0.542000													28	16					0	0	0.008361	0	0
DSCAM	1826	broad.mit.edu	37	21	41719784	41719784	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:41719784C>T	ENST00000400454.1	-	6	1500	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	341	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTCCTGGTCCTCAGTTCCTG	0.493000													21	61					0	0	0.001523	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322954	79322954	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:79322954G>A	ENST00000428286.1	-	8	4359	c.3159C>T	c.(3157-3159)tcC>tcT	p.S1053S	PRUNE2_ENST00000376718.3_Silent_p.S1412S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1412					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCACATCACGGGAGTCTAGAT	0.448000													16	13					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179606404	179606404	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179606404C>T	ENST00000589042.1	-	48	11780	c.11556G>A	c.(11554-11556)caG>caA	p.Q3852Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.Q3535Q|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.Q3489Q|TTN_ENST00000359218.5_Silent_p.Q3614Q|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.Q3681Q|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3535							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)			TAAAGAACCACTGAATTTTAG	0.413000													33	44					0	0	0.003755	0	0
ABHD16A	7920	broad.mit.edu	37	6	31655432	31655432	+	Silent	SNP	G	G	A	rs141653752		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31655432G>A	ENST00000375842.4	-	18	1862	c.876C>T	c.(874-876)ttC>ttT	p.F292F	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000395952.3_Silent_p.F511F|ABHD16A_ENST00000440843.2_Silent_p.F478F			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	511						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CGCTCCAGGGGAAGTCGGGCC	0.597000													73	216					0	0	0.003610	0	0
RGS8	85397	broad.mit.edu	37	1	182617274	182617274	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:182617274C>T	ENST00000483095.2	-	6	615	c.358G>A	c.(358-360)Gag>Aag	p.E120K	RGS8_ENST00000367556.1_Missense_Mutation_p.E120K|RGS8_ENST00000258302.4_Missense_Mutation_p.E138K|RGS8_ENST00000367557.4_Missense_Mutation_p.E120K			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	120	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CAACACACCTCCCGTGGAGCC	0.527000													21	79					0	0	0.001882	0	0
ATF4	468	broad.mit.edu	37	22	39918330	39918330	+	Missense_Mutation	SNP	C	C	T	rs147899546		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:39918330C>T	ENST00000337304.2	+	2	1661	c.779C>T	c.(778-780)cCt>cTt	p.P260L	ATF4_ENST00000396680.1_Missense_Mutation_p.P260L|ATF4_ENST00000404241.2_Missense_Mutation_p.P260L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	260					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CGTCCCAAACCTTACGATCCT	0.517000													8	20					0	0	0.004482	0	0
NOX1	27035	broad.mit.edu	37	X	100125714	100125714	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:100125714G>A	ENST00000372966.3	-	2	340	c.135C>T	c.(133-135)atC>atT	p.I45I	NOX1_ENST00000372960.4_Silent_p.I45I|NOX1_ENST00000372964.1_Silent_p.I45I|NOX1_ENST00000217885.5_Silent_p.I45I	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	45					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TCACCCCAAGGATTTTTCTTG	0.418000													47	35					0	0	0.003610	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74714267	74714267	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:74714267C>T	ENST00000373032.3	-	1	269	c.177G>A	c.(175-177)ggG>ggA	p.G59G		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	59					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					CTCCATTCTTCCCTCCCAGCA	0.532000													38	136					0	0	0.007835	0	0
MME	4311	broad.mit.edu	37	3	154866386	154866386	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:154866386G>A	ENST00000460393.1	+	16	1665	c.1545G>A	c.(1543-1545)ttG>ttA	p.L515L	MME_ENST00000360490.2_Silent_p.L515L|MME_ENST00000493237.1_Silent_p.L515L|MME_ENST00000492661.1_Silent_p.L515L|MME_ENST00000462745.1_Silent_p.L515L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	515					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTCAAAATTTGAAATTCAGCC	0.328000													33	36					0	0	0.008740	0	0
ACSM1	116285	broad.mit.edu	37	16	20638540	20638540	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:20638540C>T	ENST00000219151.4	-	11	1561	c.351G>A	c.(349-351)ggG>ggA	p.G117G	ACSM1_ENST00000520010.1_Silent_p.G466G|ACSM1_ENST00000307493.4_Silent_p.G466G			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	466					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CATCACTCCTCCCCAGGAAAC	0.507000													102	106					0	0	0.003610	0	0
RFX7	64864	broad.mit.edu	37	15	56386044	56386044	+	Silent	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:56386044A>T	ENST00000423270.1	-	9	3881	c.3882T>A	c.(3880-3882)ccT>ccA	p.P1294P	RFX7_ENST00000422057.1_Silent_p.P1197P|RFX7_ENST00000559447.2_Silent_p.P1197P|RFX7_ENST00000317318.6_Silent_p.P1294P	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1197					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGTTGGCACTAGGAAAAACAG	0.423000													18	53					0	0	0.007413	0	0
NPAS3	64067	broad.mit.edu	37	14	33836419	33836419	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:33836419C>T	ENST00000346562.2	+	3	391	c.317C>T	c.(316-318)cCc>cTc	p.P106L	NPAS3_ENST00000356141.4_Missense_Mutation_p.P138L|NPAS3_ENST00000341321.4_Missense_Mutation_p.P138L|NPAS3_ENST00000551492.1_Missense_Mutation_p.P143L|NPAS3_ENST00000547068.1_Missense_Mutation_p.P34L|NPAS3_ENST00000551008.1_Missense_Mutation_p.P36L|NPAS3_ENST00000548645.1_Missense_Mutation_p.P108L|NPAS3_ENST00000357798.5_Missense_Mutation_p.P125L	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGGAGAAGCCCCAGTGCACTA	0.353000													11	10					0	0	0.001368	0	0
GIGYF2	26058	broad.mit.edu	37	2	233626129	233626129	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:233626129C>T	ENST00000373566.3	+	8	712	c.515C>T	c.(514-516)cCa>cTa	p.P172L	AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409547.1_Missense_Mutation_p.P172L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.P172L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.P172L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.P172L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.P172L			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	172	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTGAAAAACCAGGACGAAAA	0.383000													8	34					0	0	0.006214	0	0
NPAP1	23742	broad.mit.edu	37	15	24922328	24922328	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:24922328C>T	ENST00000329468.2	+	1	1788	c.1314C>T	c.(1312-1314)atC>atT	p.I438I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.I438I(1)									GACCCCTCATCCTGCCTATCC	0.537000													18	22					0	0	0.007413	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33535075	33535075	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:33535075C>T	ENST00000504830.1	-	23	4804	c.4469G>A	c.(4468-4470)gGc>gAc	p.G1490D	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1405D	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1490	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTCTGAAAGCCACCTCCACA	0.493000										HNSCC(64;0.19)			5	22					0	0	0.000602	0	0
MLC1	23209	broad.mit.edu	37	22	50523268	50523268	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:50523268G>A	ENST00000311597.5	-	2	670	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	MLC1_ENST00000431262.2_Missense_Mutation_p.R22W|MLC1_ENST00000535444.1_Intron|MLC1_ENST00000538737.1_Missense_Mutation_p.R22W|MLC1_ENST00000395876.2_Missense_Mutation_p.R22W|MLC1_ENST00000450140.2_Missense_Mutation_p.R22W	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	22						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GGGTCTTGCCGGCCCCGCTCC	0.637000													12	24					0	0	0.001368	0	0
FGR	2268	broad.mit.edu	37	1	27949640	27949640	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:27949640A>C	ENST00000374005.3	-	4	530	c.242T>G	c.(241-243)cTg>cGg	p.L81R	FGR_ENST00000399173.1_Missense_Mutation_p.L81R|FGR_ENST00000545953.1_Missense_Mutation_p.L81R|FGR_ENST00000374004.1_Missense_Mutation_p.L81R	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	81	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-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;1.25e-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)		GGCAATGAACAGGGTCACCCC	0.562000													22	16					0	0	0.002780	0	0
SSPO	23145	broad.mit.edu	37	7	149498885	149498885	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:149498885C>T	ENST00000378016.2	+	0	7337							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)			AGCACTGTGCCCTTCATGATG	0.597000													13	13					0	0	0.003163	0	0
SLIT1	6585	broad.mit.edu	37	10	98790526	98790526	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:98790526G>A	ENST00000266058.4	-	25	2815	c.2570C>T	c.(2569-2571)tCc>tTc	p.S857F	SLIT1_ENST00000371070.4_Missense_Mutation_p.S857F|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	857					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTGAGACAGGGAGGTCACGTC	0.542000													47	18					0	0	0.003610	0	0
GLI2	2736	broad.mit.edu	37	2	121746677	121746677	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:121746677C>T	ENST00000452319.1	+	14	3247	c.3187C>T	c.(3187-3189)Cca>Tca	p.P1063S	GLI2_ENST00000314490.11_Missense_Mutation_p.P735S|GLI2_ENST00000361492.4_Missense_Mutation_p.P1063S			P10070	GLI2_HUMAN	GLI family zinc finger 2	1063					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTGGTGCTTCCAGACGACGT	0.672000													15	34					0	0	0.008871	0	0
TLE4	7091	broad.mit.edu	37	9	82336705	82336705	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:82336705G>A	ENST00000376520.4	+	18	2812	c.1984G>A	c.(1984-1986)Gat>Aat	p.D662N	TLE4_ENST00000376534.4_Missense_Mutation_p.D267N|TLE4_ENST00000376537.4_Missense_Mutation_p.D662N|TLE4_ENST00000376544.3_Missense_Mutation_p.D561N|TLE4_ENST00000376552.2_Missense_Mutation_p.D630N|TLE4_ENST00000265284.6_Missense_Mutation_p.D605N			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATTTCTAATGATGGCACCAA	0.527000													20	9					0	0	0.002299	0	0
TTI1	9675	broad.mit.edu	37	20	36641014	36641014	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:36641014G>A	ENST00000373448.2	-	3	1443	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	TTI1_ENST00000373447.3_Missense_Mutation_p.S402F|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.S402F	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	402							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAGTAACAAGGAAAGAGTAGA	0.478000													28	114					0	0	0.002445	0	0
NPSR1	387129	broad.mit.edu	37	7	34884512	34884512	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:34884512G>A	ENST00000360581.1	+	7	890	c.762G>A	c.(760-762)ggG>ggA	p.G254G	NPSR1_ENST00000359791.1_Silent_p.G254G|NPSR1_ENST00000381539.3_Silent_p.G254G|NPSR1_ENST00000531252.1_Silent_p.G243G|NPSR1_ENST00000381542.1_Silent_p.G188G	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	254						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTACAGATGGGAAACTGTGCA	0.403000													7	35					0	0	0.003080	0	0
DPYS	1807	broad.mit.edu	37	8	105463515	105463515	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:105463515C>T	ENST00000351513.2	-	2	514	c.382G>A	c.(382-384)Gac>Aac	p.D128N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	128					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCTGTAGTCGCAGCAAACT	0.517000													26	24					0	0	0.006320	0	0
A2M	2	broad.mit.edu	37	12	9246161	9246161	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:9246161C>T	ENST00000318602.7	-	18	2447	c.2140G>A	c.(2140-2142)Gga>Aga	p.G714R		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	714	Bait region.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGGCCTCTTCCCATTACATCT	0.428000													12	6					0	0	0.002450	0	0
ITSN1	6453	broad.mit.edu	37	21	35260578	35260578	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:35260578G>A	ENST00000381318.3	+	40	5428	c.5140G>A	c.(5140-5142)Gac>Aac	p.D1714N	ITSN1_ENST00000437442.2_Missense_Mutation_p.D1653N|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1714N|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1709N	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1714					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGTCCGCTTGGACCTGCAGTT	0.572000													5	12					0	0	0.000602	0	0
FAM118A	55007	broad.mit.edu	37	22	45726532	45726532	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:45726532C>T	ENST00000216214.3	+	6	1405	c.571C>T	c.(571-573)Cac>Tac	p.H191Y	FAM118A_ENST00000405548.3_Missense_Mutation_p.H9Y|FAM118A_ENST00000441876.2_Missense_Mutation_p.H191Y	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	191						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCTCCACATTCACGGCCTCTA	0.522000													30	32					0	0	0.002445	0	0
SLC38A8	146167	broad.mit.edu	37	16	84065481	84065481	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:84065481G>A	ENST00000299709.3	-	4	622	c.623C>T	c.(622-624)cCt>cTt	p.P208L		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	208					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCAGTGAAGGATGGGACTC	0.627000													7	56					0	0	0.004482	0	0
LRRC14B	389257	broad.mit.edu	37	5	195035	195035	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:195035G>A	ENST00000328278.3	+	2	1140	c.1112G>A	c.(1111-1113)gGc>gAc	p.G371D		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	371										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GAGGAGTGTGGCATCGTAGAC	0.652000													9	7					0	0	0.006214	0	0
OSBPL6	114880	broad.mit.edu	37	2	179213955	179213955	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179213955C>T	ENST00000190611.4	+	12	1368	c.992C>T	c.(991-993)cCt>cTt	p.P331L	OSBPL6_ENST00000409631.1_Missense_Mutation_p.P331L|OSBPL6_ENST00000357080.4_Missense_Mutation_p.P300L|OSBPL6_ENST00000315022.2_Missense_Mutation_p.P335L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P356L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P300L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P331L	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	331					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTTCAGGTTCCTTTCAGTGCT	0.433000													59	44					0	0	0.003610	0	0
PDE4D	5144	broad.mit.edu	37	5	58287737	58287737	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:58287737C>A	ENST00000340635.6	-	8	1285	c.1110G>T	c.(1108-1110)ttG>ttT	p.L370F	PDE4D_ENST00000358923.6_Missense_Mutation_p.L68F|PDE4D_ENST00000360047.5_Missense_Mutation_p.L234F|PDE4D_ENST00000503258.1_Missense_Mutation_p.L240F|PDE4D_ENST00000317118.8_Missense_Mutation_p.L79F|PDE4D_ENST00000502484.2_Missense_Mutation_p.L309F|PDE4D_ENST00000546160.1_Missense_Mutation_p.L309F|PDE4D_ENST00000507116.1_Missense_Mutation_p.L306F|PDE4D_ENST00000405755.2_Missense_Mutation_p.L248F	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	370					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGCTGTGCATCAATTTCTTGA	0.388000													10	5					9.70103e-10	1.48769e-09	0.008291	1	0
TTC29	83894	broad.mit.edu	37	4	147824788	147824788	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:147824788C>T	ENST00000513335.1	-	7	771	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	TTC29_ENST00000398886.4_Missense_Mutation_p.R191Q|TTC29_ENST00000325106.4_Missense_Mutation_p.R165Q			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	165							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTTAAAACATCGTTCATAGAA	0.413000													20	23					0	0	0.008871	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3662421	3662421	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:3662421G>A	ENST00000452079.1	-	0	1465				TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1																						GCCTCCTCCGGGGAGCACCCT	0.617000													5	16					0	0	0.000602	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603469	111603469	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:111603469G>A	ENST00000431670.2	+	2	956	c.545G>A	c.(544-546)gGa>gAa	p.G182E	PHLDB2_ENST00000478922.1_Missense_Mutation_p.G182E|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G182E|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G182E|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G209E|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G182E|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G182E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	182						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATGTGGAATGGAAGTTCCCTG	0.537000													18	16					0	0	0.008871	0	0
MYO5C	55930	broad.mit.edu	37	15	52536688	52536688	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:52536688C>T	ENST00000261839.7	-	19	2416	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	752	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTTATCCAATCGAAGTTTCTC	0.418000													8	38					0	0	0.004482	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222098	140222098	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:140222098G>A	ENST00000531613.1	+	1	1192	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V398M	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAAGCTGGTGTCCACCTT	0.587000													73	40					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168103996	168103996	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:168103996C>T	ENST00000409195.1	+	9	6183	c.6094C>T	c.(6094-6096)Cgt>Tgt	p.R2032C	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2032C|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1810C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1857					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTCATAGATCGTGAACAAAA	0.388000													10	13					0	0	0.002450	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261132	62261132	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:62261132C>T	ENST00000416284.3	-	2	1659	c.75G>A	c.(73-75)ggG>ggA	p.G25G	FAM19A2_ENST00000551619.1_Silent_p.G25G|FAM19A2_ENST00000551449.1_Silent_p.G25G	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	25						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ATACAACTTTCCCCCACAAGG	0.303000													29	46					0	0	0.003755	0	0
MROH7	374977	broad.mit.edu	37	1	55148383	55148383	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:55148383C>T	ENST00000414150.2	+	14	2714	c.2436C>T	c.(2434-2436)gtC>gtT	p.V812V	MROH7_ENST00000545244.1_Silent_p.V380V|MROH7_ENST00000409996.1_Silent_p.V380V|MROH7_ENST00000421030.2_Silent_p.V812V|MROH7_ENST00000395690.2_Silent_p.V812V|MROH7_ENST00000339553.5_Silent_p.V812V|MROH7_ENST00000454855.2_Silent_p.V330V					maestro heat-like repeat family member 7																		GCTGTGATGTCCGAGACCTCC	0.612000													22	33					0	0	0.002780	0	0
LAMA5	3911	broad.mit.edu	37	20	60892007	60892007	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:60892007G>A	ENST00000252999.3	-	56	7650	c.7584C>T	c.(7582-7584)atC>atT	p.I2528I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2528	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCCTGCAGGATGCGGCTGT	0.687000													17	16					0	0	0.007413	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284431	130284431	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:130284431G>A	ENST00000257359.6	-	5	2267	c.1561C>T	c.(1561-1563)Ccc>Tcc	p.P521S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	521	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTCACCTTGGGCCTCTCCACT	0.612000													29	17					0	0	0.007291	0	0
ADAM29	11086	broad.mit.edu	37	4	175898159	175898159	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:175898159G>A	ENST00000359240.3	+	5	2153	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	ADAM29_ENST00000445694.1_Missense_Mutation_p.E495K|ADAM29_ENST00000404450.4_Missense_Mutation_p.E495K|ADAM29_ENST00000514159.1_Missense_Mutation_p.E495K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	495	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTACTGCTATGAAAAGAGCTG	0.453000													45	73					0	0	0.003610	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461778	85461778	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:85461778C>T	ENST00000394573.1	+	10	1021	c.819C>T	c.(817-819)ttC>ttT	p.F273F	SLC28A1_ENST00000538177.1_Silent_p.F273F|SLC28A1_ENST00000537216.1_Silent_p.F273F|SLC28A1_ENST00000537703.1_Silent_p.F195F|SLC28A1_ENST00000286749.3_Silent_p.F273F|SLC28A1_ENST00000537624.1_Silent_p.F273F	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	273					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.F273L(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGTCTTTTTCAGCTGTGTCA	0.597000													22	102					0	0	0.005443	0	0
ZNF799	90576	broad.mit.edu	37	19	12501354	12501354	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:12501354G>A	ENST00000419318.1	-	4	2511	c.1762C>T	c.(1762-1764)Ccg>Tcg	p.P588S	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.P620S			Q96GE5	ZN799_HUMAN	zinc finger protein 799	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CATCCATACGGGTTCTCTCCA	0.403000													52	31					0	0	0.003610	0	0
CRNN	49860	broad.mit.edu	37	1	152382337	152382337	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152382337C>T	ENST00000271835.3	-	3	1283	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	407					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTGCTTGCCCCAGTCTGGG	0.612000													26	24					0	0	0.003954	0	0
ALK	238	broad.mit.edu	37	2	29416472	29416472	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:29416472C>T	ENST00000389048.3	-	29	5387	c.4481G>A	c.(4480-4482)gGa>gAa	p.G1494E	ALK_ENST00000431873.1_Missense_Mutation_p.G324E	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1494					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTTTCTGGATCCGTGGACCTT	0.527000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				43	51					0	0	0.003610	0	0
DDR2	4921	broad.mit.edu	37	1	162725007	162725007	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:162725007T>C	ENST00000367922.2	+	7	917	c.479T>C	c.(478-480)gTa>gCa	p.V160A	DDR2_ENST00000367921.3_Missense_Mutation_p.V160A	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	160	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCGCCCATTGTAGCCAGATTT	0.488000													26	53					0	0	0.006320	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535195	96535195	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96535195C>T	ENST00000371321.3	+	3	462	c.380C>T	c.(379-381)tCc>tTc	p.S127F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	127					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CGGCGTTTCTCCCTCATGACG	0.507000													15	58					0	0	0.006122	0	0
LTBP1	4052	broad.mit.edu	37	2	33614277	33614277	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:33614277C>T	ENST00000404816.2	+	32	5091	c.4738C>T	c.(4738-4740)Ccc>Tcc	p.P1580S	LTBP1_ENST00000272273.5_Missense_Mutation_p.P478S|LTBP1_ENST00000407925.1_Missense_Mutation_p.P1254S|LTBP1_ENST00000404525.1_Missense_Mutation_p.P1201S|LTBP1_ENST00000418533.2_Missense_Mutation_p.P1212S|LTBP1_ENST00000402934.1_Missense_Mutation_p.P1199S|LTBP1_ENST00000354476.3_Missense_Mutation_p.P1581S|LTBP1_ENST00000390003.4_Missense_Mutation_p.P1255S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1580					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGTAACATCCCCGTGACGGG	0.567000													19	53					0	0	0.007413	0	0
NUTM1	256646	broad.mit.edu	37	15	34648565	34648565	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:34648565G>A	ENST00000537011.1	+	8	2738	c.2356G>A	c.(2356-2358)Ggc>Agc	p.G786S	NUTM1_ENST00000333756.4_Missense_Mutation_p.G758S|NUTM1_ENST00000438749.3_Missense_Mutation_p.G776S					NUT midline carcinoma, family member 1																		GTATCAGGAAGGCTGCCAGGG	0.542000													22	42					0	0	0.002299	0	0
ASTN2	23245	broad.mit.edu	37	9	119802190	119802190	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:119802190G>A	ENST00000313400.4	-	6	1431	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S393F|ASTN2_ENST00000373996.3_Missense_Mutation_p.S444F			O75129	ASTN2_HUMAN	astrotactin 2	444						integral to membrane		p.S393F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGATGCAGGAACTCACAGC	0.498000													15	8					0	0	0.002450	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841288	27841288	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:27841288C>T	ENST00000318304.8	+	25	2729	c.2446C>T	c.(2446-2448)Ctg>Ttg	p.L816L	PPFIBP1_ENST00000537927.1_Silent_p.L663L|PPFIBP1_ENST00000542629.1_Silent_p.L785L|PPFIBP1_ENST00000228425.6_Silent_p.L810L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	816	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GATGGAGTGGCTGCGCTCCGT	0.453000													89	202					0	0	0.003610	0	0
FILIP1	27145	broad.mit.edu	37	6	76023710	76023710	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:76023710C>T	ENST00000393004.2	-	5	2059	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.G613E|FILIP1_ENST00000370020.1_Missense_Mutation_p.G514E			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	613										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCGTGACCTTCCTCTTGTTAT	0.388000													75	127					0	0	0.003610	0	0
SALL1	6299	broad.mit.edu	37	16	51174110	51174110	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:51174110G>A	ENST00000440970.1	-	2	2163	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P675S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	675					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P675S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCCCAAAAGGAAACTTGGCC	0.582000													41	57					0	0	0.002222	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870035	151870035	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:151870035C>T	ENST00000329342.5	+	3	950	c.725C>T	c.(724-726)cCc>cTc	p.P242L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	242	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGGGGATCCCAAGAAGCTG	0.547000													75	48					0	0	0.003610	0	0
ACSM1	116285	broad.mit.edu	37	16	20638539	20638539	+	Silent	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:20638539T>G	ENST00000219151.4	-	11	1562	c.352A>C	c.(352-354)Agg>Cgg	p.R118R	ACSM1_ENST00000520010.1_Silent_p.R467R|ACSM1_ENST00000307493.4_Silent_p.R467R			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	467					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCATCACTCCTCCCCAGGAAA	0.507000													98	106					0	0	0.003610	0	0
LOC202181	202181	broad.mit.edu	37	5	177059160	177059160	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:177059160G>A	ENST00000515045.1	-	0	768					NR_026921.1																						TGCACTGCATGGTTTGTGATG	0.552000													7	8					0	0	0.003080	0	0
SLC9C1	285335	broad.mit.edu	37	3	111993777	111993777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:111993777G>A	ENST00000305815.5	-	6	832	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	SLC9C1_ENST00000487372.1_Nonsense_Mutation_p.Q194*	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	194					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGTAGTCTTTGGTCAAAATCC	0.299000													8	29					0	0	0.004482	0	0
DAAM1	23002	broad.mit.edu	37	14	59791090	59791090	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:59791090C>T	ENST00000395125.1	+	7	930	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	DAAM1_ENST00000360909.3_Missense_Mutation_p.H303Y|DAAM1_ENST00000351081.1_Missense_Mutation_p.H303Y	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	303	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTTTAGACTTCATCTTCGCTA	0.274000													26	18					0	0	0.002445	0	0
KRT12	3859	broad.mit.edu	37	17	39017914	39017914	+	Silent	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:39017914T>C	ENST00000251643.4	-	8	1507	c.1484A>G	c.(1483-1485)tAa>tGa	p.*495*	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	0					visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TGTGAAATTTTACATTAGTTC	0.378000													64	11					0	0	0.003610	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928074	92928074	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:92928074T>C	ENST00000373079.3	-	1	493	c.230A>G	c.(229-231)aAg>aGg	p.K77R	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	77					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TACCCTCTTCTTTCTATACAA	0.617000													4	16					0	0	0.001168	0	0
NLRP4	147945	broad.mit.edu	37	19	56388459	56388459	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56388459G>A	ENST00000301295.6	+	8	3045	c.2623G>A	c.(2623-2625)Gaa>Aaa	p.E875K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E819K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E800K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	875							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGGTGCAATGAAATCGGAGA	0.493000													46	34					0	0	0.003610	0	0
FURIN	5045	broad.mit.edu	37	15	91424816	91424816	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:91424816T>G	ENST00000268171.3	+	16	2372	c.2093T>G	c.(2092-2094)gTg>gGg	p.V698G		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	698	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCCCCGGAGGTGGAGGCGGGG	0.697000													33	109					0	0	0.007835	0	0
ATAD3C	219293	broad.mit.edu	37	1	1391200	1391200	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:1391200C>T	ENST00000378785.2	+	6	1463	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	156							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCGCGACATCGCCATAATGA	0.627000													6	22					0	0	0.001168	0	0
COL24A1	255631	broad.mit.edu	37	1	86283719	86283719	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:86283719G>A	ENST00000370571.2	-	46	4207	c.3841C>T	c.(3841-3843)Cct>Tct	p.P1281S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1281S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1281	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTACTTACAGGAATCCCAGGT	0.408000													47	47					0	0	0.003610	0	0
FLRT2	23768	broad.mit.edu	37	14	86088320	86088320	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:86088320C>T	ENST00000330753.4	+	2	1229	c.462C>T	c.(460-462)gcC>gcT	p.A154A	FLRT2_ENST00000554746.1_Silent_p.A154A	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	154					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGACGGGGCCTTCCGGGAGG	0.527000													19	5					0	0	0.008871	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270267	18270267	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:18270267G>A	ENST00000377369.2	+	6	1224	c.951G>A	c.(949-951)gtG>gtA	p.V317V	SLC39A12_ENST00000539911.1_Silent_p.V183V|SLC39A12_ENST00000377374.4_Silent_p.V317V|SLC39A12_ENST00000377371.3_Silent_p.V317V	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	317					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGCAGCTGGTGGAGATATTTC	0.453000													17	26					0	0	0.008871	0	0
NOTUM	147111	broad.mit.edu	37	17	79913410	79913410	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:79913410G>A	ENST00000409678.3	-	9	1382	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	333						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTGCACCACGAACACAGGGC	0.701000													31	9					0	0	0.002222	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800315	28800315	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:28800315C>T	ENST00000373839.3	+	7	1334	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I	PHACTR4_ENST00000373836.3_Missense_Mutation_p.T368I|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	358	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCACGCACCCCTCCATTC	0.512000													52	69					0	0	0.003610	0	0
PLCG2	5336	broad.mit.edu	37	16	81925159	81925159	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:81925159C>T	ENST00000359376.3	+	11	1164	c.950C>T	c.(949-951)cCc>cTc	p.P317L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	317	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGAACAACCCCCTGTCTCAT	0.512000													12	9					0	0	0.000978	0	0
RPL32P3	132241	broad.mit.edu	37	3	129112127	129112127	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:129112127G>A	ENST00000514355.1	-	0	686																				lung(1)	1						GCTTCCTCAGGATTTCTTTGG	0.488000													12	25					0	0	0.002450	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688069	62688069	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:62688069C>T	ENST00000281156.4	-	4	663	c.385G>A	c.(385-387)Gat>Aat	p.D129N		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	129	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGAAGCTCATCACTCAAGTGG	0.373000													14	20					0	0	0.002450	0	0
A2M	2	broad.mit.edu	37	12	9246162	9246162	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:9246162C>T	ENST00000318602.7	-	18	2446	c.2139G>A	c.(2137-2139)atG>atA	p.M713I		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	713	Bait region.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGCCTCTTCCCATTACATCTG	0.428000													11	6					0	0	0.001855	0	0
SNHG14	104472715	broad.mit.edu	37	15	25299421	25299421	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:25299421C>T	ENST00000549804.2	+	0	98				SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA																							AGTGAAAACTCATACCGTCAT	0.483000													21	43					0	0	0.002780	0	0
DGKD	8527	broad.mit.edu	37	2	234367001	234367001	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:234367001C>T	ENST00000264057.2	+	22	2664	c.2652C>T	c.(2650-2652)gcC>gcT	p.A884A	DGKD_ENST00000409813.3_Silent_p.A840A	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	884					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGCAGATGGCCGTCTCTCGAG	0.582000													12	11					0	0	0.003163	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94670745	94670745	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:94670745G>A	ENST00000260526.6	-	7	751	c.569C>T	c.(568-570)tCc>tTc	p.S190F	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.S190F	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	190					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTAAAGGGGAAAAATTTCC	0.338000													8	15					0	0	0.004482	0	0
BIRC6	57448	broad.mit.edu	37	2	32710714	32710714	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:32710714G>A	ENST00000421745.2	+	40	7835	c.7701G>A	c.(7699-7701)ctG>ctA	p.L2567L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2567					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTGTAGCCCTGGATGCTCGCC	0.383000													5	27					0	0	0.001984	0	0
HRSP12	10247	broad.mit.edu	37	8	99118530	99118530	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:99118530G>A	ENST00000254878.3	-	3	340	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	66					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GCAGCTTTCAGAATTTCACCC	0.323000													41	56					0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10469444	10469444	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:10469444G>A	ENST00000382483.3	-	4	2387	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	722					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)		CCCGAGGAGGGAGGTCTCAGG	0.612000													5	10					0	0	0.000602	0	0
MYOM2	9172	broad.mit.edu	37	8	2057242	2057242	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:2057242T>C	ENST00000262113.4	+	25	3241	c.3100T>C	c.(3100-3102)Ttc>Ctc	p.F1034L	MYOM2_ENST00000523438.1_Missense_Mutation_p.F459L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1034					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCGGGTTCGCTTCTGGCTCCA	0.443000													22	22					0	0	0.001523	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460402	107460402	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:107460402C>T	ENST00000409382.3	-	2	642	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R11Q|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R11Q	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	11					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R11Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAAAGCATTCGTTGTCTCCA	0.507000													10	36					0	0	0.000978	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:7577099C>T	ENST00000420246.2	-	8	971	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R280K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; 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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			20	10					0	0	0.001523	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815242	147815242	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:147815242C>T	ENST00000361727.3	+	16	2932	c.2416C>T	c.(2416-2418)Cca>Tca	p.P806S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	806	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTCCCAAACCCATCCTCCTA	0.438000										HNSCC(39;0.1)			61	67					0	0	0.003610	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680597	9680597	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:9680597G>A	ENST00000330255.4	-	4	499	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	DHRS7C_ENST00000571134.1_Missense_Mutation_p.L162F	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	163						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ATGTTGGGAAGCAGGGCTGGA	0.507000													13	4					0	0	0.002450	0	0
MUC17	140453	broad.mit.edu	37	7	100685492	100685492	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100685492C>T	ENST00000306151.4	+	3	10859	c.10795C>T	c.(10795-10797)Cct>Tct	p.P3599S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3599	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P3599S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTTCCACTCCTTCTGTTGA	0.468000													21	105					0	0	0.003954	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211155	45211155	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:45211155C>T	ENST00000587331.1	+	6	1178	c.963C>T	c.(961-963)atC>atT	p.I321I	CEACAM16_ENST00000405314.2_Silent_p.I321I|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	321										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCACGATGATCGTGCCCGTGC	0.652000													51	34					0	0	0.003610	0	0
PKP2	5318	broad.mit.edu	37	12	33031217	33031217	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:33031217G>A	ENST00000340811.4	-	3	705	c.597C>T	c.(595-597)atC>atT	p.I199I	PKP2_ENST00000070846.6_Silent_p.I199I	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	199					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.I199I(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGACCCCCACGATCTCGGAAC	0.597000													15	41					0	0	0.004990	0	0
EPPK1	83481	broad.mit.edu	37	8	144946353	144946353	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:144946353G>A	ENST00000525985.1	-	2	1140	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L				P58107	EPIPL_HUMAN	epiplakin 1	357						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)			TCGGCCACCAGGAGCTGCTCA	0.657000													7	12					0	0	0.001984	0	0
RPF2	84154	broad.mit.edu	37	6	111303331	111303331	+	Splice_Site	SNP	G	G	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:111303331G>C	ENST00000441448.2	+	1	114	c.23_splice	c.e1+1	p.V8_splice		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	8						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						GGATCGAGTAGTGTAAGTGCG	0.617000													10	26					0	0	0.002450	0	0
TPD52L3	89882	broad.mit.edu	37	9	6330200	6330200	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:6330200G>A	ENST00000381428.1	+	2	607	c.386G>A	c.(385-387)gGa>gAa	p.G129E	TPD52L3_ENST00000344545.5_3'UTR|TPD52L3_ENST00000314556.3_Intron	NM_001001875.3	NP_001001875.1	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	0							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AAAGGAGAAGGAAGCAGAATA	0.413000													28	14					0	0	0.007291	0	0
NAMPT	10135	broad.mit.edu	37	7	105913094	105913094	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:105913094C>T	ENST00000222553.3	-	4	636	c.329G>A	c.(328-330)gGg>gAg	p.G110E	NAMPT_ENST00000484527.1_5'UTR|NAMPT_ENST00000354289.4_Missense_Mutation_p.G110E	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	110					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGAAGATGCCCATCATACTT	0.373000													16	19					0	0	0.007413	0	0
FLG	2312	broad.mit.edu	37	1	152284089	152284089	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152284089C>T	ENST00000368799.1	-	3	3308	c.3273G>A	c.(3271-3273)caG>caA	p.Q1091Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1091	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)			GGGGCCCATCCTGTCCATGGC	0.572000									Ichthyosis				144	144					0	0	0.003610	0	0
COL13A1	1305	broad.mit.edu	37	10	71678065	71678065	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:71678065G>A	ENST00000356340.3	+	18	1557	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R	COL13A1_ENST00000357811.3_Missense_Mutation_p.G319R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G322R|COL13A1_ENST00000398978.3_Missense_Mutation_p.G341R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G319R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G284R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G322R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G329R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G341R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G319R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G284R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G319R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G290R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G312R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G341R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G341R			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	341	Triple-helical region 2 (COL2).				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)	TGCCGTGGCTGGGATGAAGGT	0.592000													9	7					0	0	0.001855	0	0
DNAH8	1769	broad.mit.edu	37	6	38773361	38773361	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:38773361G>A	ENST00000359357.3	+	21	2742	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	DNAH8_ENST00000449981.2_Missense_Mutation_p.E1047K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E830K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAAGAAGATGAATTTAAAAA	0.343000													14	32					0	0	0.001855	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924152	105924152	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:105924152G>A	ENST00000393359.2	-	2	1033	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P203S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	203	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTGCAGTAGGGAAACAGGTCC	0.607000													34	82					0	0	0.003271	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251409	25251409	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:25251409G>A	ENST00000328086.7	-	7	3435	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	878					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGAACTCTCCGGTGGGCGCTG	0.453000													23	31					0	0	0.004656	0	0
CLCA3P	9629	broad.mit.edu	37	1	87108233	87108233	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:87108233G>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							CCAGGTGACTGAATTTTGTAC	0.333000													11	13					0	0	0.002450	0	0
DCC	1630	broad.mit.edu	37	18	51053037	51053037	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:51053037G>A	ENST00000442544.2	+	28	4778	c.4162G>A	c.(4162-4164)Gga>Aga	p.G1388R	DCC_ENST00000581580.1_Missense_Mutation_p.G1021R|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1388					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGGTTGGCTGGAAAAGCAAG	0.483000													18	46					0	0	0.008871	0	0
DNAH7	56171	broad.mit.edu	37	2	196740494	196740494	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:196740494C>T	ENST00000312428.6	-	38	6291	c.6191G>A	c.(6190-6192)aGa>aAa	p.R2064K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2064	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						TAACCACTGTCTAAGTAACTC	0.438000													11	25					0	0	0.000978	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588503	20588503	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:20588503G>A	ENST00000428453.1	-	0	4247																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTCCCTAGGGAAAACCTGAG	0.488000													3	10					0	0	0.004672	0	0
MCM10	55388	broad.mit.edu	37	10	13217570	13217570	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:13217570C>T	ENST00000378694.1	+	5	728	c.653C>T	c.(652-654)tCt>tTt	p.S218F	MCM10_ENST00000484800.2_Missense_Mutation_p.S219F|MCM10_ENST00000378714.3_Missense_Mutation_p.S218F			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	219					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CAGACGATTTCTCGGAACAAA	0.468000													16	48					0	0	0.004990	0	0
NFAM1	150372	broad.mit.edu	37	22	42793936	42793936	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:42793936G>A	ENST00000329021.5	-	4	628	c.591C>T	c.(589-591)gaC>gaT	p.D197D		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	197					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						TCCTGGTGGGGTCCTTCCCTG	0.637000													30	51					0	0	0.001786	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605513	159605513	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:159605513C>T	ENST00000337808.6	+	5	1590	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.S325F|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.S106F|SCHIP1_ENST00000482804.1_Missense_Mutation_p.S111F|SCHIP1_ENST00000445224.2_Missense_Mutation_p.S95F|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.S414F|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.S298F|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.S387F	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		338						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CAGAGTTCTTCCTATTCTGAT	0.468000													38	142					0	0	0.002522	0	0
CRYZ	1429	broad.mit.edu	37	1	75171991	75171991	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:75171991G>A	ENST00000417775.1	-	10	1483	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	CRYZ_ENST00000370872.3_Missense_Mutation_p.L190F|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000340866.5_Missense_Mutation_p.L327F|CRYZ_ENST00000370871.3_Missense_Mutation_p.L293F	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	327					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CATAAGAGAAGAATCATTTTT	0.373000													19	29					0	0	0.003330	0	0
ADTRP	84830	broad.mit.edu	37	6	11778902	11778902	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:11778902C>T	ENST00000414691.3	-	1	501	c.91G>A	c.(91-93)Gag>Aag	p.E31K	ADTRP_ENST00000229583.5_Missense_Mutation_p.E31K|ADTRP_ENST00000379413.2_Missense_Mutation_p.E31K	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	31						integral to membrane		p.E31*(1)									GGTTTCACCTCGTCTTTTCCT	0.433000													51	127					0	0	0.003610	0	0
EFHB	151651	broad.mit.edu	37	3	19924167	19924167	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:19924167G>A	ENST00000295824.9	-	12	2364	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	EFHB_ENST00000344838.4_Missense_Mutation_p.R605C	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	735					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTGATGCGACGAATTCGGGGA	0.418000													8	6					0	0	0.006214	0	0
XDH	7498	broad.mit.edu	37	2	31606010	31606010	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:31606010A>C	ENST00000379416.3	-	11	943	c.895T>G	c.(895-897)Ttt>Gtt	p.F299V	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	299	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCAGCTCCAAAGGAGATACCT	0.522000													10	29					0	0	0.000978	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445384	87445384	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:87445384G>A	ENST00000268616.4	-	12	2749	c.2532C>T	c.(2530-2532)ggC>ggT	p.G844G		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	844					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGAAGGTGGAGCCGCCGCCGT	0.657000													12	7					0	0	0.000978	0	0
PML	5371	broad.mit.edu	37	15	74325046	74325046	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:74325046C>T	ENST00000268058.3	+	5	1484	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	PML_ENST00000354026.6_Intron|PML_ENST00000268059.6_Missense_Mutation_p.S463F|PML_ENST00000563500.1_Intron|PML_ENST00000436891.3_Missense_Mutation_p.S463F|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_Missense_Mutation_p.S463F|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Missense_Mutation_p.S463F|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Missense_Mutation_p.S463F|PML_ENST00000569477.1_Missense_Mutation_p.S463F|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Intron|PML_ENST00000565898.1_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	463					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAAGGCCCTTCCTATGGAGAG	0.627000			T	"""RARA, PAX5"""	"""APL, ALL"""								12	24					0	0	0.001855	0	0
IQSEC3	440073	broad.mit.edu	37	12	176501	176501	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:176501G>A	ENST00000538872.1	+	1	571	c.453G>A	c.(451-453)aaG>aaA	p.K151K	IQSEC3_ENST00000326261.4_Silent_p.K151K			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	151					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGACTGACAAGGAGAAGGAGC	0.682000													6	45					0	0	0.004482	0	0
MPP6	51678	broad.mit.edu	37	7	24681342	24681342	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:24681342A>C	ENST00000396475.2	+	4	424	c.125A>C	c.(124-126)gAg>gCg	p.E42A	MPP6_ENST00000409761.1_5'UTR|MPP6_ENST00000222644.4_Missense_Mutation_p.E42A	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	42	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CAGGCTCATGAGAGGCTAGAA	0.303000													6	40					0	0	0.003080	0	0
TMTC2	160335	broad.mit.edu	37	12	83359457	83359457	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:83359457C>T	ENST00000549919.1	+	7	3590	c.1785C>T	c.(1783-1785)caC>caT	p.H595H	TMTC2_ENST00000548305.1_Silent_p.H601H|TMTC2_ENST00000321196.3_Silent_p.H601H			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	601						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCATGCACACAAGAGCTCTG	0.473000													36	29					0	0	0.006999	0	0
MROH2B	133558	broad.mit.edu	37	5	41008722	41008722	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:41008722G>A	ENST00000399564.4	-	33	4044	c.3594C>T	c.(3592-3594)atC>atT	p.I1198I	MROH2B_ENST00000506092.2_Silent_p.I753I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGGGGTCTGGGATCTGCTGCT	0.567000													21	43					0	0	0.008361	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114192030	114192030	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:114192030C>G	ENST00000369405.3	-	10	1529	c.1106G>C	c.(1105-1107)gGa>gCa	p.G369A	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.G365A	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	369						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		AATTTTGTCTCCATATAACCA	0.279000													11	23					0	0	0.008291	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434189	69434189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:69434189C>T	ENST00000317746.2	-	1	56	c.14G>A	c.(13-15)tGg>tAg	p.W5*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	5					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GACTGACATCCATTTCAGAGA	0.408000													89	164					0	0	0.003610	0	0
STRA6	64220	broad.mit.edu	37	15	74481544	74481544	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:74481544G>A	ENST00000323940.5	-	12	1247	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	STRA6_ENST00000563965.1_Silent_p.S373S|STRA6_ENST00000449139.2_Silent_p.S334S|STRA6_ENST00000423167.2_Silent_p.S325S|STRA6_ENST00000535552.1_Silent_p.S371S|STRA6_ENST00000416286.3_Silent_p.S326S|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Silent_p.S349S|STRA6_ENST00000395105.4_Silent_p.S334S	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	334					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCAGCAGGTAGGAGACATCCG	0.637000													3	9					0	0	0.004672	0	0
PAPLN	89932	broad.mit.edu	37	14	73727967	73727967	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:73727967C>T	ENST00000427855.1	+	18	2312	c.2210C>T	c.(2209-2211)cCt>cTt	p.P737L	PAPLN_ENST00000340738.5_Missense_Mutation_p.P710L|PAPLN_ENST00000554301.1_Missense_Mutation_p.P737L|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Missense_Mutation_p.P737L|PAPLN_ENST00000555445.1_Missense_Mutation_p.P737L			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	737						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.P710L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCAGCCGGTCCTCTTGGGGAA	0.642000													10	13					0	0	0.002450	0	0
OR2M7	391196	broad.mit.edu	37	1	248487354	248487354	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248487354C>T	ENST00000317965.2	-	1	545	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TGGGCTATTTCCCGAGACCCA	0.433000													91	87					0	0	0.003610	0	0
ANKMY1	51281	broad.mit.edu	37	2	241439872	241439872	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:241439872G>A	ENST00000391987.1	-	14	2736	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F	ANKMY1_ENST00000373318.2_Silent_p.F569F|ANKMY1_ENST00000403283.1_Silent_p.F692F|ANKMY1_ENST00000373320.4_Silent_p.F560F|ANKMY1_ENST00000401804.1_Silent_p.F879F|ANKMY1_ENST00000406958.1_Silent_p.F551F|ANKMY1_ENST00000272972.3_Silent_p.F790F|ANKMY1_ENST00000361678.4_Silent_p.F566F			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	790							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CACCTACCTGGAAGAATCTGA	0.607000													23	26					0	0	0.006320	0	0
WDR81	124997	broad.mit.edu	37	17	1636905	1636905	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:1636905G>A	ENST00000409644.1	+	7	4574	c.4574G>A	c.(4573-4575)aGt>aAt	p.S1525N	WDR81_ENST00000419248.1_Missense_Mutation_p.S298N|WDR81_ENST00000545662.1_Missense_Mutation_p.S156N|WDR81_ENST00000446363.1_Missense_Mutation_p.S164N|WDR81_ENST00000437219.2_Missense_Mutation_p.S322N|WDR81_ENST00000309182.5_Missense_Mutation_p.S474N|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	298										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCCCCAGCAGTCGCAACCCT	0.662000													27	20					0	0	0.004656	0	0
NLRP8	126205	broad.mit.edu	37	19	56466901	56466901	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56466901C>T	ENST00000291971.3	+	3	1548	c.1477C>T	c.(1477-1479)Ctt>Ttt	p.L493F	NLRP8_ENST00000590542.1_Missense_Mutation_p.L493F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	493	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CATGAGTATTCTTCGGAGAAT	0.468000													57	31					0	0	0.003610	0	0
SEC13	6396	broad.mit.edu	37	3	10346776	10346776	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:10346776C>T	ENST00000397117.1	-	7	1198	c.607G>A	c.(607-609)Gat>Aat	p.D203N	SEC13_ENST00000350697.3_Missense_Mutation_p.D217N|SEC13_ENST00000383801.2_Missense_Mutation_p.D263N|SEC13_ENST00000337354.4_Missense_Mutation_p.D220N|SEC13_ENST00000397109.3_Missense_Mutation_p.D203N			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	217					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CAGGCCACATCTCGAACCCAG	0.617000													20	19					0	0	0.001882	0	0
ARPP21	10777	broad.mit.edu	37	3	35781005	35781005	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:35781005C>T	ENST00000187397.4	+	17	2297	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	ARPP21_ENST00000417925.1_Missense_Mutation_p.S615F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S595F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S595F|ARPP21_ENST00000458225.1_Missense_Mutation_p.S615F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	614	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCTCCCATCTCCCAGCAGGTC	0.612000													13	9					0	0	0.002450	0	0
PTPRN2	5799	broad.mit.edu	37	7	157369323	157369323	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:157369323G>A	ENST00000389413.3	-	18	2781	c.2678C>T	c.(2677-2679)tCc>tTc	p.S893F	PTPRN2_ENST00000409483.1_Missense_Mutation_p.S884F|PTPRN2_ENST00000404321.2_Missense_Mutation_p.S945F|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S905F|PTPRN2_ENST00000389418.4_Missense_Mutation_p.S922F	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	922	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCCAGGAGGGACCTTGAGGA	0.647000													7	5					0	0	0.006214	0	0
SNRNP200	23020	broad.mit.edu	37	2	96970545	96970545	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:96970545G>A	ENST00000323853.5	-	2	184	c.107C>T	c.(106-108)cCc>cTc	p.P36L	SNRNP200_ENST00000349783.5_Missense_Mutation_p.P36L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	36						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTCTCCTGTGGGTTCATCCCG	0.532000													15	22					0	0	0.003163	0	0
PSMA4	5685	broad.mit.edu	37	15	78834944	78834944	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:78834944C>T	ENST00000044462.7	+	4	316	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	PSMA4_ENST00000559082.1_Missense_Mutation_p.L56F|PSMA4_ENST00000558341.1_Missense_Mutation_p.L56F|PSMA4_ENST00000558281.1_Missense_Mutation_p.L56F|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000560217.1_Missense_Mutation_p.L25F	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCACAAGCTTCTTGATGAAGT	0.363000													18	107					0	0	0.001523	0	0
FOXP2	93986	broad.mit.edu	37	7	114282580	114282580	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:114282580C>T	ENST00000393500.3	+	13	1486	c.666C>T	c.(664-666)tcC>tcT	p.S222S	FOXP2_ENST00000390668.3_Silent_p.S321S|FOXP2_ENST00000393494.2_Silent_p.S297S|FOXP2_ENST00000393491.3_Silent_p.S205S|FOXP2_ENST00000350908.4_Silent_p.S297S|FOXP2_ENST00000393498.2_Silent_p.S276S|FOXP2_ENST00000378237.3_Silent_p.S297S|FOXP2_ENST00000360232.4_Silent_p.S297S|FOXP2_ENST00000408937.3_Silent_p.S322S|FOXP2_ENST00000403559.4_Silent_p.S314S|FOXP2_ENST00000393489.3_Silent_p.S205S			O15409	FOXP2_HUMAN	forkhead box P2	297	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACAATTCCTCCTCGACTACCT	0.443000													35	24					0	0	0.004289	0	0
WDR70	55100	broad.mit.edu	37	5	37725136	37725136	+	Silent	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:37725136T>A	ENST00000265107.4	+	16	1854	c.1698T>A	c.(1696-1698)ccT>ccA	p.P566P		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	566										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACCTGAACCTCCTGTAGCAG	0.537000													22	45					0	0	0.003954	0	0
TAF5L	27097	broad.mit.edu	37	1	229738560	229738560	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:229738560A>C	ENST00000366675.3	-	4	442	c.354T>G	c.(352-354)agT>agG	p.S118R	TAF5L_ENST00000258281.2_Missense_Mutation_p.S118R|TAF5L_ENST00000366676.1_Missense_Mutation_p.S118R	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	118					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGCTGTAAAAACTTTCCACTG	0.478000													16	44					0	0	0.004990	0	0
ZNF99	7652	broad.mit.edu	37	19	22939443	22939443	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22939443G>A	ENST00000397104.3	-	7	2727	c.2728C>T	c.(2728-2730)Cat>Tat	p.H910Y						zinc finger protein 99									p.H910Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCCCAGTATGAATTATCTTA	0.358000													18	8					0	0	0.001523	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361510	70361510	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:70361510C>T	ENST00000305107.6	-	1	116	c.70G>A	c.(70-72)Gga>Aga	p.G24R	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.G24R|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	24					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGCACCTTTCCACAACTCCCA	0.458000													46	80					0	0	0.002522	0	0
SHISA4	149345	broad.mit.edu	37	1	201860574	201860574	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:201860574C>T	ENST00000362011.6	+	4	712	c.425C>T	c.(424-426)cCa>cTa	p.P142L	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	142	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						CCAGTATACCCATACCCCCAG	0.582000													14	49					0	0	0.004007	0	0
DSG3	1830	broad.mit.edu	37	18	29052712	29052712	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:29052712C>T	ENST00000257189.4	+	14	2145	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	688					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGTGTGCCTCCTGTAACAGC	0.343000													12	15					0	0	0.003163	0	0
TVP23A	780776	broad.mit.edu	37	16	10867224	10867224	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:10867224C>T	ENST00000299866.8	-	5	690	c.399G>A	c.(397-399)atG>atA	p.M133I	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1			trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)																		CAATCCATATCATGGGGCAGA	0.423000													16	40					0	0	0.003163	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139809	55139809	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:55139809C>T	ENST00000257290.5	+	10	1801	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	490	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGTGACTTTCGCCAAAGTGG	0.532000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			27	47					0	0	0.008361	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072308	17072308	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:17072308C>T	ENST00000359963.3	-	1	1392	c.1133G>A	c.(1132-1134)aGg>aAg	p.R378K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	378					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGTGGCTCCCCTGAGAACCAC	0.567000													38	45					0	0	0.002222	0	0
STEAP3	55240	broad.mit.edu	37	2	120003077	120003077	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:120003077C>T	ENST00000354888.5	+	3	509	c.5C>T	c.(4-6)cCa>cTa	p.P2L	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.P2L|STEAP3_ENST00000450943.2_Missense_Mutation_p.P2L|STEAP3_ENST00000409811.1_Missense_Mutation_p.P2L|STEAP3_ENST00000393110.2_Missense_Mutation_p.P12L|STEAP3_ENST00000425223.2_Missense_Mutation_p.P2L|STEAP3_ENST00000393108.2_Missense_Mutation_p.P2L|STEAP3_ENST00000393107.2_Missense_Mutation_p.P2L	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	2					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						ACCAAAATGCCAGAAGAGATG	0.572000													9	27					0	0	0.008291	0	0
DCLK3	85443	broad.mit.edu	37	3	36759579	36759579	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:36759579C>T	ENST00000416516.2	-	4	2165	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	559	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCGTCCTGGTCCCTCTCAGGG	0.557000													64	35					0	0	0.003610	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74621505	74621505	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:74621505A>C	ENST00000354431.4	-	4	810	c.619T>G	c.(619-621)Tca>Gca	p.S207A	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.S207A|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.S99A|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	207										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTAATTTTTGAAGTAATATGT	0.244000													22	16					0	0	0.003954	0	0
HMCN1	83872	broad.mit.edu	37	1	186083236	186083236	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:186083236C>T	ENST00000271588.4	+	73	11486	c.11257C>T	c.(11257-11259)Cta>Tta	p.L3753L	HMCN1_ENST00000367492.2_Silent_p.L3753L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3753	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAGCTGTTCTAGCTGGGAA	0.368000													9	47					0	0	0.006214	0	0
SNTG1	54212	broad.mit.edu	37	8	51664574	51664574	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:51664574G>A	ENST00000522124.1	+	18	1959	c.1298G>A	c.(1297-1299)aGg>aAg	p.R433K	SNTG1_ENST00000518864.1_Missense_Mutation_p.R433K|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000276467.5_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	433					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTCCTTTGGAGGTATAAATTC	0.333000													13	58					0	0	0.003163	0	0
F8	2157	broad.mit.edu	37	X	154158550	154158550	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:154158550C>T	ENST00000360256.4	-	14	3715	c.3515G>A	c.(3514-3516)gGa>gAa	p.G1172E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1172	B.				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)	TTCACCCTTTCCTACTACCAC	0.383000													27	34					0	0	0.007291	0	0
EPHB1	2047	broad.mit.edu	37	3	134670506	134670506	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:134670506C>T	ENST00000398015.3	+	3	787	c.417C>T	c.(415-417)acC>acT	p.T139T	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	139						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						AAGTAGACACCATTGCTGCAG	0.502000													60	65					0	0	0.003610	0	0
TLR6	10333	broad.mit.edu	37	4	38829514	38829514	+	Silent	SNP	C	C	T	rs56325560		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:38829514C>T	ENST00000436693.2	-	2	1700	c.1581G>A	c.(1579-1581)ggG>ggA	p.G527G	TLR6_ENST00000381950.1_Silent_p.G527G	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	527					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGATTGTCCCCTGCTTTTA	0.413000													67	157					0	0	0.003610	0	0
LAMA2	3908	broad.mit.edu	37	6	129813560	129813560	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:129813560G>A	ENST00000421865.2	+	58	8225	c.8176G>A	c.(8176-8178)Gaa>Aaa	p.E2726K	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2726					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCTCCAGCTGAAATAGTTAT	0.498000													32	20					0	0	0.002445	0	0
FBN1	2200	broad.mit.edu	37	15	48738959	48738959	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:48738959G>A	ENST00000316623.5	-	47	6187	c.5732C>T	c.(5731-5733)tCc>tTc	p.S1911F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1911	EGF-like 32; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCAGTTGAAGGAACCAATTGT	0.398000													6	20					0	0	0.003080	0	0
DCHS1	8642	broad.mit.edu	37	11	6653573	6653573	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:6653573C>T	ENST00000299441.3	-	6	3581	c.3170G>A	c.(3169-3171)cGg>cAg	p.R1057Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1057	Cadherin 10.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGTGCTGCCCGCACCCATAG	0.597000													20	9					0	0	0.002780	0	0
ITGA8	8516	broad.mit.edu	37	10	15760852	15760852	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:15760852C>T	ENST00000378076.3	-	2	609	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	86					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCACGATATCGGGCTGGCTG	0.577000													23	33					0	0	0.003330	0	0
TACR3	6870	broad.mit.edu	37	4	104640463	104640463	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:104640463G>A	ENST00000304883.2	-	1	510	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	124						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGGTTCACAAGGAAGTAGTTG	0.537000													17	34					0	0	0.004007	0	0
CDH5	1003	broad.mit.edu	37	16	66436749	66436749	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:66436749C>T	ENST00000341529.3	+	12	2180	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	CDH5_ENST00000539168.1_Silent_p.L117L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	678					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		gcggcccgcgcTGGACGCCCG	0.721000													9	7					0	0	0.004482	0	0
SBK1	388228	broad.mit.edu	37	16	28331720	28331720	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:28331720C>T	ENST00000341901.4	+	4	1542	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGGCAACTTCCCGTGGGAGG	0.736000													10	40					0	0	0.000978	0	0
CCR2	729230	broad.mit.edu	37	3	46399808	46399808	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:46399808C>T	ENST00000292301.4	+	2	1275	c.790C>T	c.(790-792)Ctc>Ttc	p.L264F	CCR2_ENST00000400888.2_Missense_Mutation_p.L264F|CCR2_ENST00000445132.2_Missense_Mutation_p.L264F|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	264					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TATTGTCATTCTCCTGAACAC	0.473000													52	30					0	0	0.003610	0	0
BCL6	604	broad.mit.edu	37	3	187446943	187446943	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:187446943G>A	ENST00000406870.2	-	5	1616	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.P417L|BCL6_ENST00000450123.2_Missense_Mutation_p.P417L	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	417					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCTCCATGGGTGGCTGGCA	0.627000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								15	69					0	0	0.001523	0	0
NEK5	341676	broad.mit.edu	37	13	52660499	52660499	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:52660499C>T	ENST00000355568.4	-	16	1532	c.1392_splice	c.e16-1	p.E465_splice		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	465							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TTCCAATATTCCTGGAAAGCA	0.338000													27	17					0	0	0.001786	0	0
GPAM	57678	broad.mit.edu	37	10	113915751	113915751	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:113915751A>T	ENST00000348367.4	-	20	2379	c.2182T>A	c.(2182-2184)Ttg>Atg	p.L728M	GPAM_ENST00000369425.1_3'UTR|GPAM_ENST00000423155.1_Missense_Mutation_p.L728M			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	728					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GCCTCCAGCAAAGGCCCAAGG	0.483000													6	15					0	0	0.001168	0	0
VCL	7414	broad.mit.edu	37	10	75857083	75857083	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:75857083G>A	ENST00000211998.4	+	13	1959	c.1865G>A	c.(1864-1866)aGg>aAg	p.R622K	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.R622K|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	622	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GCGCCTAACAGGGAAGAGGTG	0.502000													13	47					0	0	0.001855	0	0
MYLK2	85366	broad.mit.edu	37	20	30419644	30419644	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:30419644C>T	ENST00000375994.2	+	10	1836	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	MYLK2_ENST00000375985.4_Silent_p.I521I|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	521	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAACCTCATCGTCAAGGACC	0.532000													14	73					0	0	0.003163	0	0
FGFR2	2263	broad.mit.edu	37	10	123245021	123245021	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:123245021C>T	ENST00000358487.5	-	16	2355	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	FGFR2_ENST00000369059.1_Missense_Mutation_p.E581K|FGFR2_ENST00000369061.4_Missense_Mutation_p.E583K|FGFR2_ENST00000351936.6_Missense_Mutation_p.E693K|FGFR2_ENST00000360144.3_Missense_Mutation_p.E607K|FGFR2_ENST00000478859.1_Missense_Mutation_p.E467K|FGFR2_ENST00000369056.1_Missense_Mutation_p.E696K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E578K|FGFR2_ENST00000457416.2_Missense_Mutation_p.E696K|FGFR2_ENST00000357555.5_Missense_Mutation_p.E606K|FGFR2_ENST00000369060.4_Missense_Mutation_p.E579K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E693K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	695	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTGAAGATCTCCCACATTAAC	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				15	33					0	0	0.003163	0	0
NANOGP1	404635	broad.mit.edu	37	12	8050937	8050937	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:8050937G>A	ENST00000607111.1	+	0	340																				kidney(1)|lung(4)|prostate(1)	6						aatagcaatggtgtgacgcag	0.423000													7	5					0	0	0.006214	0	0
PTPDC1	138639	broad.mit.edu	37	9	96863937	96863937	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:96863937G>A	ENST00000375360.3	+	8	2281	c.1941G>A	c.(1939-1941)gtG>gtA	p.V647V	PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Silent_p.V699V	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	647							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGTCTTGGGTGGAGCAACTGA	0.463000													52	21					0	0	0.003610	0	0
OR2T12	127064	broad.mit.edu	37	1	248458211	248458211	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248458211G>A	ENST00000317996.1	-	1	669	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			CGCATGAGCAGAACAGCAGCG	0.512000													18	49					0	0	0.007413	0	0
ST14	6768	broad.mit.edu	37	11	130068280	130068280	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:130068280G>A	ENST00000278742.5	+	13	1955	c.1537G>A	c.(1537-1539)Gac>Aac	p.D513N		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	513	LDL-receptor class A 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGTGTGAACGACTGCGGAGA	0.662000													34	8					0	0	0.005524	0	0
ARMC4	55130	broad.mit.edu	37	10	28101521	28101521	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:28101521C>T	ENST00000305242.5	-	20	3147	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	ARMC4_ENST00000545014.1_Silent_p.R584R|ARMC4_ENST00000537576.1_Intron	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1019							binding	p.D1019Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCTGGAGATCCTGGTCAGGG	0.418000													16	47					0	0	0.004990	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590794	141590794	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:141590794C>T	ENST00000442267.2	-	8	1505	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	477						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCACCAATTTCGGGTTGAACT	0.463000													10	13					0	0	0.008291	0	0
GIN1	54826	broad.mit.edu	37	5	102432395	102432395	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:102432395G>A	ENST00000399004.2	-	7	1238	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	382					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GACTGAAAACGACCATCCTTC	0.378000													59	42					0	0	0.003610	0	0
LRP1	4035	broad.mit.edu	37	12	57598428	57598428	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:57598428C>T	ENST00000243077.3	+	72	11556	c.11090C>T	c.(11089-11091)cCc>cTc	p.P3697L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3697	LDL-receptor class A 30.				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)	GTGTGCCCTCCCAACCGGCCC	0.632000													17	84					0	0	0.006122	0	0
NLRP2	55655	broad.mit.edu	37	19	55493564	55493564	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55493564G>A	ENST00000543010.1	+	6	641	c.498G>A	c.(496-498)acG>acA	p.T166T	NLRP2_ENST00000448584.2_Silent_p.T166T|NLRP2_ENST00000427260.2_Silent_p.T143T|NLRP2_ENST00000391721.4_Silent_p.T142T|NLRP2_ENST00000263437.6_Silent_p.T163T|NLRP2_ENST00000538819.1_Silent_p.T142T|NLRP2_ENST00000537859.1_Silent_p.T144T|NLRP2_ENST00000339757.7_Silent_p.T144T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	166					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TATTGAAGACGAAGTTCCGGG	0.473000													116	49					0	0	0.003610	0	0
MYH2	4620	broad.mit.edu	37	17	10446465	10446465	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:10446465C>T	ENST00000245503.5	-	9	1139	c.755G>A	c.(754-756)aGa>aAa	p.R252K	MYH2_ENST00000532183.1_Missense_Mutation_p.R252K|MYH2_ENST00000397183.2_Missense_Mutation_p.R252K|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	252	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAAGTGGATTCTGATGAATTT	0.284000													53	43					0	0	0.003610	0	0
OR1L3	26735	broad.mit.edu	37	9	125437717	125437717	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:125437717C>T	ENST00000304820.2	+	1	403	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						AGATGTATTTCTTCCTGGTTT	0.408000													64	36					0	0	0.003610	0	0
APOBR	55911	broad.mit.edu	37	16	28507730	28507730	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:28507730G>A	ENST00000564831.1	+	2	1401	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	APOBR_ENST00000431282.1_Silent_p.G447G|APOBR_ENST00000328423.5_Silent_p.G447G	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	447	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGGAGGCAGGGGAGAGCTTTG	0.627000													24	24					0	0	0.003954	0	0
PHF8	23133	broad.mit.edu	37	X	53965627	53965627	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:53965627G>A	ENST00000338154.6	-	22	3543	c.3039C>T	c.(3037-3039)atC>atT	p.I1013I	PHF8_ENST00000357988.5_Silent_p.I1049I|PHF8_ENST00000338946.6_Silent_p.I912I	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1049					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGATTTTCAGGATACGGCCGA	0.542000													36	22					0	0	0.006230	0	0
TTN	7273	broad.mit.edu	37	2	179615915	179615915	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179615915C>T	ENST00000360870.5	-	46	11434	c.11212G>A	c.(11212-11214)Gat>Aat	p.D3738N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9584							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)			ATATCTTTATCACTAGCTTCA	0.338000													11	15					0	0	0.008291	0	0
TNIK	23043	broad.mit.edu	37	3	170856009	170856009	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:170856009G>A	ENST00000436636.2	-	15	1923	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	TNIK_ENST00000460047.1_Missense_Mutation_p.P527S|TNIK_ENST00000369326.5_Missense_Mutation_p.P498S|TNIK_ENST00000470834.1_Missense_Mutation_p.P498S|TNIK_ENST00000357327.5_Missense_Mutation_p.P498S|TNIK_ENST00000341852.6_Missense_Mutation_p.P498S|TNIK_ENST00000284483.8_Missense_Mutation_p.P527S|TNIK_ENST00000538048.1_Missense_Mutation_p.P527S|TNIK_ENST00000475336.1_Missense_Mutation_p.P498S|TNIK_ENST00000488470.1_Missense_Mutation_p.P527S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	527	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCTCACTAGGACTCATTCCT	0.488000													7	31					0	0	0.006214	0	0
CNGA1	1259	broad.mit.edu	37	4	47938625	47938625	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:47938625C>T	ENST00000402813.3	-	10	2235	c.2093G>A	c.(2092-2094)cGa>cAa	p.R698Q	CNGA1_ENST00000514170.1_Missense_Mutation_p.R629Q|CNGA1_ENST00000358519.4_Missense_Mutation_p.R629Q|CNGA1_ENST00000420489.2_Missense_Mutation_p.R629Q|CNGA1_ENST00000544810.1_Missense_Mutation_p.R629Q			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	629					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CCCCTCCATTCGAGTAACCTT	0.433000													37	95					0	0	0.006999	0	0
SCEL	8796	broad.mit.edu	37	13	78187059	78187059	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:78187059C>T	ENST00000535157.1	+	21	1415	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	SCEL_ENST00000349847.3_Silent_p.I457I|SCEL_ENST00000377246.3_Silent_p.I437I|SCEL_ENST00000469982.1_3'UTR	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	457	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TCAAAGTGATCCCTTCAGCAA	0.279000													11	11					0	0	0.001368	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81192376	81192376	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:81192376G>A	ENST00000372336.3	-	2	571	c.385C>T	c.(385-387)Cca>Tca	p.P129S	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.P69L	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	129							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TAGTTGGGTGGGGGCCGCTTG	0.632000													19	28					0	0	0.002299	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045570	142045570	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:142045570G>A	ENST00000390392.3	+	0	209																											CTGGTCATGGGAATGACAAAT	0.488000													57	32					0	0	0.003610	0	0
SMUG1	23583	broad.mit.edu	37	12	54577461	54577461	+	Silent	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:54577461A>C	ENST00000505128.1	-	3	386	c.264T>G	c.(262-264)ccT>ccG	p.P88P	SMUG1_ENST00000401977.2_Silent_p.P88P|SMUG1_ENST00000505662.1_Intron|SMUG1_ENST00000513838.1_Silent_p.P88P|SMUG1_ENST00000514685.1_Silent_p.P88P|SMUG1_ENST00000243112.5_Silent_p.P88P|SMUG1_ENST00000337581.3_Silent_p.P88P|SMUG1_ENST00000514196.1_Silent_p.P88P|SMUG1_ENST00000506595.1_Silent_p.P88P|SMUG1_ENST00000508394.2_Silent_p.P88P			Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	88				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						CCATGCCAAAAGGTCCAGGGT	0.587000								Base excision repair (BER), DNA glycosylases					12	31					0	0	0.001368	0	0
ZNF626	199777	broad.mit.edu	37	19	20808123	20808123	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:20808123G>A	ENST00000601440.1	-	4	706	c.560C>T	c.(559-561)aCt>aTt	p.T187I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGTAAGAGTTGAGAACTG	0.363000													16	8					0	0	0.004007	0	0
COPB1	1315	broad.mit.edu	37	11	14508035	14508035	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:14508035G>A	ENST00000249923.3	-	7	1015	c.715C>T	c.(715-717)Cca>Tca	p.P239S	COPB1_ENST00000439561.2_Missense_Mutation_p.P239S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	239					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTTTCTGATGGATTAGCATGA	0.398000													32	19					0	0	0.002445	0	0
POLQ	10721	broad.mit.edu	37	3	121207049	121207049	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:121207049G>A	ENST00000264233.5	-	16	4857	c.4729C>T	c.(4729-4731)Cct>Tct	p.P1577S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1577					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCTTGGACAGGAAATATATCC	0.393000								DNA polymerases (catalytic subunits)					15	45					0	0	0.004007	0	0
SCAND3	114821	broad.mit.edu	37	6	28539785	28539785	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28539785C>T	ENST00000452236.2	-	4	4498	c.3881G>A	c.(3880-3882)aGt>aAt	p.S1294N		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1294					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tatatttaaactgtttctatg	0.353000													17	47					0	0	0.004990	0	0
ASTN1	460	broad.mit.edu	37	1	177001937	177001937	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:177001937G>A	ENST00000367654.2	-	3	533	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	ASTN1_ENST00000361833.2_Silent_p.L174L|ASTN1_ENST00000367657.3_Silent_p.L174L|ASTN1_ENST00000424564.2_Silent_p.L174L|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	174					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGAGTATACAGGATCATCACC	0.577000													9	30					0	0	0.004482	0	0
TMEM95	339168	broad.mit.edu	37	17	7258682	7258682	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:7258682C>T	ENST00000389982.4	+	1	241	c.159C>T	c.(157-159)gcC>gcT	p.A53A	TMEM95_ENST00000576060.1_Silent_p.A53A|TMEM95_ENST00000330767.4_Silent_p.A53A			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	53						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				ACTTCTCGGCCTTTGCCTTAG	0.647000													17	17					0	0	0.007413	0	0
CDHR2	54825	broad.mit.edu	37	5	176004637	176004637	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:176004637G>A	ENST00000510636.1	+	14	1624		c.e14-1		CDHR2_ENST00000506348.1_Splice_Site|CDHR2_ENST00000261944.5_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2						homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTGCCCCCAGGTTGTGGCCA	0.652000													16	13					0	0	0.004990	0	0
CNBD1	168975	broad.mit.edu	37	8	88249292	88249292	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:88249292C>T	ENST00000518476.1	+	6	774	c.723C>T	c.(721-723)ttC>ttT	p.F241F	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	241										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GTGAAGAATTCAAAAACTCTA	0.388000													16	19					0	0	0.007413	0	0
SNX29	92017	broad.mit.edu	37	16	12223552	12223552	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:12223552C>T	ENST00000566228.1	+	13	1601	c.1532C>T	c.(1531-1533)aCc>aTc	p.T511I	SNX29_ENST00000323433.4_Missense_Mutation_p.T126I|SNX29_ENST00000306030.3_Missense_Mutation_p.T126I	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	126					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GAGGTGGACACCTTGAAAAGG	0.602000													8	3					0	0	0.004482	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628503	173628503	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:173628503C>T	ENST00000333279.2	-	2	115	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	35										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ttttcctcttcttGCTGTGAG	0.413000													5	16					0	0	0.000602	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733846	28733846	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:28733846G>A	ENST00000550043.1	+	0	251																											ATGGGAAAGGGGGCAGTGTTC	0.547000													21	11					0	0	0.002299	0	0
PRDM9	56979	broad.mit.edu	37	5	23526594	23526594	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:23526594G>C	ENST00000296682.3	+	11	1579	c.1397G>C	c.(1396-1398)aGg>aCg	p.R466T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	466					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						TTGAATAAAAGGACATGGCAG	0.453000										HNSCC(3;0.000094)			3	17					0	0	0.004672	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456510	106456510	+	Translation_Start_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:106456510G>A	ENST00000520492.1	+	0	374				ZFPM2_ENST00000407775.2_Missense_Mutation_p.D68N			Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2						blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTTCCAGGTGATGATGAAGG	0.463000													6	10					0	0	0.001168	0	0
LRIG1	26018	broad.mit.edu	37	3	66436534	66436534	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:66436534C>T	ENST00000383703.3	-	14	2335	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.E554K|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	554	Ig-like C2-type 1.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCATCACTTCCCCGTCCTGC	0.562000													48	22					0	0	0.003610	0	0
TRIM68	55128	broad.mit.edu	37	11	4621530	4621530	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:4621530G>A	ENST00000300747.5	-	7	1723	c.1434C>T	c.(1432-1434)atC>atT	p.I478I		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	478	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCAGGGAGCAGATGGCCAGAG	0.577000													18	4					0	0	0.001523	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92818554	92818554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:92818554G>A	ENST00000440868.1	-	8	1404	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000394468.2_3'UTR|HEPACAM2_ENST00000453812.2_3'UTR|HEPACAM2_ENST00000341723.4_3'UTR			A8MVW5	HECA2_HUMAN	HEPACAM family member 2	0						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AATTTCACTCGAATGTACTGT	0.323000													5	35					0	0	0.001168	0	0
FMN2	56776	broad.mit.edu	37	1	240370954	240370954	+	Silent	SNP	C	C	T	rs6143701		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:240370954C>T	ENST00000319653.9	+	5	3072	c.2842C>T	c.(2842-2844)Cta>Tta	p.L948L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	948	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCGCCCCCTCTACCCGGAGC	0.687000													9	2					0	0	0.004482	0	0
TRAV3	28690	broad.mit.edu	37	14	22192442	22192442	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:22192442G>A	ENST00000390425.2	+	0	393																											CATCACAGGGGATAACCTGGT	0.463000													36	23					0	0	0.006230	0	0
KLF12	11278	broad.mit.edu	37	13	74420329	74420329	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:74420329G>A	ENST00000377669.2	-	3	331	c.305C>T	c.(304-306)tCc>tTc	p.S102F	KLF12_ENST00000377666.4_Missense_Mutation_p.S102F|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	102					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGCTGTCATGGAAACTGGGGA	0.468000													22	13					0	0	0.002299	0	0
SLIT1	6585	broad.mit.edu	37	10	98790525	98790525	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:98790525G>A	ENST00000266058.4	-	25	2816	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	SLIT1_ENST00000371070.4_Silent_p.S857S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	857					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTGAGACAGGGAGGTCACGT	0.542000													46	18					0	0	0.003610	0	0
IL15	3600	broad.mit.edu	37	4	142649103	142649103	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:142649103T>A	ENST00000477265.1	+	5	5133	c.125T>A	c.(124-126)aTt>aAt	p.I42N	IL15_ENST00000514653.1_Missense_Mutation_p.I42N|IL15_ENST00000296545.7_Missense_Mutation_p.I69N|IL15_ENST00000529613.1_Missense_Mutation_p.I69N|IL15_ENST00000320650.4_Missense_Mutation_p.I69N|IL15_ENST00000394159.1_Missense_Mutation_p.I42N			P40933	IL15_HUMAN	interleukin 15	69					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TCTATGCATATTGATGCTACT	0.254000													12	24					0	0	0.002450	0	0
PADI6	353238	broad.mit.edu	37	1	17725327	17725327	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:17725327C>T	ENST00000434762.2	+	0	1886							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TTTGCGAGGCCATACTTCCCT	0.602000													16	25					0	0	0.001523	0	0
GRM4	2914	broad.mit.edu	37	6	34004153	34004153	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:34004153G>A	ENST00000374181.3	-	8	1903	c.1734C>T	c.(1732-1734)atC>atT	p.I578I	GRM4_ENST00000535756.1_Silent_p.I445I|GRM4_ENST00000538487.1_Silent_p.I578I|GRM4_ENST00000544773.1_Silent_p.I409I|GRM4_ENST00000455714.2_Silent_p.I438I|GRM4_ENST00000545715.1_Silent_p.I270I|GRM4_ENST00000374177.3_Silent_p.I462I	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	578					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CAAGCTTGATGATGGGGATGG	0.637000													18	47					0	0	0.007413	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082808	73082808	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:73082808C>T	ENST00000373189.5	+	2	349	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	99					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCTCAGACATCCTGGTAAGGG	0.552000													14	20					0	0	0.003163	0	0
DNAH7	56171	broad.mit.edu	37	2	196913086	196913086	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:196913086G>A	ENST00000312428.6	-	4	284	c.184C>T	c.(184-186)Cat>Tat	p.H62Y	DNAH7_ENST00000410072.1_Missense_Mutation_p.H62Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	62	Stem (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						ACACTCAAATGGAATGATGGA	0.348000													28	38					0	0	0.002096	0	0
SBF2	81846	broad.mit.edu	37	11	10015515	10015515	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:10015515G>A	ENST00000256190.8	-	10	1143	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	336					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGAAAAGCATGATCTGCTACT	0.289000													10	8					0	0	0.001855	0	0
AIRE	326	broad.mit.edu	37	21	45711070	45711070	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:45711070C>T	ENST00000291582.5	+	8	1099	c.972C>T	c.(970-972)tcC>tcT	p.S324S	AIRE_ENST00000355347.4_Silent_p.S117S|AIRE_ENST00000329347.4_Silent_p.S117S	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	324					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCTGCCTGTCCCCTCCGCTCC	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				16	15					0	0	0.004007	0	0
LRRC43	254050	broad.mit.edu	37	12	122677530	122677530	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:122677530C>T	ENST00000339777.4	+	7	1356	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	LRRC43_ENST00000425921.1_Missense_Mutation_p.P258L	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	443										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CGTATAGATCCCCGGCTCTGC	0.592000													13	7					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9067326	9067326	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9067326G>A	ENST00000397910.4	-	3	20323	c.20120C>T	c.(20119-20121)tCc>tTc	p.S6707F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6709	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						TGACTCTGTGGAATGATCAGG	0.478000													71	46					0	0	0.003610	0	0
OR5T3	390154	broad.mit.edu	37	11	56020208	56020208	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:56020208C>T	ENST00000303059.3	+	1	533	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCACTGCTTCCTACGTTGCT	0.433000													46	23					0	0	0.003610	0	0
RIMBP2	23504	broad.mit.edu	37	12	130929789	130929789	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:130929789C>T	ENST00000261655.4	-	7	719	c.556G>A	c.(556-558)Gag>Aag	p.E186K	RIMBP2_ENST00000535703.1_Missense_Mutation_p.E94K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E94K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	186	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGGGGTTCTCGTTCGGTCCA	0.542000													16	77					0	0	0.001523	0	0
TMC2	117532	broad.mit.edu	37	20	2559813	2559813	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:2559813G>A	ENST00000358864.1	+	6	682	c.667G>A	c.(667-669)Gac>Aac	p.D223N		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	223	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTAAGAGAGACTTTGATAA	0.398000													3	8					0	0	0.000602	0	0
PRKAG2	51422	broad.mit.edu	37	7	151265868	151265868	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:151265868G>A	ENST00000287878.4	-	11	1671	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	PRKAG2_ENST00000433631.2_Silent_p.D264D|PRKAG2_ENST00000492843.1_Silent_p.D265D|PRKAG2_ENST00000418337.2_Silent_p.D148D|PRKAG2_ENST00000392801.2_Silent_p.D345D	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	389	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CACTGATAGGGTCAATAACGG	0.383000													25	9					0	0	0.003954	0	0
HEPH	9843	broad.mit.edu	37	X	65486329	65486329	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:65486329A>T	ENST00000519389.1	+	21	3633	c.3454A>T	c.(3454-3456)Atg>Ttg	p.M1152L	HEPH_ENST00000441993.2_Missense_Mutation_p.M1100L|HEPH_ENST00000343002.2_Missense_Mutation_p.M1098L|HEPH_ENST00000374727.3_Missense_Mutation_p.M1101L|HEPH_ENST00000419594.1_Missense_Mutation_p.M909L|HEPH_ENST00000336279.5_Missense_Mutation_p.M831L			Q9BQS7	HEPH_HUMAN	hephaestin	1098					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GATGCTGGGCATGCAGATCCC	0.483000													31	16					0	0	0.003271	0	0
SPAG17	200162	broad.mit.edu	37	1	118506531	118506531	+	Missense_Mutation	SNP	C	C	T	rs142632361		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:118506531C>T	ENST00000336338.5	-	48	6628	c.6563G>A	c.(6562-6564)cGa>cAa	p.R2188Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2188						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTCTTTTGGTCGTTTATCATA	0.338000													22	39					0	0	0.003954	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883577	19883577	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:19883577G>A	ENST00000300571.2	-	2	782	c.591C>T	c.(589-591)ccC>ccT	p.P197P	GPRC5B_ENST00000535671.1_Silent_p.P197P|GPRC5B_ENST00000569847.1_Silent_p.P197P|GPRC5B_ENST00000569479.1_Silent_p.P197P|GPRC5B_ENST00000537135.1_Silent_p.P223P	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	197										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAAAGTCCATGGGCTCGTAGG	0.607000													22	31					0	0	0.002780	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261966	1261966	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:1261966C>T	ENST00000348261.5	+	25	4835	c.4587C>T	c.(4585-4587)ccC>ccT	p.P1529P	CACNA1H_ENST00000565831.1_Silent_p.P1529P|CACNA1H_ENST00000358590.4_Silent_p.P1529P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1529					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACCACAACCCCTGGATGCTGC	0.647000													55	72					0	0	0.003610	0	0
MEIS2	4212	broad.mit.edu	37	15	37187432	37187432	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:37187432C>A	ENST00000338564.5	-	12	1492	c.1046G>T	c.(1045-1047)gGa>gTa	p.G349V	MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000559561.1_Missense_Mutation_p.G349V|MEIS2_ENST00000340545.5_Missense_Mutation_p.G336V|MEIS2_ENST00000382766.2_Missense_Mutation_p.G349V|MEIS2_ENST00000424352.2_Missense_Mutation_p.G356V|MEIS2_ENST00000397624.3_Missense_Mutation_p.G261V|MEIS2_ENST00000559085.1_Missense_Mutation_p.G343V|MEIS2_ENST00000561208.1_Missense_Mutation_p.G356V|MEIS2_ENST00000397620.2_Missense_Mutation_p.G261V|MEIS2_ENST00000444725.1_Missense_Mutation_p.G349V|MEIS2_ENST00000557796.2_Missense_Mutation_p.G336V|MEIS2_ENST00000219869.9_Missense_Mutation_p.G210V	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	356					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		ATATGCTGCTCCTTGGCTCAC	0.502000													11	32					5.50884e-06	8.42214e-06	0.001368	1	0
BCL2	596	broad.mit.edu	37	18	60795907	60795907	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:60795907G>A	ENST00000398117.1	-	2	2132	c.671C>T	c.(670-672)gCc>gTc	p.A224V	BCL2_ENST00000590515.1_5'UTR|BCL2_ENST00000333681.4_Missense_Mutation_p.A224V	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	224					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	TCCCACCAGGGCCAAACTGAG	0.537000			T	IGH@	"""NHL, CLL"""								15	14					0	0	0.003163	0	0
PUM2	23369	broad.mit.edu	37	2	20463139	20463139	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:20463139G>A	ENST00000361078.2	-	13	2062	c.2040C>T	c.(2038-2040)tcC>tcT	p.S680S	PUM2_ENST00000536417.1_Silent_p.S624S|PUM2_ENST00000319801.5_Silent_p.S601S|PUM2_ENST00000338086.5_Silent_p.S680S|PUM2_ENST00000403432.1_Silent_p.S680S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	680	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATAGACTGGAAGTGCTTG	0.458000													12	52					0	0	0.000978	0	0
EFCAB13	124989	broad.mit.edu	37	17	45479563	45479563	+	Silent	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:45479563T>C	ENST00000331493.2	+	18	2422	c.2011T>C	c.(2011-2013)Tta>Cta	p.L671L	EFCAB13_ENST00000517484.1_Silent_p.L575L	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TGCTGCCAGGTTAGAAGGTAA	0.323000													42	8					0	0	0.003610	0	0
KPRP	448834	broad.mit.edu	37	1	152733600	152733600	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152733600C>T	ENST00000368773.1	+	2	1594	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	KPRP_ENST00000606109.1_Silent_p.D512D	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	512						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCAGGAGACCTAGGCTGTC	0.637000													15	34					0	0	0.004007	0	0
HECW2	57520	broad.mit.edu	37	2	197183420	197183420	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:197183420C>T	ENST00000260983.2	-	9	2376	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	HECW2_ENST00000409111.1_Missense_Mutation_p.E376K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.E732K(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCCCCAGCTCCTCCTGGTCA	0.652000													8	18					0	0	0.003080	0	0
LARP4B	23185	broad.mit.edu	37	10	863676	863676	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:863676A>T	ENST00000316157.3	-	14	1724	c.1684T>A	c.(1684-1686)Tcc>Acc	p.S562T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	562							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTTTCTTTGGATGGTCCTATT	0.473000													97	122					0	0	0.003610	0	0
VNN2	8875	broad.mit.edu	37	6	133070844	133070844	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:133070844C>T	ENST00000326499.6	-	6	1485	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	VNN2_ENST00000525289.1_Missense_Mutation_p.G233E|VNN2_ENST00000525270.1_Missense_Mutation_p.G401E	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	454					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTCAAATTTTCCAGGTGACAG	0.368000													9	7					0	0	0.008291	0	0
PLCB2	5330	broad.mit.edu	37	15	40591081	40591081	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:40591081G>A	ENST00000260402.3	-	9	1017	c.768C>T	c.(766-768)tcC>tcT	p.S256S	PLCB2_ENST00000456256.2_Silent_p.S256S|PLCB2_ENST00000557821.1_Silent_p.S256S	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	256					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGAACAGCAGGGAGTTAAGCC	0.567000													18	30					0	0	0.002299	0	0
MYF6	4618	broad.mit.edu	37	12	81101673	81101673	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:81101673G>A	ENST00000228641.3	+	1	397	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	59					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CAGCAGCGGAGAGGAACATGT	0.627000													11	41					0	0	0.008291	0	0
FADS6	283985	broad.mit.edu	37	17	72875551	72875551	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:72875551C>T	ENST00000310226.6	-	5	903	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	303					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CACATGTTATCAGAGAGCCTG	0.597000													14	30					0	0	0.004990	0	0
ACSM2A	123876	broad.mit.edu	37	16	20482538	20482538	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:20482538G>A	ENST00000573854.1	+	5	854	c.740_splice	c.e5+1	p.G247_splice	ACSM2A_ENST00000417235.2_Splice_Site_p.G168_splice|ACSM2A_ENST00000219054.6_Splice_Site_p.G247_splice|ACSM2A_ENST00000396104.2_Splice_Site_p.G247_splice|ACSM2A_ENST00000575690.1_Splice_Site_p.G247_splice|ACSM2A_ENST00000536134.1_Splice_Site_p.G19_splice|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	247					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATGGATGCTGGGTAAGCTGAG	0.483000													23	24					0	0	0.007291	0	0
CFB	629	broad.mit.edu	37	6	31901724	31901724	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31901724C>T	ENST00000456570.1	+	4	566	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.P233S|C2_ENST00000418949.2_Missense_Mutation_p.P233S|C2_ENST00000442278.2_Missense_Mutation_p.P101S|CFB_ENST00000556679.1_Missense_Mutation_p.P171S|C2_ENST00000452323.2_Missense_Mutation_p.P110S			P00751	CFAB_HUMAN	complement factor B	240	Sushi 3.				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						GGCCACCAATCCCACCCAGAA	0.597000													64	177					0	0	0.003610	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564312	140564312	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:140564312G>A	ENST00000361016.2	+	1	3333	c.2178G>A	c.(2176-2178)tcG>tcA	p.S726S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		726					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGCTGCTCGATGCCTGAGG	0.662000													49	27					0	0	0.003610	0	0
MTUS2	23281	broad.mit.edu	37	13	29855896	29855896	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:29855896G>A	ENST00000431530.3	+	4	2788	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	900	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCCTTCTAAGGACACACCCA	0.537000													12	2					0	0	0.001855	0	0
RNF126	55658	broad.mit.edu	37	19	651691	651691	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:651691C>T	ENST00000292363.5	-	4	518	c.363G>A	c.(361-363)cgG>cgA	p.R121R		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	121							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGCCGTACCGGTGCCGGG	0.751000													6	2					0	0	0.001984	0	0
SNX29	92017	broad.mit.edu	37	16	12492328	12492328	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:12492328C>T	ENST00000566228.1	+	17	1994	c.1925C>T	c.(1924-1926)tCc>tTc	p.S642F	SNX29_ENST00000323433.4_Missense_Mutation_p.S257F|SNX29_ENST00000306030.3_Missense_Mutation_p.S257F	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	257					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGTCAAACGTCCGAAGACCAG	0.463000													46	60					0	0	0.003610	0	0
CTLA4	1493	broad.mit.edu	37	2	204737458	204737458	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:204737458G>A	ENST00000302823.3	+	4	752	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	CTLA4_ENST00000295854.6_Missense_Mutation_p.R162K|CTLA4_ENST00000472206.1_Missense_Mutation_p.R67K|CTLA4_ENST00000427473.2_Missense_Mutation_p.R125K|CTLA4_ENST00000487393.1_3'UTR	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	199					B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	TCTTACAACAGGGGTCTATGT	0.378000													16	19					0	0	0.006122	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327466	28327466	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28327466C>T	ENST00000377255.3	+	3	400	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.P35S|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	35					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGCCGGTTTTCCCAGTAGCCC	0.607000													51	145					0	0	0.003610	0	0
FGD5	152273	broad.mit.edu	37	3	14942551	14942551	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:14942551G>A	ENST00000285046.5	+	9	3357	c.3247G>A	c.(3247-3249)Gac>Aac	p.D1083N	FGD5_ENST00000543601.1_Missense_Mutation_p.D842N|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1083	DH.				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						CCGTGCCAACGACAGCATGGA	0.622000													34	36					0	0	0.002222	0	0
AMHR2	269	broad.mit.edu	37	12	53823728	53823728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:53823728G>A	ENST00000257863.4	+	9	1334	c.1254G>A	c.(1252-1254)tgG>tgA	p.W418*	AMHR2_ENST00000550311.1_Nonsense_Mutation_p.W418*|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	418	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TGCTCCTGTGGGAGATACTGA	0.587000													12	49					0	0	0.001368	0	0
ZNF117	51351	broad.mit.edu	37	7	64439054	64439054	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:64439054G>A	ENST00000282869.5	-	4	2179	c.895C>T	c.(895-897)Cat>Tat	p.H299Y		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	299						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTCCACTATGAATTCTCTTA	0.358000													6	19					0	0	0.001168	0	0
MYH13	8735	broad.mit.edu	37	17	10235437	10235437	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:10235437C>T	ENST00000418404.3	-	19	2440	c.2277G>A	c.(2275-2277)caG>caA	p.Q759Q	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Silent_p.Q759Q|MYH13_ENST00000252172.4_Silent_p.Q759Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	759	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGAACCTGAACTGCTCCCGGT	0.552000													16	11					0	0	0.004007	0	0
DGKK	139189	broad.mit.edu	37	X	50134557	50134557	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:50134557G>A	ENST00000376025.2	-	0	1781							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTCCAAGTGGGATGACTGCCA	0.512000													24	11					0	0	0.004656	0	0
ZNF768	79724	broad.mit.edu	37	16	30536502	30536502	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:30536502G>A	ENST00000380412.5	-	2	1134	c.959C>T	c.(958-960)cCc>cTc	p.P320L	ZNF768_ENST00000562803.1_Missense_Mutation_p.P289L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	320					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCCGCAACGGGGACATTTGTA	0.602000													16	11					0	0	0.006122	0	0
PITX2	5308	broad.mit.edu	37	4	111539353	111539353	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:111539353G>A	ENST00000354925.2	-	7	2587	c.882C>T	c.(880-882)ttC>ttT	p.F294F	PITX2_ENST00000394598.2_Silent_p.F294F|PITX2_ENST00000306732.3_Silent_p.F301F|PITX2_ENST00000355080.5_Silent_p.F248F|PITX2_ENST00000394595.3_3'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	294					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGGCGTAGCCGAAGCTGGAGT	0.627000													14	43					0	0	0.001855	0	0
ZNF287	57336	broad.mit.edu	37	17	16455369	16455369	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:16455369C>T	ENST00000395824.1	-	6	2704	c.2087G>A	c.(2086-2088)aGa>aAa	p.R696K	ZNF287_ENST00000395825.3_Missense_Mutation_p.R696K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	689					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTATGAGTTCTCTGATGTTG	0.368000													27	15					0	0	0.005443	0	0
SLC26A11	284129	broad.mit.edu	37	17	78222958	78222958	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:78222958C>T	ENST00000361193.3	+	16	1808	c.1528C>T	c.(1528-1530)Ccg>Tcg	p.P510S	SLC26A11_ENST00000546047.2_Missense_Mutation_p.P510S|SLC26A11_ENST00000572725.1_Missense_Mutation_p.P510S|SLC26A11_ENST00000411502.3_Missense_Mutation_p.P510S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	510	STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCCAGTGTCCCCGCCACGCTG	0.662000													7	4					0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21225031	21225031	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:21225031G>A	ENST00000233242.1	-	29	13390	c.13263C>T	c.(13261-13263)ttC>ttT	p.F4421F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4421					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTCAGAATGGAAGTCCTTAA	0.363000													96	337					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141763375	141763375	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:141763375C>T	ENST00000475668.2	+	36	4388	c.4334C>T	c.(4333-4335)cCc>cTc	p.P1445L	MGAM_ENST00000549489.2_Missense_Mutation_p.P1445L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1445	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACCACCCTCCCTACATGCCA	0.557000													9	0					0	0	0.006214	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34839359	34839359	+	Splice_Site	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:34839359A>T	ENST00000192788.5	+	19	4152		c.e19-1		UHRF1BP1_ENST00000452449.2_Splice_Site	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCTTTCCTGCAGGATGATATC	0.507000													19	45					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179440027	179440027	+	Missense_Mutation	SNP	G	G	A	rs72646891	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179440027G>A	ENST00000589042.1	-	326	71056	c.70832C>T	c.(70831-70833)gCg>gTg	p.A23611V	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A21970V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A14546V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A14671V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A14738V|TTN_ENST00000342992.6_Missense_Mutation_p.A21043V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21970	Fibronectin type-III 71.						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)			ACTTCTCCCCGCGCTGTTCAC	0.498000													13	15					0	0	0.004007	0	0
FCN2	2220	broad.mit.edu	37	9	137777198	137777198	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:137777198G>A	ENST00000350339.2	+	4	315	c.301G>A	c.(301-303)Gga>Aga	p.G101R	FCN2_ENST00000291744.6_Missense_Mutation_p.G139R	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	139	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGACACGGACGGAGGGGGCTG	0.657000													7	7					0	0	0.001984	0	0
ANKRD24	170961	broad.mit.edu	37	19	4222739	4222739	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:4222739C>T	ENST00000600132.1	+	20	3520	c.3244C>T	c.(3244-3246)Cct>Tct	p.P1082S	ANKRD24_ENST00000318934.4_Missense_Mutation_p.P1082S|ANKRD24_ENST00000262970.5_Missense_Mutation_p.P1172S	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1082										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCTCGCCACCCCTGAGGTGGA	0.597000													5	3					0	0	0.001168	0	0
TENM1	10178	broad.mit.edu	37	X	123778993	123778993	+	Splice_Site	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:123778993C>A	ENST00000422452.2	-	10	1939	c.1876_splice	c.e10+1	p.E626_splice	TENM1_ENST00000371130.3_Splice_Site_p.E626_splice	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGATTCTGACCTTCCTCGCAT	0.463000													26	20					7.92952e-12	1.21789e-11	0.003954	1	0
ADAMTS10	81794	broad.mit.edu	37	19	8670023	8670023	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:8670023G>A	ENST00000270328.4	-	3	575	c.309C>T	c.(307-309)tcC>tcT	p.S103S	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.S103S			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	103					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGTACTCCACGGAGACGTGCC	0.687000													15	6					0	0	0.002450	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996844	62996844	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:62996844G>A	ENST00000306494.6	-	1	280	c.281C>T	c.(280-282)cCc>cTc	p.P94L	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	94					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTTCCACTGGGGATGGACAAA	0.542000													38	17					0	0	0.004289	0	0
LCE1C	353133	broad.mit.edu	37	1	152777802	152777802	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152777802G>A	ENST00000368768.1	-	2	203	c.153C>T	c.(151-153)tgC>tgT	p.C51C	LCE1C_ENST00000607093.1_Silent_p.C51C	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	51	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGAGCCACAGCAGCCTCCGG	0.657000													12	43					0	0	0.002450	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858321	15858321	+	Missense_Mutation	SNP	C	C	T	rs144162434	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:15858321C>T	ENST00000285670.2	-	9	1412	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	SAMSN1_ENST00000400566.1_Missense_Mutation_p.G345E|SAMSN1_ENST00000400564.1_Missense_Mutation_p.G177E	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	345					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATCTGAATTTCCTGATGAGAT	0.428000													13	16					0	0	0.002450	0	0
FMOD	2331	broad.mit.edu	37	1	203317352	203317352	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:203317352G>A	ENST00000354955.4	-	2	510	c.47C>T	c.(46-48)tCc>tTc	p.S16F	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	16					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGGGCCTGGGAGAGGGAGAA	0.567000													9	39					0	0	0.006214	0	0
CSMD1	64478	broad.mit.edu	37	8	2964163	2964163	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:2964163C>T	ENST00000602557.1	-	47	7394	c.6838_splice	c.e47-1	p.G2280_splice	CSMD1_ENST00000537824.1_Splice_Site_p.G2279_splice|CSMD1_ENST00000602723.1_Splice_Site_p.G2280_splice|CSMD1_ENST00000542608.1_Splice_Site_p.G2279_splice|CSMD1_ENST00000400186.3_Splice_Site_p.G2280_splice|CSMD1_ENST00000520002.1_Splice_Site_p.G2280_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2280	Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACAAAATCTCCTAGAAGAGT	0.458000													5	8					0	0	0.000602	0	0
BEND2	139105	broad.mit.edu	37	X	18234686	18234686	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:18234686G>A	ENST00000380033.4	-	2	325	c.193C>T	c.(193-195)Cca>Tca	p.P65S	BEND2_ENST00000380030.3_Missense_Mutation_p.P65S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	65										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTGCCGCCTGGAAAATTTGGT	0.413000													43	16					0	0	0.003610	0	0
ZNF257	113835	broad.mit.edu	37	19	22271407	22271407	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22271407C>T	ENST00000594947.1	+	4	999	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAAGCCCTTCAAATATGATG	0.393000													11	3					0	0	0.008291	0	0
ZNF423	23090	broad.mit.edu	37	16	49670581	49670581	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:49670581C>T	ENST00000561648.1	-	4	2535	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	ZNF423_ENST00000262383.2_Missense_Mutation_p.E828K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E711K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E711K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E768K|ZNF423_ENST00000562871.1_Missense_Mutation_p.E768K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E768K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	828					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAGTGCTTCTCCCGCAGGTGC	0.572000													12	14					0	0	0.001368	0	0
MR1	3140	broad.mit.edu	37	1	181021477	181021477	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:181021477G>A	ENST00000367580.5	+	4	716	c.711G>A	c.(709-711)atG>atA	p.M237I	MR1_ENST00000282990.6_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.M192I|MR1_ENST00000438435.2_Intron|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	237	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						TGACATGGATGAAAAACGGGG	0.448000													13	32					0	0	0.002450	0	0
SYNE1	23345	broad.mit.edu	37	6	152725357	152725357	+	Silent	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:152725357T>C	ENST00000367255.5	-	46	7417	c.6816A>G	c.(6814-6816)ccA>ccG	p.P2272P	SYNE1_ENST00000265368.4_Silent_p.P2272P|SYNE1_ENST00000341594.5_Silent_p.P2309P|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000423061.1_Silent_p.P2279P|SYNE1_ENST00000448038.1_Silent_p.P2279P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2272					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGAAGGTCTGGCGGTGTTT	0.353000										HNSCC(10;0.0054)			29	22					0	0	0.007291	0	0
SALL3	27164	broad.mit.edu	37	18	76754335	76754335	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:76754335G>A	ENST00000536229.3	+	1	2654	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	SALL3_ENST00000575389.2_Missense_Mutation_p.E782K|SALL3_ENST00000537592.2_Missense_Mutation_p.E782K			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CATGGACTCCGAGCTGGCCTA	0.642000													8	11					0	0	0.008291	0	0
NOL4	8715	broad.mit.edu	37	18	31538223	31538223	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:31538223C>T	ENST00000261592.5	-	7	1513	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	NOL4_ENST00000589544.1_Missense_Mutation_p.E406K|NOL4_ENST00000269185.4_Missense_Mutation_p.E292K|NOL4_ENST00000535384.1_Missense_Mutation_p.E121K|NOL4_ENST00000535475.1_Missense_Mutation_p.E251K|NOL4_ENST00000538587.1_Missense_Mutation_p.E332K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	406						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTCAGCCGCTCGGCTTCAACG	0.463000													23	42					0	0	0.004656	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172122	207172122	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:207172122G>A	ENST00000374423.3	+	5	3256	c.2870G>A	c.(2869-2871)aGt>aAt	p.S957N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	957							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTGAAACAAGTTTGGATTCT	0.388000													9	26					0	0	0.004482	0	0
OR8D4	338662	broad.mit.edu	37	11	123777788	123777788	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:123777788C>T	ENST00000321355.2	+	1	680	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ATCATTATTTCATATGCTTTT	0.428000													38	26					0	0	0.006230	0	0
PVRL3	25945	broad.mit.edu	37	3	110852543	110852543	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:110852543C>T	ENST00000485303.1	+	6	1406	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	377					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CTGCTGACATCGAGGATCTAG	0.438000													16	13					0	0	0.003163	0	0
TTC31	64427	broad.mit.edu	37	2	74718727	74718727	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:74718727C>T	ENST00000410003.1	+	8	813	c.804C>T	c.(802-804)gcC>gcT	p.A268A	TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Intron|TTC31_ENST00000233623.5_Silent_p.A268A			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	268							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGGGTCTGGCCCTCCAGAAGA	0.587000													37	40					0	0	0.003271	0	0
CELSR1	9620	broad.mit.edu	37	22	46807619	46807619	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:46807619G>T	ENST00000262738.3	-	6	4648	c.4649C>A	c.(4648-4650)tCc>tAc	p.S1550Y		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1550	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTTTCCCCGGACGGCCCATG	0.587000													9	78					1.76689e-08	2.70406e-08	0.006214	1	0
STAB1	23166	broad.mit.edu	37	3	52556830	52556830	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:52556830G>A	ENST00000321725.6	+	62	6860	c.6784G>A	c.(6784-6786)Ggc>Agc	p.G2262S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2262	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTGGCCAATGGCTCCACTGC	0.612000													39	27					0	0	0.003610	0	0
RASA3	22821	broad.mit.edu	37	13	114748764	114748764	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:114748764G>A	ENST00000334062.7	-	24	2620	c.2499C>T	c.(2497-2499)tcC>tcT	p.S833S	RASA3_ENST00000389544.4_Silent_p.S801S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	833					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GACTTTAAATGGAATGAGTGG	0.602000													22	15					0	0	0.003330	0	0
PRSS16	10279	broad.mit.edu	37	6	27215814	27215814	+	Missense_Mutation	SNP	G	G	A	rs150849072	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:27215814G>A	ENST00000230582.3	+	2	239	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	PRSS16_ENST00000421826.2_Missense_Mutation_p.R75Q	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	75					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.R75Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCGACAGACGATCCTTCCTA	0.617000													20	13					0	0	0.001882	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185461	127185461	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:127185461C>T	ENST00000371124.3	-	1	921	c.725G>A	c.(724-726)aGa>aAa	p.R242K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	242						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATCTGGCAGTCTGTATGCTCC	0.542000													52	34					0	0	0.003610	0	0
RBM46	166863	broad.mit.edu	37	4	155719008	155719008	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:155719008G>A	ENST00000510397.1	+	3	376	c.197G>A	c.(196-198)gGa>gAa	p.G66E	RBM46_ENST00000281722.3_Missense_Mutation_p.G66E|RBM46_ENST00000514866.1_Missense_Mutation_p.G66E	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	66	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GTTTTTGTAGGAAAAATACCT	0.363000													20	38					0	0	0.003330	0	0
TSSC4	10078	broad.mit.edu	37	11	2424460	2424460	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:2424460C>T	ENST00000333256.6	+	3	1040	c.597C>T	c.(595-597)tcC>tcT	p.S199S	TSSC4_ENST00000451491.2_Silent_p.S199S|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000380996.5_Silent_p.S135S			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	199										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGCGTGTCCTCCTTCAACC	0.642000													126	71					0	0	0.003610	0	0
GPSM3	63940	broad.mit.edu	37	6	32159543	32159543	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32159543G>A	ENST00000375040.3	-	3	680	c.288C>T	c.(286-288)gcC>gcT	p.A96A	GPSM3_ENST00000487761.1_Silent_p.A93A|GPSM3_ENST00000375043.3_Silent_p.A96A	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	96					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						GACGGAGTGGGGCAGGGGCTA	0.617000													126	430					0	0	0.003610	0	0
ACP1	52	broad.mit.edu	37	2	271865	271865	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:271865G>A	ENST00000272067.6	+	2	139		c.e2-1		ACP1_ENST00000407983.3_Splice_Site|ACP1_ENST00000439645.2_Splice_Site|ACP1_ENST00000272065.5_Splice_Site|ACP1_ENST00000484464.1_Splice_Site|ACP1_ENST00000405233.1_Splice_Site	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble							cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		TTTTTTTAAAGGTAACATTTG	0.448000													46	49					0	0	0.003610	0	0
MAB21L3	126868	broad.mit.edu	37	1	116670178	116670178	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:116670178G>A	ENST00000369500.3	+	5	838	c.573G>A	c.(571-573)gtG>gtA	p.V191V	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	191										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TCCCCGCAGTGGAGATCCCCA	0.587000													36	29					0	0	0.004289	0	0
HIF3A	64344	broad.mit.edu	37	19	46832507	46832507	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:46832507C>T	ENST00000339613.2	+	12	1571	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	HIF3A_ENST00000420102.2_Missense_Mutation_p.S444F|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.S426F|HIF3A_ENST00000600383.1_Missense_Mutation_p.S426F|HIF3A_ENST00000377670.4_Missense_Mutation_p.S495F|HIF3A_ENST00000300862.3_Missense_Mutation_p.S493F|HIF3A_ENST00000472815.1_Intron			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCTACATCTCCATGGATGAT	0.622000													41	15					0	0	0.003610	0	0
ITPR2	3709	broad.mit.edu	37	12	26875362	26875362	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:26875362G>A	ENST00000381340.3	-	5	909	c.493C>T	c.(493-495)Ccg>Tcg	p.P165S	ITPR2_ENST00000242737.5_Missense_Mutation_p.P165S	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	165	MIR 1.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTCCAGAACGGATGAATATAA	0.383000													20	63					0	0	0.001882	0	0
ST14	6768	broad.mit.edu	37	11	130069969	130069969	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:130069969C>T	ENST00000278742.5	+	16	2349	c.1931C>T	c.(1930-1932)tCc>tTc	p.S644F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	644	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGCGGTGCTTCCCTCATCTCT	0.627000													17	8					0	0	0.008871	0	0
C14orf105	55195	broad.mit.edu	37	14	57960358	57960358	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:57960358G>A	ENST00000216445.3	-	1	212	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	C14orf105_ENST00000422976.2_Missense_Mutation_p.P26S|C14orf105_ENST00000534126.1_Missense_Mutation_p.P26S|C14orf105_ENST00000526336.1_Missense_Mutation_p.P26S	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	26										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCAGCCGAGGGAGTCTCTACC	0.453000													20	15					0	0	0.001523	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507009	26507009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:26507009C>T	ENST00000361530.6	+	2	263	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000374253.5_Nonsense_Mutation_p.Q40*			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	40	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAACCTGCTCCAGCTCTGCCC	0.632000													21	60					0	0	0.002299	0	0
OR13C3	138803	broad.mit.edu	37	9	107298654	107298654	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:107298654C>T	ENST00000374781.2	-	1	483	c.441G>A	c.(439-441)atG>atA	p.M147I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M147I(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CAAATGCCATCATGCCAAGAA	0.463000													45	35					0	0	0.003214	0	0
LIMK2	3985	broad.mit.edu	37	22	31658740	31658740	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:31658740G>A	ENST00000331728.4	+	7	931	c.817G>A	c.(817-819)Gag>Aag	p.E273K	LIMK2_ENST00000333611.4_Missense_Mutation_p.E252K|LIMK2_ENST00000406516.1_Missense_Mutation_p.E195K|LIMK2_ENST00000340552.4_Missense_Mutation_p.E252K|LIMK2_ENST00000444929.2_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	273						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGACACCAAGGAGAATCTGGA	0.632000													3	4					0	0	0.004672	0	0
OR51E2	81285	broad.mit.edu	37	11	4703590	4703590	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:4703590C>T	ENST00000396950.3	-	2	591	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CGGTCAAAGGCCATGGCCAGC	0.537000													12	9					0	0	0.000978	0	0
MYO19	80179	broad.mit.edu	37	17	34863697	34863697	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:34863697T>C	ENST00000431794.3	-	15	1820	c.1298A>G	c.(1297-1299)tAc>tGc	p.Y433C	MYO19_ENST00000268852.9_Missense_Mutation_p.Y433C	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	433	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCATTGGCGTAGTTGATGCA	0.532000													4	10					0	0	0.000602	0	0
STEAP3	55240	broad.mit.edu	37	2	120003228	120003228	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:120003228C>T	ENST00000354888.5	+	3	660	c.156C>T	c.(154-156)ttC>ttT	p.F52F	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Silent_p.F52F|STEAP3_ENST00000450943.2_Silent_p.F52F|STEAP3_ENST00000409811.1_Silent_p.F52F|STEAP3_ENST00000393110.2_Silent_p.F62F|STEAP3_ENST00000425223.2_Silent_p.F52F|STEAP3_ENST00000393108.2_Silent_p.F52F|STEAP3_ENST00000393107.2_Silent_p.F52F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	52					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCTCTGGCTTCAAAGTGGTGG	0.652000													14	11					0	0	0.002450	0	0
ENGASE	64772	broad.mit.edu	37	17	77073900	77073900	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:77073900C>T	ENST00000579016.1	+	3	370	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	124						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCAGAGGCCCCGGACTTTGTT	0.592000													38	15					0	0	0.004289	0	0
CSMD2	114784	broad.mit.edu	37	1	34008398	34008398	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:34008398C>T	ENST00000373381.4	-	58	9375	c.9199G>A	c.(9199-9201)Gga>Aga	p.G3067R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3041	Sushi 23.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCGTAGTATCCTTCCCGGCAC	0.577000													8	26					0	0	0.003080	0	0
CNTN3	5067	broad.mit.edu	37	3	74349059	74349059	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:74349059C>T	ENST00000263665.6	-	16	2153	c.2126G>A	c.(2125-2127)gGa>gAa	p.G709E		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	709	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCGCCTCCTCCATTGACTTC	0.438000													37	20					0	0	0.002852	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43654272	43654272	+	Silent	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:43654272C>A	ENST00000374466.3	+	3	1106	c.771C>A	c.(769-771)ctC>ctA	p.L257L	CSGALNACT2_ENST00000374464.1_Silent_p.L257L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	257					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTGGACCTCTCATGAAAGTGA	0.393000													8	42					0.000157383	0.000240369	0.003080	1	0
FSD2	123722	broad.mit.edu	37	15	83455883	83455883	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:83455883C>T	ENST00000334574.8	-	2	441	c.260G>A	c.(259-261)gGg>gAg	p.G87E	FSD2_ENST00000541889.1_Missense_Mutation_p.G87E			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	87										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AAACTCATCCCCTAATTCATG	0.458000													13	134					0	0	0.002450	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033004	41033004	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:41033004A>T	ENST00000380620.3	+	5	1110	c.518A>T	c.(517-519)aAa>aTa	p.K173I	B3GALT5_ENST00000380618.1_Missense_Mutation_p.K173I|B3GALT5_ENST00000343118.4_Missense_Mutation_p.K173I|B3GALT5_ENST00000398714.2_Missense_Mutation_p.K173I|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	173					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CTTCTGAAGAAAAACAGAACA	0.433000													18	39					0	0	0.008871	0	0
PEX5	5830	broad.mit.edu	37	12	7362423	7362423	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:7362423C>T	ENST00000266563.5	+	14	1777	c.1594C>T	c.(1594-1596)Ctc>Ttc	p.L532F	PEX5_ENST00000412720.2_Missense_Mutation_p.L590F|PEX5_ENST00000420616.2_Missense_Mutation_p.L569F|PEX5_ENST00000434354.2_Missense_Mutation_p.L584F|PEX5_ENST00000455147.2_Missense_Mutation_p.L569F|PEX5_ENST00000266564.3_Missense_Mutation_p.L561F	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	569					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CTGCATCAACCTCGGGGCTCA	0.522000													22	14					0	0	0.003330	0	0
MYPN	84665	broad.mit.edu	37	10	69961631	69961631	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:69961631A>G	ENST00000358913.5	+	18	4027	c.3539A>G	c.(3538-3540)aAc>aGc	p.N1180S	MYPN_ENST00000354393.2_Missense_Mutation_p.N905S|MYPN_ENST00000540630.1_Missense_Mutation_p.N1180S	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1180	Ig-like 5.|Interaction with ACTN.					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						AAACTACAGAACTGCGGTGTT	0.483000													33	22					0	0	0.002445	0	0
MEIS2	4212	broad.mit.edu	37	15	37187433	37187433	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:37187433C>T	ENST00000338564.5	-	12	1491	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000559561.1_Missense_Mutation_p.G349R|MEIS2_ENST00000340545.5_Missense_Mutation_p.G336R|MEIS2_ENST00000382766.2_Missense_Mutation_p.G349R|MEIS2_ENST00000424352.2_Missense_Mutation_p.G356R|MEIS2_ENST00000397624.3_Missense_Mutation_p.G261R|MEIS2_ENST00000559085.1_Missense_Mutation_p.G343R|MEIS2_ENST00000561208.1_Missense_Mutation_p.G356R|MEIS2_ENST00000397620.2_Missense_Mutation_p.G261R|MEIS2_ENST00000444725.1_Missense_Mutation_p.G349R|MEIS2_ENST00000557796.2_Missense_Mutation_p.G336R|MEIS2_ENST00000219869.9_Missense_Mutation_p.G210R	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	356					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TATGCTGCTCCTTGGCTCACT	0.502000													10	32					0	0	0.000978	0	0
BAI3	577	broad.mit.edu	37	6	70064186	70064186	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:70064186C>T	ENST00000370598.1	+	27	4342	c.3521C>T	c.(3520-3522)tCg>tTg	p.S1174L	BAI3_ENST00000546190.1_Missense_Mutation_p.S138L|BAI3_ENST00000238918.8_Missense_Mutation_p.S380L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1174	Poly-Ser.				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)				GCAGATTCTTCGAGTTCGTTT	0.393000													45	63					0	0	0.003610	0	0
CHRM2	1129	broad.mit.edu	37	7	136700313	136700313	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:136700313G>A	ENST00000445907.2	+	3	1229	c.701G>A	c.(700-702)aGt>aAt	p.S234N	AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S234N|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S234N|CHRM2_ENST00000397608.3_Missense_Mutation_p.S234N|CHRM2_ENST00000401861.1_Missense_Mutation_p.S234N|CHRM2_ENST00000320658.5_Missense_Mutation_p.S234N	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	234					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTTTCTCCAAGTCTGGTACAA	0.498000													4	10					0	0	0.000248	0	0
ADCY8	114	broad.mit.edu	37	8	131880139	131880139	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:131880139G>A	ENST00000286355.5	-	9	4255	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	721					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATAGAAGAACGATAAATGCAC	0.348000										HNSCC(32;0.087)			21	31					0	0	0.004656	0	0
CDH18	1016	broad.mit.edu	37	5	19571825	19571825	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:19571825G>A	ENST00000507958.1	-	10	2106	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CDH18_ENST00000274170.4_Silent_p.I372I|CDH18_ENST00000511273.1_Silent_p.I372I|CDH18_ENST00000382275.1_Silent_p.I372I|CDH18_ENST00000502796.1_Silent_p.I372I|CDH18_ENST00000506372.1_Silent_p.I372I			Q13634	CAD18_HUMAN	cadherin 18, type 2	372	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I372I(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCCAACAATGATCTTCAGCA	0.408000													10	17					0	0	0.006214	0	0
CYP2C18	1562	broad.mit.edu	37	10	96466555	96466555	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96466555C>T	ENST00000285979.6	+	5	856	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CYP2C18_ENST00000339022.5_Intron|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GCAATAATTTCCCTGCTCTCA	0.299000													8	7					0	0	0.006214	0	0
TRHR	7201	broad.mit.edu	37	8	110131462	110131462	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:110131462G>A	ENST00000518632.1	+	3	1326	c.975G>A	c.(973-975)caG>caA	p.Q325Q	TRHR_ENST00000311762.2_Silent_p.Q325Q			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	325						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCATGTCCCAGAAATTCCGTG	0.443000													6	64					0	0	0.003080	0	0
PDGFC	56034	broad.mit.edu	37	4	157689054	157689054	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:157689054C>T	ENST00000502773.1	-	5	1282	c.792G>A	c.(790-792)aaG>aaA	p.K264K	PDGFC_ENST00000542208.1_Silent_p.K109K|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000541126.1_Silent_p.K101K	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	264					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TATCGGTTCTCTTTAGTTCTT	0.448000													27	76					0	0	0.007291	0	0
NLRP12	91662	broad.mit.edu	37	19	54313804	54313804	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:54313804C>T	ENST00000324134.6	-	3	1277	c.1109G>A	c.(1108-1110)aGg>aAg	p.R370K	NLRP12_ENST00000354278.3_Missense_Mutation_p.R370K|NLRP12_ENST00000391772.1_Missense_Mutation_p.R370K|NLRP12_ENST00000535162.1_Missense_Mutation_p.R370K|NLRP12_ENST00000391775.3_Missense_Mutation_p.R370K|NLRP12_ENST00000345770.5_Missense_Mutation_p.R370K|NLRP12_ENST00000391773.1_Missense_Mutation_p.R370K|NLRP12_ENST00000351894.4_Missense_Mutation_p.R370K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	370	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTATTCCTTCCTTTCTGCCTC	0.542000													77	46					0	0	0.003610	0	0
BTK	695	broad.mit.edu	37	X	100625005	100625005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:100625005C>T	ENST00000308731.7	-	5	535	c.372G>A	c.(370-372)tgG>tgA	p.W124*	BTK_ENST00000372880.1_Nonsense_Mutation_p.W124*	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	124	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCTGGTGAATCCACCGCTTCC	0.428000									Agammaglobulinemia, X-linked				55	23					0	0	0.003610	0	0
WDR7	23335	broad.mit.edu	37	18	54385259	54385259	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:54385259G>A	ENST00000254442.3	+	13	1854	c.1643G>A	c.(1642-1644)cGa>cAa	p.R548Q	WDR7_ENST00000357574.3_Missense_Mutation_p.R548Q|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	548										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CTAAGTTTGCGAGAGAAAAAA	0.408000													18	25					0	0	0.008871	0	0
SCN11A	11280	broad.mit.edu	37	3	38889207	38889207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:38889207G>A	ENST00000450244.1	-	26	4552	c.4354C>T	c.(4354-4356)Cag>Tag	p.Q1452*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Q1414*|SCN11A_ENST00000302328.3_Nonsense_Mutation_p.Q1452*			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1452					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTGCTCCTGATTTTCCAAG	0.507000													16	4					0	0	0.007413	0	0
LRRC10	376132	broad.mit.edu	37	12	70004303	70004303	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:70004303C>T	ENST00000361484.3	-	1	639	c.316G>A	c.(316-318)Ggc>Agc	p.G106S		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	106						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGTTGTTGCCCAGGTAGAGG	0.572000													5	31					0	0	0.000602	0	0
FUK	197258	broad.mit.edu	37	16	70500891	70500891	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:70500891C>T	ENST00000428974.2	+	5	525	c.467C>T	c.(466-468)tCg>tTg	p.S156L	FUK_ENST00000288078.6_Intron|FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Intron			Q8N0W3	FUK_HUMAN	fucokinase	612						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGCCTTCCTTCGTCACAGCCA	0.637000													10	24					0	0	0.006214	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044171	71044171	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:71044171G>A	ENST00000272367.2	-	4	418	c.342C>T	c.(340-342)tcC>tcT	p.S114S	CLEC4F_ENST00000426626.1_Silent_p.S114S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	114					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCCAGGCACTGGAATTCTCCA	0.502000													29	29					0	0	0.007291	0	0
CDHR1	92211	broad.mit.edu	37	10	85974117	85974117	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:85974117C>T	ENST00000372117.3	+	17	2423	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S	CDHR1_ENST00000440770.2_Missense_Mutation_p.P478S|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	774	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGAGAAACCTCCCAATGAGAA	0.617000													16	58					0	0	0.004007	0	0
CNGB1	1258	broad.mit.edu	37	16	58001052	58001052	+	Missense_Mutation	SNP	C	C	T	rs78149232	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:58001052C>T	ENST00000564448.1	-	2	199	c.139G>A	c.(139-141)Gag>Aag	p.E47K	CNGB1_ENST00000311183.4_Missense_Mutation_p.E47K|CNGB1_ENST00000251102.8_Missense_Mutation_p.E47K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	47	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GACTCTGTCTCGGCCTCCTCA	0.627000													41	27					0	0	0.003610	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023395	193023395	+	Silent	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:193023395A>C	ENST00000342358.4	-	23	2748	c.2631T>G	c.(2629-2631)ccT>ccG	p.P877P	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	877					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.P877P(1)		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)		TAGAGGTAAAAGGGGATGCCA	0.468000													9	79					0	0	0.000978	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122388	31122388	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31122388C>T	ENST00000396268.3	-	4	874	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	CCHCR1_ENST00000396263.2_Missense_Mutation_p.R140Q|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R193Q|CCHCR1_ENST00000376266.5_Missense_Mutation_p.R140Q|CCHCR1_ENST00000480060.1_Intron	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	140					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGCCTCAGCTCGGCCGGCCTT	0.662000													149	144					0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34208974	34208974	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:34208974G>A	ENST00000373381.4	-	14	2256	c.2080C>T	c.(2080-2082)Ccc>Tcc	p.P694S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	654	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGAGGAGGGAAGCTGGTTT	0.582000													10	45					0	0	0.006214	0	0
A4GALT	53947	broad.mit.edu	37	22	43089219	43089219	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:43089219C>T	ENST00000401850.1	-	2	1228	c.739G>A	c.(739-741)Ggt>Agt	p.G247S	A4GALT_ENST00000249005.2_Missense_Mutation_p.G247S|A4GALT_ENST00000381278.3_Missense_Mutation_p.G247S			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	247					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CCCTGGTGACCCCAGATCCAG	0.677000													3	7					0	0	0.004672	0	0
ADH1B	125	broad.mit.edu	37	4	100237184	100237184	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:100237184G>A	ENST00000305046.8	-	5	505	c.438C>T	c.(436-438)acC>acT	p.T146T	ADH1B_ENST00000394887.3_Silent_p.T106T			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	146					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACTGGGAGAAGGTGCTGGTGC	0.587000													27	37					0	0	0.005443	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19406906	19406906	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:19406906C>T	ENST00000538714.1	+	4	264	c.260C>T	c.(259-261)cCa>cTa	p.P87L	PLEKHA5_ENST00000543806.1_5'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.P87L|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.P87L|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.P87L|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.P87L|PLEKHA5_ENST00000424268.1_5'UTR|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.P87L|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.P87L	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	87	WW 2.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TGCAAACATCCAGTCACAGGA	0.333000													68	40					0	0	0.003610	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762629	37762629	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:37762629T>G	ENST00000302584.4	-	2	444	c.224A>C	c.(223-225)gAg>gCg	p.E75A		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	75					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			ctcgccttcctcctTGACCTC	0.716000													6	0					0	0	0.001168	0	0
TRPM8	79054	broad.mit.edu	37	2	234873370	234873370	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:234873370G>A	ENST00000324695.4	+	14	1888	c.1848G>A	c.(1846-1848)gaG>gaA	p.E616E	TRPM8_ENST00000433712.2_Silent_p.E304E	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	616						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGTCCGAGGAGCTGGCTAATG	0.597000													10	33					0	0	0.002450	0	0
OR1J4	26219	broad.mit.edu	37	9	125281530	125281530	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:125281530C>T	ENST00000340750.1	+	1	111	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TGTACCTGATCACGGTGCTGG	0.562000													54	40					0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166901716	166901716	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:166901716C>T	ENST00000423058.2	-	10	1516	c.1499G>A	c.(1498-1500)cGg>cAg	p.R500Q	SCN1A_ENST00000409050.1_Missense_Mutation_p.R500Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.R500Q|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R500Q|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	500						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R500Q(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTCTTCCTCCGATTTCTTCT	0.463000													61	63					0	0	0.003610	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995673	19995673	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:19995673G>A	ENST00000391403.2	-	1	2205	c.2102C>T	c.(2101-2103)cCa>cTa	p.P701L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	701	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAATAATCTGGAGAAGCTCC	0.488000													16	26					0	0	0.004990	0	0
ZMYND11	10771	broad.mit.edu	37	10	267225	267225	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:267225C>T	ENST00000309776.4	+	4	795	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000402736.1_Missense_Mutation_p.H123Y|ZMYND11_ENST00000397962.3_Missense_Mutation_p.H123Y|ZMYND11_ENST00000509513.2_Missense_Mutation_p.H123Y|ZMYND11_ENST00000381602.4_Missense_Mutation_p.H83Y|ZMYND11_ENST00000381584.1_Missense_Mutation_p.H106Y|ZMYND11_ENST00000381604.4_Missense_Mutation_p.H83Y|ZMYND11_ENST00000381591.1_Missense_Mutation_p.H123Y|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000558098.2_Missense_Mutation_p.H123Y|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000381607.4_Intron	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	83					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGTGTGTATCATTCCAAGTG	0.453000													42	48					0	0	0.006999	0	0
SSTR4	6754	broad.mit.edu	37	20	23016129	23016129	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:23016129C>T	ENST00000255008.3	+	1	73	c.9C>T	c.(7-9)gcC>gcT	p.A3A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	3					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCATGAGCGCCCCCTCGACGC	0.786000													4	5					0	0	0.000602	0	0
SRMS	6725	broad.mit.edu	37	20	62175640	62175640	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:62175640C>T	ENST00000217188.1	-	2	458	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	140	SH2.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCCCCTGGTTCGTTGGGTGGG	0.672000													4	4					0	0	0.001168	0	0
WFDC6	140870	broad.mit.edu	37	20	44163068	44163068	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:44163068G>A	ENST00000600168.1	-	4	559	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	WFDC6_ENST00000372670.3_3'UTR					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				TCAGGCACACGTGGAGAGAGG	0.478000													46	61					0	0	0.003610	0	0
FAM171B	165215	broad.mit.edu	37	2	187627229	187627229	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:187627229C>T	ENST00000304698.5	+	8	2363	c.2160C>T	c.(2158-2160)ctC>ctT	p.L720L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	720						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTAGAAAGCTCGAGAGGGAGA	0.458000													13	25					0	0	0.001368	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635433	122635433	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:122635433C>T	ENST00000249284.2	-	1	321	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	86					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTAAAAAATTCCCAGGTGATT	0.393000													7	22					0	0	0.001984	0	0
DAPK1	1612	broad.mit.edu	37	9	90258300	90258300	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:90258300C>T	ENST00000469640.2	+	11	1303	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DAPK1_ENST00000408954.3_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R310C|DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C			P53355	DAPK1_HUMAN	death-associated protein kinase 1	310	Calmodulin-binding.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCAATCCGTTCGCTTGATATC	0.428000									Chronic Lymphocytic Leukemia, Familial Clustering of				13	9					0	0	0.001368	0	0
SPDEF	25803	broad.mit.edu	37	6	34511830	34511830	+	Missense_Mutation	SNP	C	C	T	rs146713427	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:34511830C>T	ENST00000374037.3	-	2	817	c.403G>A	c.(403-405)Gag>Aag	p.E135K	SPDEF_ENST00000544425.1_Missense_Mutation_p.E135K	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	135	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CAGGCCGTCTCGATGTCCTTG	0.642000													18	30					0	0	0.001523	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149004	103149004	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:103149004C>T	ENST00000295269.4	+	12	2711	c.2254C>T	c.(2254-2256)Cat>Tat	p.H752Y		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	752					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTCTGTTTCATGCAGTGGA	0.532000													9	14					0	0	0.004482	0	0
SELP	6403	broad.mit.edu	37	1	169578799	169578799	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:169578799C>T	ENST00000263686.6	-	8	1313	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	SELP_ENST00000367786.2_Missense_Mutation_p.D364N|SELP_ENST00000367794.2_Missense_Mutation_p.D364N|SELP_ENST00000367793.2_Missense_Mutation_p.D364N|SELP_ENST00000367792.2_Missense_Mutation_p.D364N|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.D364N|SELP_ENST00000367788.2_Missense_Mutation_p.D364N	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	426	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGAACTATATCGGCTCCTCTC	0.498000													22	43					0	0	0.003954	0	0
CYP4F8	11283	broad.mit.edu	37	19	15726592	15726592	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:15726592G>A	ENST00000441682.2	+	0	229							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CGCAGCCCCGGAAACAGAACT	0.642000													31	17					0	0	0.002836	0	0
COL4A4	1286	broad.mit.edu	37	2	227898170	227898170	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:227898170C>T	ENST00000396625.3	-	38	3740	c.3533G>A	c.(3532-3534)gGc>gAc	p.G1178D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1178D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1178	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCATGCAAGCCGTTCAGGCC	0.517000											OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	24					0	0	0.001168	0	0
TMEM255B	348013	broad.mit.edu	37	13	114507929	114507929	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:114507929C>T	ENST00000375353.3	+	8	768	c.741C>T	c.(739-741)atC>atT	p.I247I	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1			transmembrane protein 255B																		CCCAGCAGATCCTGGCCTACG	0.677000													35	16					0	0	0.003755	0	0
DLGAP4	22839	broad.mit.edu	37	20	35061085	35061085	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:35061085C>T	ENST00000373913.3	+	3	1445	c.965C>T	c.(964-966)tCc>tTc	p.S322F	DLGAP4_ENST00000401952.2_Missense_Mutation_p.S322F|DLGAP4_ENST00000373907.2_Missense_Mutation_p.S322F|DLGAP4_ENST00000339266.5_Missense_Mutation_p.S322F			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	322					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGTCCAAATCCTGCCACCAG	0.612000													10	32					0	0	0.001855	0	0
BCMO1	53630	broad.mit.edu	37	16	81324033	81324033	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:81324033G>A	ENST00000258168.2	+	11	1956	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	BCMO1_ENST00000425577.2_Missense_Mutation_p.E430K	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	499					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AAGCTTTACGGAATTGGCCCG	0.443000													30	37					0	0	0.002096	0	0
FSHR	2492	broad.mit.edu	37	2	49190007	49190007	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:49190007G>A	ENST00000406846.2	-	10	2072	c.1953C>T	c.(1951-1953)gcC>gcT	p.A651A	FSHR_ENST00000346173.3_Silent_p.A589A|FSHR_ENST00000541117.1_Silent_p.A387A|FSHR_ENST00000304421.4_Silent_p.A625A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	651					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TATAAATTTGGGCTTGCATTT	0.473000									Gonadal Dysgenesis, 46 XX				6	23					0	0	0.001984	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811554	5811554	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:5811554C>T	ENST00000381095.3	-	6	2382	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	NLGN4X_ENST00000538097.1_Silent_p.T585T|NLGN4X_ENST00000275857.6_Silent_p.T585T|NLGN4X_ENST00000381093.2_Silent_p.T605T|NLGN4X_ENST00000381092.1_Silent_p.T585T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	585					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.T585T(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGCCACTTTCGTTGCCCGGT	0.463000													55	32					0	0	0.003610	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676920	7676920	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:7676920C>T	ENST00000446248.2	+	13	1723	c.1622C>T	c.(1621-1623)aCc>aTc	p.T541I	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.T514I	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	514	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GACAGGCCCACCAAAGCACCA	0.662000													12	10					0	0	0.001368	0	0
FLG2	388698	broad.mit.edu	37	1	152328226	152328226	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152328226G>A	ENST00000388718.5	-	3	2108	c.2036C>T	c.(2035-2037)tCt>tTt	p.S679F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	679	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAACCAGAGGATTGTCC	0.483000													69	140					0	0	0.003610	0	0
ZMYND8	23613	broad.mit.edu	37	20	45927672	45927672	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:45927672G>A	ENST00000311275.7	-	4	447	c.194C>T	c.(193-195)cCg>cTg	p.P65L	ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P92L|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P85L|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P85L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P65L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P85L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P65L|ZMYND8_ENST00000468376.2_Intron			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	65							protein binding|zinc ion binding	p.P85L(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATAGTAAAACGGACCATGTCT	0.423000													17	88					0	0	0.001523	0	0
PTX4	390667	broad.mit.edu	37	16	1537891	1537891	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:1537891G>A	ENST00000447419.2	-	2	247	c.222C>T	c.(220-222)gtC>gtT	p.V74V	PTX4_ENST00000293922.1_Silent_p.V69V|PTX4_ENST00000440447.2_Silent_p.V74V			Q96A99	PTX4_HUMAN	pentraxin 4, long	74						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCCGGAACCGGACGTCAACGT	0.622000													20	77					0	0	0.001882	0	0
TINAG	27283	broad.mit.edu	37	6	54173598	54173598	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:54173598G>A	ENST00000259782.4	+	1	346	c.250G>A	c.(250-252)Gat>Aat	p.D84N	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.D80N|TINAG_ENST00000370864.3_Missense_Mutation_p.D66N	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	84	SMB.				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTGCTACTGTGATAAATTCTG	0.448000													55	104					0	0	0.003610	0	0
ISLR	3671	broad.mit.edu	37	15	74468479	74468479	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:74468479C>T	ENST00000249842.3	+	2	1637	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.S427F	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	427					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TTCCTCACCTCCTTCTAGCCC	0.642000													8	24					0	0	0.004482	0	0
GSDMB	55876	broad.mit.edu	37	17	38063221	38063221	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:38063221G>A	ENST00000418519.1	-	7	850	c.720C>T	c.(718-720)tcC>tcT	p.S240S	GSDMB_ENST00000394179.1_Intron|GSDMB_ENST00000360317.3_Silent_p.S240S|GSDMB_ENST00000520542.1_Intron|GSDMB_ENST00000394175.2_Intron|GSDMB_ENST00000309481.7_Silent_p.S227S	NM_001165958.1	NP_001159430.1	Q8TAX9	GSDMB_HUMAN	gasdermin B	237						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TACCTAAACAGGATGAAGCAC	0.522000													30	56					0	0	0.003755	0	0
TM7SF3	51768	broad.mit.edu	37	12	27148241	27148241	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:27148241T>C	ENST00000343028.4	-	5	844	c.619A>G	c.(619-621)Act>Gct	p.T207A	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	207						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATCTCCTCAGTGAGGTCATTC	0.527000													40	58					0	0	0.008740	0	0
LRIT1	26103	broad.mit.edu	37	10	86001152	86001152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:86001152C>T	ENST00000372105.3	-	1	65	c.44G>A	c.(43-45)tGg>tAg	p.W15*		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	15						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CTGGGGGGGCCACGCAAGGGC	0.667000													12	2					0	0	0.001368	0	0
SLC41A1	254428	broad.mit.edu	37	1	205764127	205764127	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:205764127G>A	ENST00000367137.3	-	10	2241	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	409						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGGACCCGGGCTGAGCGAG	0.567000													8	29					0	0	0.008291	0	0
RHOU	58480	broad.mit.edu	37	1	228873457	228873457	+	Silent	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:228873457A>G	ENST00000366691.3	+	2	966	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	100					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TGAGACTCCAACTCTGTGACA	0.458000													8	53					0	0	0.006214	0	0
GCDH	2639	broad.mit.edu	37	19	13007225	13007225	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:13007225C>T	ENST00000222214.5	+	8	1053	c.842C>T	c.(841-843)tCc>tTc	p.S281F	GCDH_ENST00000591470.1_Missense_Mutation_p.S281F|GCDH_ENST00000422947.2_Missense_Mutation_p.S237F|GCDH_ENST00000457854.1_Missense_Mutation_p.S281F			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	281					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CCTGGTGCATCCAGCCTGGGG	0.637000													9	2					0	0	0.008291	0	0
GON4L	54856	broad.mit.edu	37	1	155735709	155735709	+	Silent	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:155735709A>C	ENST00000437809.1	-	21	3677	c.3555T>G	c.(3553-3555)gtT>gtG	p.V1185V	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.V1185V|GON4L_ENST00000361040.5_Silent_p.V1185V|GON4L_ENST00000271883.5_Silent_p.V1185V			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1185					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAGTAGGGTTAACCAAGAGGG	0.507000													11	46					0	0	0.000978	0	0
SAMD9	54809	broad.mit.edu	37	7	92731534	92731534	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:92731534G>A	ENST00000379958.2	-	3	4146	c.3877C>T	c.(3877-3879)Cgg>Tgg	p.R1293W		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1293						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTTTCTCCGAGTTTTGGCC	0.333000													16	60					0	0	0.004990	0	0
GPX6	257202	broad.mit.edu	37	6	28474202	28474202	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28474202C>T	ENST00000361902.1	-	3	295	c.246G>A	c.(244-246)ctG>ctA	p.L82L	GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000474923.1_Silent_p.L82L	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	82					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GTAGTGCATTCAGTTCTGTAA	0.438000													17	44					0	0	0.007413	0	0
FRMD1	79981	broad.mit.edu	37	6	168468049	168468049	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:168468049C>T	ENST00000283309.6	-	3	446	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.E60K	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	128	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		ACACTTACTTCATTTCTTTCT	0.512000													33	19					0	0	0.003755	0	0
WNK2	65268	broad.mit.edu	37	9	96030984	96030984	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:96030984C>T	ENST00000297954.4	+	18	3989	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L	WNK2_ENST00000427277.2_Missense_Mutation_p.S942L|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.S1330L|WNK2_ENST00000349097.3_Missense_Mutation_p.S942L|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1330					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.S1316L(1)|p.S1330L(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGAATCTTCGCCCCCACTT	0.617000													11	6					0	0	0.003163	0	0
BAI2	576	broad.mit.edu	37	1	32196485	32196485	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:32196485G>A	ENST00000373658.3	-	29	4637	c.4296C>T	c.(4294-4296)gcC>gcT	p.A1432A	BAI2_ENST00000398547.1_Silent_p.A1365A|BAI2_ENST00000398556.3_Silent_p.A1347A|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.A1041A|BAI2_ENST00000398542.1_Silent_p.A1332A|BAI2_ENST00000373655.2_Silent_p.A1432A|BAI2_ENST00000398538.1_Silent_p.A1420A|BAI2_ENST00000257070.4_Silent_p.A1399A|BAI2_ENST00000527361.1_Silent_p.A1399A	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1432					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCACTTGGCGGGCGCTGGGTG	0.677000													39	35					0	0	0.002852	0	0
WNT8B	7479	broad.mit.edu	37	10	102239735	102239735	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:102239735C>T	ENST00000343737.5	+	3	335	c.207C>T	c.(205-207)gcC>gcT	p.A69A		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	69					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CTGAGAGAGCCCTGCAGCTGT	0.572000													13	32					0	0	0.001368	0	0
PRDM9	56979	broad.mit.edu	37	5	23527654	23527654	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:23527654C>T	ENST00000296682.3	+	11	2639	c.2457C>T	c.(2455-2457)ctC>ctT	p.L819L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	819					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						AGTCACACCTCCTCAGACACC	0.562000										HNSCC(3;0.000094)			71	55					0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	42080515	42080515	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:42080515G>A	ENST00000400454.1	-	2	703	c.226C>T	c.(226-228)Cac>Tac	p.H76Y		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	76	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGTTGGGGTGGACGTGGCGG	0.542000													32	45					0	0	0.008361	0	0
PTPRT	11122	broad.mit.edu	37	20	40770569	40770569	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:40770569C>T	ENST00000373198.3	-	19	3057	c.2822G>A	c.(2821-2823)gGg>gAg	p.G941E	PTPRT_ENST00000373187.1_Missense_Mutation_p.G919E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G918E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G922E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G909E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G909E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G928E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	919	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TATGATGTTCCCATATCGATT	0.473000													32	194					0	0	0.003271	0	0
DNAH9	1770	broad.mit.edu	37	17	11833300	11833300	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:11833300G>A	ENST00000262442.3	+	63	12063	c.11995G>A	c.(11995-11997)Gag>Aag	p.E3999K	DNAH9_ENST00000396001.2_Missense_Mutation_p.E311K|DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3999	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCCTCCCCTGAGGGCCACAT	0.592000													12	5					0	0	0.002450	0	0
DPP4	1803	broad.mit.edu	37	2	162881449	162881449	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:162881449C>T	ENST00000360534.3	-	11	1448	c.887_splice	c.e11-1	p.G296_splice		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	296					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.G296G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AGTAGTGATCCCTggaaggaa	0.403000													27	18					0	0	0.004656	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907949	12907949	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:12907949G>A	ENST00000317869.6	-	2	419	c.194C>T	c.(193-195)gCt>gTt	p.A65V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGCTACAGCAGCCCGGGCATT	0.483000													15	64					0	0	0.004990	0	0
TPO	7173	broad.mit.edu	37	2	1500508	1500508	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:1500508G>A	ENST00000345913.4	+	13	2448	c.2357G>A	c.(2356-2358)gGa>gAa	p.G786E	TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.G786E|TPO_ENST00000382198.1_Missense_Mutation_p.G613E|TPO_ENST00000382201.3_Missense_Mutation_p.G729E|TPO_ENST00000346956.3_Missense_Mutation_p.G786E|TPO_ENST00000349624.3_Missense_Mutation_p.G613E|TPO_ENST00000329066.4_Missense_Mutation_p.G786E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	786	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACCCAGGAAGGATGGGATTTC	0.507000													33	65					0	0	0.003755	0	0
RYR1	6261	broad.mit.edu	37	19	39025368	39025368	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:39025368G>A	ENST00000355481.4	+	78	11384	c.11253G>A	c.(11251-11253)caG>caA	p.Q3751Q	RYR1_ENST00000360985.3_Silent_p.Q3756Q|RYR1_ENST00000359596.3_Silent_p.Q3756Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3756					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGAGAAACAGATGGAGAAGC	0.602000													16	16					0	0	0.004990	0	0
TCL6	27004	broad.mit.edu	37	14	96129881	96129881	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:96129881C>T	ENST00000467865.1	+	0	289				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		cacctgtttTCATGCTATCTC	0.547000			T	TRA@	T-ALL								7	12					0	0	0.001984	0	0
EVI5L	115704	broad.mit.edu	37	19	7912683	7912683	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:7912683C>T	ENST00000270530.4	+	3	399	c.203C>T	c.(202-204)tCg>tTg	p.S68L	EVI5L_ENST00000538904.2_Missense_Mutation_p.S68L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	68						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						AGTGGCTCCTCGCTAGTGTCC	0.662000													8	9					0	0	0.003080	0	0
CEP89	84902	broad.mit.edu	37	19	33417176	33417176	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:33417176C>T	ENST00000305768.4	-	11	1172	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	362						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TACTTTATATCCAACTGAAGA	0.368000													72	53					0	0	0.003610	0	0
C6orf118	168090	broad.mit.edu	37	6	165715409	165715409	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:165715409G>A	ENST00000543069.1	-	2	671	c.90C>T	c.(88-90)ccC>ccT	p.P30P	C6orf118_ENST00000230301.8_Silent_p.P134P			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	134										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GAGAGGCCTGGGGGTTCAGGT	0.622000													34	17					0	0	0.004289	0	0
GIF	2694	broad.mit.edu	37	11	59604768	59604768	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:59604768C>T	ENST00000541311.1	-	6	909	c.675G>A	c.(673-675)acG>acA	p.T225T	GIF_ENST00000257248.2_Silent_p.T250T			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	250					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTATCATATCCGTAGTCTTCT	0.443000													12	9					0	0	0.001855	0	0
CRISP2	7180	broad.mit.edu	37	6	49660530	49660530	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:49660530C>T	ENST00000339139.4	-	10	924	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	230						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGCACTTTTCCTTGAGTAAC	0.393000													35	60					0	0	0.004289	0	0
WDR17	116966	broad.mit.edu	37	4	177067288	177067288	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:177067288C>T	ENST00000393643.2	+	12	1924	c.1672C>T	c.(1672-1674)Ctt>Ttt	p.L558F	WDR17_ENST00000507824.2_Missense_Mutation_p.L565F|WDR17_ENST00000508596.1_Missense_Mutation_p.L558F|WDR17_ENST00000280190.4_Missense_Mutation_p.L582F	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	582										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGAGGGAATTCTTTGCAGTGG	0.338000													34	60					0	0	0.007835	0	0
KRT83	3889	broad.mit.edu	37	12	52714792	52714792	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:52714792C>T	ENST00000293670.3	-	1	390	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	110	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTTCTCCTCCTGCTTCACG	0.602000													51	70					0	0	0.003610	0	0
PRDM9	56979	broad.mit.edu	37	5	23522775	23522775	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:23522775C>T	ENST00000296682.3	+	8	845	c.663C>T	c.(661-663)ccC>ccT	p.P221P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	221					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						CCCATGGGCCCCCTACATTTG	0.532000										HNSCC(3;0.000094)			17	21					0	0	0.006122	0	0
C2CD3	26005	broad.mit.edu	37	11	73879531	73879531	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:73879531G>A	ENST00000334126.7	-	2	409	c.183C>T	c.(181-183)gtC>gtT	p.V61V	C2CD3_ENST00000313663.7_Silent_p.V61V|C2CD3_ENST00000539061.1_Silent_p.V61V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	61						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATCTCACTCGGACAAGTACAC	0.473000													29	19					0	0	0.006320	0	0
PNPLA7	375775	broad.mit.edu	37	9	140373553	140373553	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:140373553G>A	ENST00000406427.1	-	24	3054	c.2718C>T	c.(2716-2718)ctC>ctT	p.L906L	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.L881L|PNPLA7_ENST00000371457.1_Silent_p.L487L	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	881					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCGGGCAGCAGAGGTGCAGGT	0.687000													6	4					0	0	0.003080	0	0
MMP16	4325	broad.mit.edu	37	8	89058897	89058897	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:89058897C>T	ENST00000286614.6	-	9	1770	c.1489_splice	c.e9+1	p.G497_splice		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	497	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGTTGCATACCATTTTCTTTG	0.393000													10	33					0	0	0.006214	0	0
TENM3	55714	broad.mit.edu	37	4	183659578	183659578	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:183659578C>T	ENST00000511685.1	+	18	3383	c.3260C>T	c.(3259-3261)tCg>tTg	p.S1087L	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.S1087L					teneurin transmembrane protein 3																		GAGTATGAGTCGTGTTTGGAC	0.433000													113	154					0	0	0.003610	0	0
ARMC1	55156	broad.mit.edu	37	8	66539522	66539522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:66539522G>A	ENST00000276569.3	-	2	356	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000458464.2_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	38					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AGACATCCCTGATCCTGGACG	0.478000													23	78					0	0	0.002780	0	0
SLC22A20	440044	broad.mit.edu	37	11	64985149	64985149	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:64985149C>T	ENST00000525437.1	+	0	662							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ATCCTCAACTCCGTCTCCCTG	0.652000													12	15					0	0	0.002450	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802939	185802939	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:185802939G>A	ENST00000302277.6	+	4	3410	c.2816G>A	c.(2815-2817)aGa>aAa	p.R939K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	939						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACAAAGAAAGAAGTGAGAAT	0.378000													13	29					0	0	0.001368	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536922	146536922	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:146536922G>T	ENST00000361727.3	+	3	844	c.328G>T	c.(328-330)Gtg>Ttg	p.V110L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	110	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCAGATTGGGTGACCCAATA	0.478000										HNSCC(39;0.1)			27	22					2.85442e-18	4.39762e-18	0.002096	1	0
HYDIN	54768	broad.mit.edu	37	16	71127790	71127790	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:71127790G>A	ENST00000393567.2	-	11	1526	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	HYDIN_ENST00000538248.1_Missense_Mutation_p.P486L|HYDIN_ENST00000448691.1_Missense_Mutation_p.P459L|HYDIN_ENST00000448089.2_Missense_Mutation_p.P459L|HYDIN_ENST00000393550.2_Missense_Mutation_p.P459L|HYDIN_ENST00000321489.5_Missense_Mutation_p.P459L|HYDIN_ENST00000288168.10_Missense_Mutation_p.P476L|HYDIN_ENST00000541601.1_Missense_Mutation_p.P476L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	459										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTGAATCTTAGGTCCCATGCC	0.423000													22	16					0	0	0.003330	0	0
TANC2	26115	broad.mit.edu	37	17	61499168	61499168	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:61499168C>T	ENST00000424789.2	+	25	5829	c.5825C>T	c.(5824-5826)tCc>tTc	p.S1942F	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1952F	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1942							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGCCAGGCCTCCTCCTATCCC	0.592000													46	39					0	0	0.003610	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257055	114257055	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:114257055C>T	ENST00000306507.5	+	1	395	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	74					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.I74I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GAGAGCACATCGAGGGCGGCG	0.701000													57	44					0	0	0.003610	0	0
DSP	1832	broad.mit.edu	37	6	7579988	7579988	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:7579988G>A	ENST00000379802.3	+	23	3906	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K	DSP_ENST00000418664.2_Missense_Mutation_p.E1189K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1189	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGAGAATATGAAAATGAGCT	0.408000													5	20					0	0	0.001168	0	0
GJA8	2703	broad.mit.edu	37	1	147380438	147380438	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:147380438G>A	ENST00000240986.4	+	2	409	c.356G>A	c.(355-357)gGg>gAg	p.G119E	GJA8_ENST00000369235.1_Missense_Mutation_p.G119E	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	119					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CAGCAGGCGGGGACTAACGGC	0.662000													11	29					0	0	0.001368	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682129	69682129	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:69682129C>T	ENST00000265403.7	+	1	419	c.392C>T	c.(391-393)tCa>tTa	p.S131L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.S131L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	131					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATGTAGTTTCAAATAAGAAA	0.328000													16	14					0	0	0.003163	0	0
TJP1	7082	broad.mit.edu	37	15	30026536	30026536	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:30026536G>T	ENST00000346128.6	-	12	1932	c.1458C>A	c.(1456-1458)ttC>ttA	p.F486L	TJP1_ENST00000545208.2_Missense_Mutation_p.F486L|TJP1_ENST00000356107.6_Missense_Mutation_p.F486L|TJP1_ENST00000400011.2_Missense_Mutation_p.F490L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	486	PDZ 3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGTCAAGCAGGAAAAGGACGG	0.363000													12	30					6.72482e-11	1.03233e-10	0.003163	1	0
OR1K1	392392	broad.mit.edu	37	9	125562644	125562644	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:125562644G>A	ENST00000277309.2	+	1	275	c.243G>A	c.(241-243)aaG>aaA	p.K81K		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CTGTGCCCAAGATGTTGGCCA	0.577000													26	21					0	0	0.006320	0	0
NELL1	4745	broad.mit.edu	37	11	20805242	20805242	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:20805242C>T	ENST00000298925.5	+	4	438	c.285C>T	c.(283-285)atC>atT	p.I95I	NELL1_ENST00000325319.5_Silent_p.I67I|NELL1_ENST00000532434.1_Silent_p.I67I|NELL1_ENST00000357134.5_Silent_p.I67I			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	67	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAAGAGAGATCCATGCAGCTC	0.438000													15	12					0	0	0.006122	0	0
COL4A4	1286	broad.mit.edu	37	2	227915730	227915730	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:227915730C>T	ENST00000396625.3	-	33	3320	c.3113G>A	c.(3112-3114)aGa>aAa	p.R1038K	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1038K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1038	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AATGAACCCTCTTAGACCAGT	0.542000													20	72					0	0	0.001882	0	0
DMWD	1762	broad.mit.edu	37	19	46289477	46289477	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:46289477G>A	ENST00000270223.6	-	3	1322	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	DMWD_ENST00000377735.3_Missense_Mutation_p.S426F	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	426					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTAAGTAATGGAGCCAGCCTT	0.706000													12	6					0	0	0.001368	0	0
OXER1	165140	broad.mit.edu	37	2	42990069	42990069	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:42990069C>T	ENST00000378661.2	-	1	1332	c.1251G>A	c.(1249-1251)aaG>aaA	p.K417K		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	417					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGGAGCCTTCCTTTTCCAGAG	0.667000													32	44					0	0	0.005524	0	0
OR10T2	128360	broad.mit.edu	37	1	158368948	158368948	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158368948G>A	ENST00000334438.1	-	1	308	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAAGGAAAAAGAACAGCTGGG	0.507000													6	18					0	0	0.001168	0	0
PLCB2	5330	broad.mit.edu	37	15	40594354	40594354	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:40594354C>T	ENST00000260402.3	-	6	738	c.489G>A	c.(487-489)ggG>ggA	p.G163G	PLCB2_ENST00000456256.2_Silent_p.G163G|PLCB2_ENST00000557821.1_Silent_p.G163G|PLCB2_ENST00000543785.2_Silent_p.G163G	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	163					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCGGAATCTTCCCTTCAGAGT	0.607000													43	74					0	0	0.003610	0	0
OGDHL	55753	broad.mit.edu	37	10	50946054	50946054	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:50946054G>A	ENST00000374103.4	-	19	2541	c.2456C>T	c.(2455-2457)tCc>tTc	p.S819F	OGDHL_ENST00000419399.1_Missense_Mutation_p.S762F|OGDHL_ENST00000432695.1_Missense_Mutation_p.S610F|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	819					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGCCGGTGTGGAGCAGTTGAC	0.627000													70	77					0	0	0.003610	0	0
MEOX1	4222	broad.mit.edu	37	17	41719337	41719337	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:41719337A>T	ENST00000318579.4	-	3	1125	c.706T>A	c.(706-708)Tcc>Acc	p.S236T	MEOX1_ENST00000329168.3_Missense_Mutation_p.L178H|MEOX1_ENST00000393661.2_Missense_Mutation_p.S121T|MEOX1_ENST00000549132.1_Missense_Mutation_p.S149T	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	236						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CCATTGGGGGAGATGGGCTGA	0.567000													59	86					0	0	0.003610	0	0
GABRG1	2565	broad.mit.edu	37	4	46043230	46043230	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:46043230C>T	ENST00000295452.4	-	9	1340	c.1173G>A	c.(1171-1173)atG>atA	p.M391I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	391					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAATATTATTCATTGGAATCA	0.393000													12	30					0	0	0.002450	0	0
GPR12	2835	broad.mit.edu	37	13	27333865	27333865	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:27333865G>A	ENST00000405846.3	-	2	321	c.100C>T	c.(100-102)Cct>Tct	p.P34S	GPR12_ENST00000381436.2_Missense_Mutation_p.P34S	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	34						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TCTACGGCAGGAACCCGGGAG	0.542000													16	22					0	0	0.007413	0	0
OR10H4	126541	broad.mit.edu	37	19	16060709	16060709	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:16060709G>A	ENST00000322107.1	+	1	892	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						AAGGAACAAGGAGCTGAAGAA	0.433000													53	24					0	0	0.003610	0	0
RICTOR	253260	broad.mit.edu	37	5	38975651	38975651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:38975651G>A	ENST00000357387.3	-	10	907	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RICTOR_ENST00000296782.5_Nonsense_Mutation_p.R293*	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	293					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GCCCATGATCGGAATGTTGCT	0.388000													14	28					0	0	0.004990	0	0
ALDOB	229	broad.mit.edu	37	9	104187203	104187203	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:104187203C>T	ENST00000374855.4	-	8	1045	c.921G>A	c.(919-921)caG>caA	p.Q307Q		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	307					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GTGCACTGGCCTGCAGGGCCC	0.542000													20	14					0	0	0.002299	0	0
ASTN1	460	broad.mit.edu	37	1	176833486	176833486	+	Silent	SNP	C	C	T	rs61758730	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:176833486C>T	ENST00000367654.2	-	23	3856	c.3843G>A	c.(3841-3843)agG>agA	p.R1281R	ASTN1_ENST00000361833.2_Silent_p.R1273R|ASTN1_ENST00000367657.3_Intron			O14525	ASTN1_HUMAN	astrotactin 1	1281					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACACGTCTTCCTGAGGTCCC	0.572000													23	72					0	0	0.001882	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625278	56625278	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:56625278C>T	ENST00000266980.4	+	2	513	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R74C	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	74					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCAGGGGCTTCGCCTGGGACA	0.652000													23	38					0	0	0.001882	0	0
USH2A	7399	broad.mit.edu	37	1	216251499	216251499	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:216251499G>A	ENST00000366943.2	-	27	5890	c.5504C>T	c.(5503-5505)tCa>tTa	p.S1835L	USH2A_ENST00000307340.3_Missense_Mutation_p.S1835L|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1835	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAAACTGGTGAATTCACCAC	0.433000										HNSCC(13;0.011)			29	34					0	0	0.007291	0	0
CHMP1A	5119	broad.mit.edu	37	16	89715875	89715875	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:89715875G>A	ENST00000397901.3	-	4	392	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	CHMP1A_ENST00000253475.5_Missense_Mutation_p.P39L|CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000550102.1_Missense_Mutation_p.R46C|CHMP1A_ENST00000547614.1_5'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	46					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GCATACACACGGGCACACTCT	0.592000													7	17					0	0	0.001984	0	0
TPH1	7166	broad.mit.edu	37	11	18048056	18048056	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:18048056G>A	ENST00000250018.2	-	6	1346	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	TPH1_ENST00000341556.2_Missense_Mutation_p.P262S	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	262					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GTATAGAAGGGATCTGAACTG	0.388000													17	9					0	0	0.008871	0	0
HABP2	3026	broad.mit.edu	37	10	115343020	115343020	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:115343020G>A	ENST00000351270.3	+	10	1236	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	HABP2_ENST00000541666.1_3'UTR|HABP2_ENST00000542051.1_Silent_p.L354L	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	380	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		ACCAGGACCTGAAGAAAGAAG	0.453000													13	48					0	0	0.004990	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054389	21054389	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:21054389C>T	ENST00000381545.3	+	15	2072	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	LST3_ENST00000540229.1_Missense_Mutation_p.S618F|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S618F|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S618F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	618					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATATATAATTCCGTATTTTTT	0.338000													29	73					0	0	0.001786	0	0
TEX11	56159	broad.mit.edu	37	X	69826839	69826839	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:69826839C>T	ENST00000395889.2	-	24	2120	c.1965G>A	c.(1963-1965)atG>atA	p.M655I	TEX11_ENST00000374333.2_Missense_Mutation_p.M640I|TEX11_ENST00000344304.3_Missense_Mutation_p.M655I|TEX11_ENST00000374320.2_Missense_Mutation_p.M330I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	655							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ACTCTCTCATCATCACTGGAT	0.308000													11	13					0	0	0.001855	0	0
DHTKD1	55526	broad.mit.edu	37	10	12129677	12129677	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:12129677C>T	ENST00000263035.4	+	4	728	c.666C>T	c.(664-666)ccC>ccT	p.P222P	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	222					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTGGGATGCCCCATAGAGGGA	0.483000													95	258					0	0	0.003610	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771341	150771341	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150771341C>T	ENST00000485713.1	+	17	3791	c.2751C>T	c.(2749-2751)ttC>ttT	p.F917F	SLC4A2_ENST00000310317.5_Silent_p.F835F|SLC4A2_ENST00000413384.2_Silent_p.F917F|SLC4A2_ENST00000392826.2_Silent_p.F908F|SLC4A2_ENST00000461735.1_Silent_p.F903F	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	917	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGCCTTCTTCCTGCGCAAAT	0.647000													61	43					0	0	0.003610	0	0
VAT1L	57687	broad.mit.edu	37	16	77896765	77896765	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:77896765G>A	ENST00000302536.2	+	4	853	c.700G>A	c.(700-702)Gac>Aac	p.D234N	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	234							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CAGAAATGCAGACTACGTGCA	0.443000													26	70					0	0	0.003954	0	0
GRIA2	2891	broad.mit.edu	37	4	158284117	158284117	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:158284117C>T	ENST00000296526.7	+	15	2898	c.2573C>T	c.(2572-2574)tCt>tTt	p.S858F	GRIA2_ENST00000393815.2_Missense_Mutation_p.S811F|GRIA2_ENST00000507898.1_Missense_Mutation_p.S811F|GRIA2_ENST00000264426.9_Missense_Mutation_p.S858F|GRIA2_ENST00000449365.1_Missense_Mutation_p.S811F	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	858					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATTAACCCATCTTCCTCGCAG	0.428000													17	39					0	0	0.006122	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7807556	7807556	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:7807556G>A	ENST00000443676.1	+	4	257	c.139_splice	c.e4-1	p.G47_splice	ZNF705B_ENST00000400120.3_Splice_Site_p.G47_splice			P0CI00	Z705L_HUMAN	zinc finger protein 705B	47	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(2)|lung(2)	4						CACTAACAGGGTACCAGATAA	0.398000													12	56					0	0	0.003163	0	0
RARRES2	5919	broad.mit.edu	37	7	150037222	150037222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150037222C>T	ENST00000466675.1	-	2	1279	c.246G>A	c.(244-246)tgG>tgA	p.W82*	RARRES2_ENST00000223271.3_Nonsense_Mutation_p.W82*|RARRES2_ENST00000482669.1_Nonsense_Mutation_p.W82*			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	82					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGGGTTTCTTCCAGTCCCTCT	0.577000													95	415					0	0	0.003610	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725897	168725897	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:168725897C>T	ENST00000305861.1	+	2	699	c.348C>T	c.(346-348)ttC>ttT	p.F116F	AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Silent_p.F116F	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	116					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCACCCTGTTCCTCCTGGGCA	0.488000													8	30					0	0	0.004482	0	0
SLFN12	55106	broad.mit.edu	37	17	33749255	33749255	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:33749255C>T	ENST00000394562.1	-	4	1316	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SLFN12_ENST00000304905.5_Missense_Mutation_p.E265K|SLFN12_ENST00000452764.3_Missense_Mutation_p.E265K			Q8IYM2	SLN12_HUMAN	schlafen family member 12	265							ATP binding	p.E265K(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGGACTTTTCGATTTCTCTT	0.343000													30	26					0	0	0.002445	0	0
ITGAL	3683	broad.mit.edu	37	16	30507601	30507601	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:30507601C>T	ENST00000356798.6	+	14	1867	c.1687C>T	c.(1687-1689)Ccc>Tcc	p.P563S	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.P480S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	563					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGGGCTTAGTCCCCAGCCAAG	0.627000													38	35					0	0	0.005524	0	0
ATP8B4	79895	broad.mit.edu	37	15	50158637	50158637	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:50158637G>A	ENST00000284509.6	-	26	3213	c.3072C>T	c.(3070-3072)ttC>ttT	p.F1024F	ATP8B4_ENST00000559829.1_Silent_p.F1024F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1024					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCCCCCAGATGAAGACGTGAT	0.378000													16	19					0	0	0.004990	0	0
SPEF2	79925	broad.mit.edu	37	5	35814573	35814573	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:35814573A>T	ENST00000356031.3	+	37	5541	c.5387A>T	c.(5386-5388)aAa>aTa	p.K1796I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.K593I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1796					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGATATTAAAATAATTCTC	0.303000													18	19					0	0	0.007413	0	0
CDH12	1010	broad.mit.edu	37	5	21842281	21842281	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:21842281C>T	ENST00000382254.1	-	8	1889	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	CDH12_ENST00000522262.1_Missense_Mutation_p.R228Q|CDH12_ENST00000504376.2_Missense_Mutation_p.R268Q|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	268	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTGGGGAATCGAGGTGGATT	0.403000										HNSCC(59;0.17)			79	54					0	0	0.003610	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540335	96540335	+	Silent	SNP	C	C	T	rs145272564		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96540335C>T	ENST00000371321.3	+	4	643	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	187					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGAAACGTTTCGATTATAAAG	0.403000													19	81					0	0	0.006122	0	0
HCN1	348980	broad.mit.edu	37	5	45262159	45262159	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:45262159G>A	ENST00000303230.4	-	8	2594	c.2537C>T	c.(2536-2538)tCg>tTg	p.S846L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	846						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGCTCCCGACGACATCTGTCG	0.647000													30	54					0	0	0.002096	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	40					0	0	0.001168	0	0
SPP2	6694	broad.mit.edu	37	2	234959463	234959463	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:234959463G>A	ENST00000168148.3	+	1	121	c.33G>A	c.(31-33)atG>atA	p.M11I	SPP2_ENST00000373368.1_Missense_Mutation_p.M11I	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	11					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TGACGATGATGATGAAGATAT	0.443000													16	56					0	0	0.004990	0	0
ASPG	374569	broad.mit.edu	37	14	104575621	104575621	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:104575621G>A	ENST00000551177.1	+	13	1581	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	ASPG_ENST00000455920.2_Missense_Mutation_p.E497K|ASPG_ENST00000546892.2_Missense_Mutation_p.E497K	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	497					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCCACCCAGGAGCTGGAGGA	0.637000													14	8					0	0	0.006122	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130404819	130404819	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:130404819C>T	ENST00000529410.1	+	17	1855	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S434F|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S434F|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S434F|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S459F|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S459F			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	459					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAAACCAATTCTTTACCTGCT	0.299000													11	10					0	0	0.002450	0	0
PKHD1	5314	broad.mit.edu	37	6	51889493	51889493	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:51889493C>T	ENST00000371117.3	-	32	5390	c.5115G>A	c.(5113-5115)gtG>gtA	p.V1705V	PKHD1_ENST00000340994.4_Silent_p.V1705V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1705	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGAAGGGACCACGCACTGAA	0.527000													15	57					0	0	0.002450	0	0
HDAC10	83933	broad.mit.edu	37	22	50686528	50686528	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:50686528C>T	ENST00000216271.5	-	13	1480	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	HDAC10_ENST00000448072.1_Silent_p.G326G|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Silent_p.G356G	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	376					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGAGGCCTCCCCTCTGGGG	0.662000													31	29					0	0	0.003271	0	0
C5orf34	375444	broad.mit.edu	37	5	43506360	43506360	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:43506360T>A	ENST00000306862.2	-	4	797	c.422A>T	c.(421-423)cAt>cTt	p.H141L	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	141										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TGTAAATTCATGCTGAGATCT	0.378000													23	42					0	0	0.003954	0	0
WBSCR17	64409	broad.mit.edu	37	7	71142229	71142229	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:71142229G>A	ENST00000333538.5	+	9	2072	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	480	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGTCTGCTTGGACCAGGGGCC	0.532000													105	82					0	0	0.003610	0	0
OR2G2	81470	broad.mit.edu	37	1	247752420	247752420	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:247752420C>T	ENST00000320065.1	+	1	759	c.759C>T	c.(757-759)atC>atT	p.I253I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			tggtcaccatcttttatggaa	0.507000													32	34					0	0	0.008361	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003718	119003718	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:119003718G>A	ENST00000298472.5	+	3	501	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	120					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTGTCCCAGTGAAGACAAAGA	0.527000													23	23					0	0	0.001882	0	0
SPTA1	6708	broad.mit.edu	37	1	158609764	158609764	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158609764G>A	ENST00000368148.3	-	34	4951	c.4771C>T	c.(4771-4773)Cat>Tat	p.H1591Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.H1591Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1591					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.H1591Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAAGCAGATGATCCCAATGT	0.488000													13	52					0	0	0.002450	0	0
RNF208	727800	broad.mit.edu	37	9	140115218	140115218	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:140115218G>A	ENST00000392827.1	-	2	615	c.447C>T	c.(445-447)tcC>tcT	p.S149S	RNF208_ENST00000391553.1_Silent_p.S149S			Q9H0X6	RN208_HUMAN	ring finger protein 208	149							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGACATTGTAGGAGTGCCCAC	0.637000													17	8					0	0	0.004990	0	0
PGD	5226	broad.mit.edu	37	1	10479548	10479548	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:10479548C>T	ENST00000538557.1	+	12	1489	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S	PGD_ENST00000270776.8_Silent_p.S428S|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.S406S			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	428					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CTGCCCTCTCCTTCTATGACG	0.622000													33	37					0	0	0.002096	0	0
AIFM2	84883	broad.mit.edu	37	10	71880917	71880917	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:71880917G>A	ENST00000307864.1	-	4	558	c.345C>T	c.(343-345)ttC>ttT	p.F115F	AIFM2_ENST00000373248.1_Silent_p.F115F	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	115					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ACTTGCCCGGGAAGGGCCCAG	0.512000													28	24					0	0	0.001786	0	0
OR10J5	127385	broad.mit.edu	37	1	159505736	159505736	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:159505736C>T	ENST00000334857.2	-	1	106	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGATGCTTTCCAAAGCTAGA	0.368000													10	51					0	0	0.000978	0	0
MCF2L	23263	broad.mit.edu	37	13	113679037	113679037	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:113679037C>T	ENST00000397030.1	+	3	379	c.342C>T	c.(340-342)ttC>ttT	p.F114F	MCF2L_ENST00000434480.2_Silent_p.F87F|MCF2L_ENST00000397024.1_Silent_p.F79F|MCF2L_ENST00000421756.1_Silent_p.F85F|MCF2L_ENST00000375597.4_Silent_p.F79F|MCF2L_ENST00000535094.2_Silent_p.F81F|MCF2L_ENST00000375601.3_Silent_p.F85F|MCF2L_ENST00000375604.2_Silent_p.F138F|MCF2L_ENST00000423482.2_Silent_p.F79F|MCF2L_ENST00000442652.2_Silent_p.F111F|MCF2L_ENST00000375608.3_Silent_p.F111F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	111	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				ACAAGGAGTTCCAGAATGTCA	0.607000													24	20					0	0	0.003954	0	0
CFB	629	broad.mit.edu	37	6	31896685	31896685	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31896685G>A	ENST00000477310.1	+	3	462	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.D145N|C2_ENST00000418949.2_Missense_Mutation_p.D145N|C2_ENST00000442278.2_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Intron			P00751	CFAB_HUMAN	complement factor B	159	Sushi 2.				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						AGCTGTGTGTGATAATGGGGG	0.597000													73	213					0	0	0.003610	0	0
SUCO	51430	broad.mit.edu	37	1	172501615	172501615	+	Translation_Start_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:172501615G>A	ENST00000367723.3	+	1	127	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CCAATCAGATGAGAGGATTCT	0.498000													5	19					0	0	0.001168	0	0
TCF4	6925	broad.mit.edu	37	18	52899845	52899845	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:52899845G>A	ENST00000354452.3	-	17	2155	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	TCF4_ENST00000543082.1_Missense_Mutation_p.S473F|TCF4_ENST00000561992.1_Missense_Mutation_p.S385F|TCF4_ENST00000564228.1_Missense_Mutation_p.S444F|TCF4_ENST00000566286.1_Missense_Mutation_p.S512F|TCF4_ENST00000570287.2_Missense_Mutation_p.S355F|TCF4_ENST00000568673.1_Missense_Mutation_p.S491F|TCF4_ENST00000570177.2_Missense_Mutation_p.S385F|TCF4_ENST00000565018.2_Missense_Mutation_p.S515F|TCF4_ENST00000356073.4_Missense_Mutation_p.S515F|TCF4_ENST00000537578.1_Missense_Mutation_p.S491F|TCF4_ENST00000457482.3_Missense_Mutation_p.S355F|TCF4_ENST00000544241.2_Missense_Mutation_p.S444F|TCF4_ENST00000398339.1_Missense_Mutation_p.S617F|TCF4_ENST00000540999.1_Missense_Mutation_p.S491F|TCF4_ENST00000564999.1_Missense_Mutation_p.S515F|TCF4_ENST00000537856.3_Missense_Mutation_p.S385F|TCF4_ENST00000566279.1_Missense_Mutation_p.S455F|TCF4_ENST00000567880.1_Missense_Mutation_p.S455F|TCF4_ENST00000561831.3_Missense_Mutation_p.S355F|TCF4_ENST00000564403.2_Missense_Mutation_p.S521F|TCF4_ENST00000568740.1_Missense_Mutation_p.S490F	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	515					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTCGTCATCGGATTTGATCTC	0.468000													14	35					0	0	0.003163	0	0
IL21R	50615	broad.mit.edu	37	16	27460566	27460566	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:27460566C>T	ENST00000337929.3	+	9	2052	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	IL21R_ENST00000395755.1_Missense_Mutation_p.P527S|IL21R_ENST00000564089.1_Missense_Mutation_p.P527S|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.P527S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	527					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGTGGTCATTCCTCCGCCACT	0.647000			T	BCL6	NHL								18	14					0	0	0.008871	0	0
NPSR1	387129	broad.mit.edu	37	7	34889261	34889261	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:34889261C>T	ENST00000360581.1	+	9	1238	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381539.3_3'UTR|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381542.1_Silent_p.F304F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	370						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGCCAGAATTCATCTAGACCC	0.532000													45	21					0	0	0.002852	0	0
LIPI	149998	broad.mit.edu	37	21	15558358	15558358	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:15558358G>A	ENST00000344577.2	-	3	553	c.528C>T	c.(526-528)ttC>ttT	p.F176F	LIPI_ENST00000536861.1_Silent_p.F155F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	155					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCACACCTATGAAATGAAAAT	0.328000													45	62					0	0	0.003610	0	0
KRT16	3868	broad.mit.edu	37	17	39768825	39768825	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:39768825G>A	ENST00000301653.4	-	1	180	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	39	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GGCACGGCAGGACCCTCCGGC	0.721000													13	3					0	0	0.001855	0	0
FBXO24	26261	broad.mit.edu	37	7	100187820	100187820	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100187820C>T	ENST00000241071.6	+	3	484	c.162C>T	c.(160-162)ctC>ctT	p.L54L	FBXO24_ENST00000360609.2_Silent_p.L54L|FBXO24_ENST00000427939.2_Silent_p.L92L|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.L54L|FBXO24_ENST00000468962.1_Silent_p.L42L	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	54	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTCATTCCTCCCAGTCAGAG	0.582000													7	9					0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454288	110454288	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:110454288G>A	ENST00000378402.5	+	35	4361	c.4257G>A	c.(4255-4257)ggG>ggA	p.G1419G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1419	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTCTGTGGGGGACACAGTGG	0.413000										HNSCC(38;0.096)			28	18					0	0	0.002836	0	0
CNGB1	1258	broad.mit.edu	37	16	57945663	57945663	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:57945663C>T	ENST00000564448.1	-	25	2528	c.2468G>A	c.(2467-2469)gGa>gAa	p.G823E	CNGB1_ENST00000251102.8_Missense_Mutation_p.G829E			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	829					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCACCTGTTTCCCACGCCATC	0.542000													20	21					0	0	0.001882	0	0
CACNA1S	779	broad.mit.edu	37	1	201046074	201046074	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:201046074G>A	ENST00000362061.3	-	12	2027	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P601S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	601					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)	agggCTTGGGGAAAGTTGTCA	0.537000													26	58					0	0	0.007291	0	0
BRD1	23774	broad.mit.edu	37	22	50181140	50181140	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:50181140G>A	ENST00000216267.8	-	7	2848	c.2362C>T	c.(2362-2364)Ctt>Ttt	p.L788F	BRD1_ENST00000342989.5_Missense_Mutation_p.L514F|BRD1_ENST00000542442.1_Missense_Mutation_p.L476F|BRD1_ENST00000404034.1_Missense_Mutation_p.L788F|BRD1_ENST00000457780.2_Silent_p.S891S|BRD1_ENST00000404760.1_Missense_Mutation_p.L919F	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	788					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AACCTCGGAAGGACTACAGAC	0.552000													9	16					0	0	0.006214	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558279	140558279	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:140558279C>T	ENST00000239444.2	+	1	909	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCTCTCCGCCCAGATCTGG	0.522000													26	71					0	0	0.004656	0	0
SDPR	8436	broad.mit.edu	37	2	192701120	192701120	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:192701120C>T	ENST00000304141.4	-	2	1136	c.807G>A	c.(805-807)gaG>gaA	p.E269E		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	269						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCTTAATCTTCTCTCTCCTCT	0.443000													94	116					0	0	0.003610	0	0
OR8K1	390157	broad.mit.edu	37	11	56114057	56114057	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:56114057C>T	ENST00000279783.2	+	1	637	c.543C>T	c.(541-543)agC>agT	p.S181S		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACATAATCAGCTATTTTTACT	0.358000										HNSCC(65;0.19)			31	21					0	0	0.002445	0	0
KATNAL2	83473	broad.mit.edu	37	18	44584636	44584636	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:44584636C>T	ENST00000245121.5	+	4	341	c.147C>T	c.(145-147)ccC>ccT	p.P49P	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Silent_p.P121P	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	121	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAAATCTTCCCAAGATCAATC	0.453000													9	26					0	0	0.004482	0	0
FUT9	10690	broad.mit.edu	37	6	96651183	96651183	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:96651183A>T	ENST00000302103.5	+	3	478	c.152A>T	c.(151-153)aAa>aTa	p.K51I		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	51					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.K51fs(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGAAAATGAAAAACTTCTTT	0.428000													30	13					0	0	0.008361	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668504	176668504	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:176668504C>T	ENST00000367662.3	+	8	4179	c.3015C>T	c.(3013-3015)atC>atT	p.I1005I		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1005					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTGTGACATCCCACTCACCA	0.512000													48	48					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339111	25339111	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:25339111C>T	ENST00000546682.1	+	0	1100				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						GCTGGTGGATCCCTCAGGATG	0.478000													3	6					0	0	0.004672	0	0
PTPRH	5794	broad.mit.edu	37	19	55693237	55693237	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55693237C>T	ENST00000376350.3	-	20	3255	c.3233G>A	c.(3232-3234)cGg>cAg	p.R1078Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.R900Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1078	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1078Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTGGAGGAACCGCAGGATGCA	0.627000													26	20					0	0	0.005443	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224405	172224405	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:172224405G>A	ENST00000241261.2	-	5	845	c.723C>T	c.(721-723)tcC>tcT	p.S241S	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	241					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTTGATAGATGGAATAGAGTC	0.333000													18	44					0	0	0.001523	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761398	150761398	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150761398C>T	ENST00000485713.1	+	3	1201	c.161C>T	c.(160-162)gCc>gTc	p.A54V	SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000413384.2_Missense_Mutation_p.A54V|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A45V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A40V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	54	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTACAGGAGGCCGGGTCTCGT	0.662000													6	32					0	0	0.001984	0	0
NRAP	4892	broad.mit.edu	37	10	115410288	115410288	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:115410288T>C	ENST00000369358.4	-	8	936	c.692A>G	c.(691-693)gAc>gGc	p.D231G	NRAP_ENST00000360478.3_Missense_Mutation_p.D231G|NRAP_ENST00000359988.3_Missense_Mutation_p.D231G|NRAP_ENST00000369360.3_Missense_Mutation_p.D231G			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	231						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTGTTCATAGTCCTCTGTGTA	0.443000													26	19					0	0	0.005443	0	0
KCNF1	3754	broad.mit.edu	37	2	11053003	11053003	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:11053003G>A	ENST00000295082.1	+	1	941	c.451G>A	c.(451-453)Gac>Aac	p.D151N		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	151						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CATCCTGGACGACCTGGGCGT	0.682000													7	27					0	0	0.003080	0	0
SORL1	6653	broad.mit.edu	37	11	121428058	121428058	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:121428058C>T	ENST00000260197.7	+	19	2736	c.2607C>T	c.(2605-2607)atC>atT	p.I869I		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	869					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACTCACAATCGTCAATTCCT	0.522000													39	21					0	0	0.003610	0	0
DSG1	1828	broad.mit.edu	37	18	28934380	28934380	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:28934380G>A	ENST00000257192.4	+	15	2433	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E100K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	741					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTTCATTGGAGAAGACCTGGA	0.458000													22	65					0	0	0.003954	0	0
ABCA4	24	broad.mit.edu	37	1	94520859	94520859	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:94520859G>A	ENST00000370225.3	-	16	2481	c.2395C>T	c.(2395-2397)Ccg>Tcg	p.P799S	ABCA4_ENST00000535735.1_Missense_Mutation_p.P725S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	799					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AATGCCACCGGAGACAGTAAG	0.567000													14	20					0	0	0.003163	0	0
CLCNKB	1188	broad.mit.edu	37	1	16374527	16374527	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:16374527C>T	ENST00000375679.4	+	5	597	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCCTCTTCCTCGGGAAAG	0.622000													8	23					0	0	0.003080	0	0
TCF4	6925	broad.mit.edu	37	18	53070731	53070731	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:53070731G>A	ENST00000354452.3	-	6	934	c.323C>T	c.(322-324)tCa>tTa	p.S108L	TCF4_ENST00000543082.1_Missense_Mutation_p.S66L|TCF4_ENST00000561992.1_5'UTR|TCF4_ENST00000564228.1_Missense_Mutation_p.S38L|TCF4_ENST00000566286.1_Missense_Mutation_p.S106L|TCF4_ENST00000568673.1_Missense_Mutation_p.S84L|TCF4_ENST00000565018.2_Missense_Mutation_p.S108L|TCF4_ENST00000356073.4_Missense_Mutation_p.S108L|TCF4_ENST00000537578.1_Missense_Mutation_p.S84L|TCF4_ENST00000544241.2_Missense_Mutation_p.S38L|TCF4_ENST00000398339.1_Missense_Mutation_p.S210L|TCF4_ENST00000540999.1_Missense_Mutation_p.S84L|TCF4_ENST00000564999.1_Missense_Mutation_p.S108L|TCF4_ENST00000566279.1_Missense_Mutation_p.S108L|TCF4_ENST00000567880.1_Missense_Mutation_p.S108L|TCF4_ENST00000564403.2_Missense_Mutation_p.S108L|TCF4_ENST00000568740.1_Missense_Mutation_p.S84L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	108					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGATGAGTATGAGCCCCTTTC	0.408000													21	60					0	0	0.001882	0	0
IGLV3-22	28795	broad.mit.edu	37	22	23047164	23047164	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:23047164G>A	ENST00000390307.2	+	0	266																											GGTGATATACGAAGATAGTGA	0.557000													26	44					0	0	0.007291	0	0
MYH11	4629	broad.mit.edu	37	16	15835746	15835746	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:15835746C>T	ENST00000338282.6	-	21	2629	c.2523G>A	c.(2521-2523)gtG>gtA	p.V841V	MYH11_ENST00000300036.5_Silent_p.V841V|MYH11_ENST00000576790.1_Silent_p.V841V|MYH11_ENST00000452625.2_Silent_p.V848V|MYH11_ENST00000396324.3_Silent_p.V848V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	841					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCAGTGGCTTCACCTGCACAC	0.522000			T	CBFB	AML								19	17					0	0	0.007413	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628589	51628589	+	Missense_Mutation	SNP	C	C	T	rs147625837		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:51628589C>T	ENST00000440804.3	+	1	425	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R120C	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	120	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATACTTCTTTCGTATGGAGAA	0.498000													26	10					0	0	0.003330	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539014	27539014	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:27539014G>A	ENST00000574842.1	+	0	283				LRRC37A6P_ENST00000284414.4_RNA																							GACTCTGGAGGAAGAGGTGGG	0.527000													14	46					0	0	0.002450	0	0
AQP9	366	broad.mit.edu	37	15	58467154	58467154	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:58467154C>T	ENST00000219919.4	+	4	784	c.414C>T	c.(412-414)atC>atT	p.I138I	AQP9_ENST00000558772.1_Silent_p.I73I|AQP9_ENST00000536493.1_Silent_p.I138I|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	138					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AACTGCTGATCGTGGGAGAAA	0.458000													9	40					0	0	0.004482	0	0
KIAA1109	84162	broad.mit.edu	37	4	123140648	123140648	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:123140648C>T	ENST00000264501.4	+	21	2774	c.2401C>T	c.(2401-2403)Cat>Tat	p.H801Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H801Y|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H801Y			Q2LD37	K1109_HUMAN	KIAA1109	801					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAAGTCAATTCATCCACTTGC	0.413000													45	58					0	0	0.003610	0	0
EPB41	2035	broad.mit.edu	37	1	29319891	29319891	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:29319891G>A	ENST00000343067.4	+	3	645	c.518G>A	c.(517-519)gGa>gAa	p.G173E	EPB41_ENST00000347529.3_Missense_Mutation_p.G173E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000373797.1_Missense_Mutation_p.G173E|EPB41_ENST00000356093.2_Missense_Mutation_p.G173E|EPB41_ENST00000398863.2_Missense_Mutation_p.G173E|EPB41_ENST00000373798.1_Missense_Mutation_p.G173E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	173					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATTAAGGAAGGAGAAGGACTT	0.368000													79	91					0	0	0.003610	0	0
HOXA1	3198	broad.mit.edu	37	7	27135272	27135272	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:27135272C>T	ENST00000343060.4	-	1	321	c.260G>A	c.(259-261)gGg>gAg	p.G87E	HOXA1_ENST00000355633.5_Missense_Mutation_p.G87E|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	87						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAGGACACCCCCAGGTTCCC	0.602000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	32	27					0	0	0.002836	0	0
ZNF98	148198	broad.mit.edu	37	19	22586228	22586228	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22586228C>A	ENST00000357774.5	-	2	238	c.117G>T	c.(115-117)agG>agT	p.R39S	ZNF98_ENST00000601553.1_Missense_Mutation_p.R39S	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACATCACATTCCTATATAAAT	0.383000													51	15					7.47603e-22	1.15238e-21	0.003610	1	0
ESPNP	284729	broad.mit.edu	37	1	17023188	17023188	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:17023188G>A	ENST00000492551.1	-	0	1675					NR_026567.1																						CGGCCAATCGGGCTGCAGGGA	0.692000													4	17					0	0	0.000602	0	0
SMTN	6525	broad.mit.edu	37	22	31489832	31489832	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:31489832C>T	ENST00000404574.1	+	1	489	c.399C>T	c.(397-399)tcC>tcT	p.S133S	SMTN_ENST00000358743.1_Intron|SMTN_ENST00000347557.2_Intron|SMTN_ENST00000333137.7_Intron			P53814	SMTN_HUMAN	smoothelin	536					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCGCCGCTCCTCCACCGGCA	0.662000													5	10					0	0	0.001984	0	0
FAM46C	54855	broad.mit.edu	37	1	118165518	118165518	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:118165518G>A	ENST00000369448.3	+	2	275	c.28G>A	c.(28-30)Gat>Aat	p.D10N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	10										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CTGTACCAGGGATTGCATGTC	0.527000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			17	15					0	0	0.001523	0	0
OR10G2	26534	broad.mit.edu	37	14	22102334	22102334	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:22102334G>A	ENST00000542433.1	-	1	762	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GTTGGCATAGGAGAGCAGAAT	0.547000													22	3					0	0	0.001523	0	0
GPR182	11318	broad.mit.edu	37	12	57389900	57389900	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:57389900G>A	ENST00000300098.1	+	2	1126	c.907G>A	c.(907-909)Gat>Aat	p.D303N		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	303						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTTCTATGATGTCATTGA	0.552000													132	78					0	0	0.003610	0	0
UNC5C	8633	broad.mit.edu	37	4	96091445	96091445	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:96091445C>T	ENST00000453304.1	-	15	2838	c.2490G>A	c.(2488-2490)gcG>gcA	p.A830A		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	830					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGATGGTGTTCGCAGGATCCA	0.552000													49	115					0	0	0.003610	0	0
PDZRN3	23024	broad.mit.edu	37	3	73453318	73453318	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:73453318G>A	ENST00000263666.4	-	4	1261	c.1147C>T	c.(1147-1149)Ccc>Tcc	p.P383S	PDZRN3_ENST00000466780.1_Missense_Mutation_p.P40S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P100S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P105S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P40S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	383							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AAGAGATAGGGATCCAGCACG	0.463000													19	9					0	0	0.002780	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390757	52390757	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:52390757G>A	ENST00000443374.1	+	0	1450																											TCAAAATGCTGGCCAGGGGTT	0.478000													6	7					0	0	0.001168	0	0
EXTL3	2137	broad.mit.edu	37	8	28574278	28574278	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:28574278C>T	ENST00000220562.4	+	3	1604	c.702C>T	c.(700-702)atC>atT	p.I234I	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	234						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.I234I(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ATGCAGACATCGCCTGCCTTT	0.542000													8	54					0	0	0.004482	0	0
GRIA2	2891	broad.mit.edu	37	4	158281184	158281184	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:158281184C>A	ENST00000296526.7	+	13	2505	c.2180C>A	c.(2179-2181)tCc>tAc	p.S727Y	GRIA2_ENST00000393815.2_Missense_Mutation_p.S680Y|GRIA2_ENST00000507898.1_Missense_Mutation_p.S680Y|GRIA2_ENST00000264426.9_Missense_Mutation_p.S727Y|GRIA2_ENST00000449365.1_Missense_Mutation_p.S680Y	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	727					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTGTTGGAGTCCACGATGAAC	0.517000													19	37					7.45023e-12	1.14487e-11	0.001523	1	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31711783	31711783	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31711783C>T	ENST00000493662.2	+	6	574	c.518C>T	c.(517-519)cCc>cTc	p.P173L	MSH5_ENST00000375742.3_Missense_Mutation_p.P173L|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000534153.4_Missense_Mutation_p.P173L|MSH5_ENST00000375703.3_Missense_Mutation_p.P173L|MSH5_ENST00000375740.3_Missense_Mutation_p.P173L|MSH5_ENST00000375750.3_Missense_Mutation_p.P173L|MSH5_ENST00000375755.3_Missense_Mutation_p.P173L																							TCCATTATTCCCTTTGACTGC	0.532000													155	399					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38888655	38888655	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:38888655C>T	ENST00000450244.1	-	26	5104	c.4906G>A	c.(4906-4908)Gaa>Aaa	p.E1636K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1598K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1636K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1636					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGTTGCTTCTGGGTCAAAC	0.393000													43	20					0	0	0.008740	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996194	143996194	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:143996194C>T	ENST00000323110.2	-	4	728	c.726G>A	c.(724-726)agG>agA	p.R242R		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	242					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GAGACAGGCTCCTGGGCATGA	0.607000									Familial Hyperaldosteronism type I				6	17					0	0	0.001168	0	0
BIRC6	57448	broad.mit.edu	37	2	32710717	32710717	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:32710717T>A	ENST00000421745.2	+	40	7838	c.7704T>A	c.(7702-7704)gaT>gaA	p.D2568E		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2568					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGCCCTGGATGCTCGCCTAG	0.378000													5	29					0	0	0.001984	0	0
RFPL2	10739	broad.mit.edu	37	22	32590399	32590399	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:32590399G>A	ENST00000400237.1	-	3	1133	c.198C>T	c.(196-198)gcC>gcT	p.A66A	RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000400236.3_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	66							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTGGGGAAGGGGCACACGAGG	0.547000													7	14					0	0	0.003080	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077447	32077447	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:32077447C>T	ENST00000354689.6	+	0	62				RP11-1166P10.6_ENST00000566806.1_RNA																							CTGAGACTCTCCTGTGCAGCC	0.572000													46	154					0	0	0.003610	0	0
SOGA2	23255	broad.mit.edu	37	18	8784642	8784642	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:8784642T>A	ENST00000359865.3	+	6	1674	c.1532T>A	c.(1531-1533)cTg>cAg	p.L511Q	SOGA2_ENST00000306329.11_Missense_Mutation_p.L871Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.L511Q|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.L511Q	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	862																	GAGCCCCAGCTGCTGGGGACC	0.652000													13	21					0	0	0.001855	0	0
GML	2765	broad.mit.edu	37	8	143927899	143927899	+	Silent	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:143927899A>G	ENST00000220940.1	+	4	360	c.270A>G	c.(268-270)ccA>ccG	p.P90P		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	90	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGAAGCCCCAGGAAAAATCT	0.378000													19	19					0	0	0.006122	0	0
NPHP3	27031	broad.mit.edu	37	3	132415580	132415580	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:132415580G>A	ENST00000337331.5	-	15	2252	c.2166C>T	c.(2164-2166)atC>atT	p.I722I	NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	722					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCACCGCGCGATCATTTTGC	0.448000													13	76					0	0	0.004007	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955842	18955842	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:18955842G>A	ENST00000302797.3	-	1	714	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	164					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCACTGAACAGGAAGCCACAT	0.562000													12	47					0	0	0.001368	0	0
THEMIS	387357	broad.mit.edu	37	6	128150684	128150684	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:128150684G>A	ENST00000368250.1	-	4	907	c.409C>T	c.(409-411)Cct>Tct	p.P137S	THEMIS_ENST00000368248.2_Missense_Mutation_p.P216S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P216S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P181S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	216	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AAGTCTTTAGGAAATGGATTC	0.363000													22	20					0	0	0.002780	0	0
TP63	8626	broad.mit.edu	37	3	189526122	189526122	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:189526122C>T	ENST00000264731.3	+	4	475	c.386C>T	c.(385-387)tCg>tTg	p.S129L	TP63_ENST00000354600.5_Missense_Mutation_p.S35L|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.S129L|TP63_ENST00000440651.2_Missense_Mutation_p.S129L|TP63_ENST00000456148.1_Missense_Mutation_p.S35L|TP63_ENST00000392460.3_Missense_Mutation_p.S129L|TP63_ENST00000418709.2_Missense_Mutation_p.S129L|TP63_ENST00000392463.2_Missense_Mutation_p.S35L|TP63_ENST00000382063.4_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.S35L|TP63_ENST00000392461.3_Missense_Mutation_p.S35L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	129			S -> L.		anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AACGGCTCCTCGTCCACCAGT	0.587000										HNSCC(45;0.13)			25	23					0	0	0.005443	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:19455440C>T	ENST00000396229.2	+	4	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_ENST00000381414.4_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C|TMC5_ENST00000541464.1_Missense_Mutation_p.R276C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000													38	31					0	0	0.005524	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826155	22826155	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:22826155C>T	ENST00000261374.3	+	1	658	c.224C>T	c.(223-225)cCc>cTc	p.P75L		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	75						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCCTGTGATCCCTCCGGGCCG	0.766000													3	4					0	0	0.004672	0	0
HIPK2	28996	broad.mit.edu	37	7	139268718	139268718	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:139268718G>A	ENST00000406875.3	-	13	2904	c.2810C>T	c.(2809-2811)tCc>tTc	p.S937F	HIPK2_ENST00000428878.2_Missense_Mutation_p.S910F|HIPK2_ENST00000342645.6_Missense_Mutation_p.S837F	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	937	Interaction with AXIN1 (By similarity).|Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGCTGCACGGAGTAGGGGCT	0.562000													24	17					0	0	0.003954	0	0
ATAD2	29028	broad.mit.edu	37	8	124384064	124384064	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:124384064G>A	ENST00000287394.5	-	4	489	c.382C>T	c.(382-384)Cca>Tca	p.P128S	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGAGTAACTGGAATCACTTTG	0.308000													12	17					0	0	0.001368	0	0
COL27A1	85301	broad.mit.edu	37	9	117005812	117005812	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:117005812C>T	ENST00000356083.3	+	23	3297	c.2906C>T	c.(2905-2907)cCt>cTt	p.P969L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	969	Collagen-like 6.|Pro-rich.|Triple-helical region.				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						AAGGGGTTTCCTGGGAGGCCC	0.627000													19	2					0	0	0.004656	0	0
HTR7	3363	broad.mit.edu	37	10	92509065	92509065	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:92509065G>A	ENST00000371721.3	-	2	1068	c.826C>T	c.(826-828)Cct>Tct	p.P276S	HTR7_ENST00000336152.3_Missense_Mutation_p.P276S|HTR7_ENST00000277874.6_Missense_Mutation_p.P276S|HTR7_ENST00000371719.2_Missense_Mutation_p.P276S			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	276					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GGGAAGCCAGGAAACTTGTGT	0.512000													20	19					0	0	0.008871	0	0
ZNF645	158506	broad.mit.edu	37	X	22291889	22291889	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:22291889C>T	ENST00000323684.1	+	1	825	c.781C>T	c.(781-783)Cct>Tct	p.P261S		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	261	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CGACTATTATCCTGAGTGTCA	0.418000													65	34					0	0	0.003610	0	0
SLC12A1	6557	broad.mit.edu	37	15	48541797	48541797	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:48541797C>T	ENST00000396577.3	+	14	1925	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	SLC12A1_ENST00000380993.3_Silent_p.I570I|SLC12A1_ENST00000558405.1_Silent_p.I570I	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	570					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTGCTCCCATCATCTCCAACT	0.428000													14	39					0	0	0.004990	0	0
ITSN2	50618	broad.mit.edu	37	2	24535101	24535101	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:24535101G>A	ENST00000355123.4	-	5	775	c.332C>T	c.(331-333)cCa>cTa	p.P111L	ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000406921.3_Missense_Mutation_p.P111L|ITSN2_ENST00000361999.3_Missense_Mutation_p.P111L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	111					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAATTAATGGAGAAAACAT	0.363000													13	18					0	0	0.001855	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113321	117113321	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:117113321C>T	ENST00000310357.3	-	6	2786	c.2765G>A	c.(2764-2766)aGa>aAa	p.R922K	GPRC6A_ENST00000530250.1_Missense_Mutation_p.R747K|GPRC6A_ENST00000368549.3_Missense_Mutation_p.R851K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	922					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACTTGACATTCTTTTTCGAGG	0.383000													48	29					0	0	0.003610	0	0
ARC	23237	broad.mit.edu	37	8	143694973	143694973	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:143694973G>A	ENST00000356613.2	-	1	1860	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	220					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGTGGCTCAGGAACTCTCGAG	0.662000													5	22					0	0	0.001168	0	0
KCNH5	27133	broad.mit.edu	37	14	63416778	63416778	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:63416778C>T	ENST00000394964.2	-	7	1606	c.1268G>A	c.(1267-1269)tGa>tAa	p.*423*	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000322893.7_Intron			Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	0					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)		AGTTCGTTTTCATCCTATCTG	0.274000													3	2					0	0	0.004672	0	0
OR2G6	391211	broad.mit.edu	37	1	248685105	248685105	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248685105C>T	ENST00000343414.4	+	1	190	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S53Y(2)|p.S53*(1)		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)			TGTCTGGACTCCAGACTCCAC	0.483000													17	21					0	0	0.004007	0	0
TLN2	83660	broad.mit.edu	37	15	63127944	63127944	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:63127944C>T	ENST00000561311.1	+	55	7367	c.7137C>T	c.(7135-7137)tcC>tcT	p.S2379S	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Silent_p.S2379S			Q9Y4G6	TLN2_HUMAN	talin 2	2379	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGGTGGGCTCCATCCCTGCCA	0.592000													21	90					0	0	0.004656	0	0
TRIM42	287015	broad.mit.edu	37	3	140397172	140397172	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:140397172A>G	ENST00000286349.3	+	1	292	c.101A>G	c.(100-102)gAg>gGg	p.E34G		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	34	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCACCTCAGAGCGGAACTGC	0.522000													75	68					0	0	0.003610	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6349705	6349705	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:6349705C>T	ENST00000335585.5	-	6	681	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PPP2R2C_ENST00000515571.1_Missense_Mutation_p.D203N|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.D213N|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.D213N|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.D220N	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	220					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCGTAAGGTCCTCCATGTTG	0.612000													31	36					0	0	0.006230	0	0
ZFP64	55734	broad.mit.edu	37	20	50769921	50769921	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:50769921G>A	ENST00000216923.4	-	6	1159	c.810C>T	c.(808-810)atC>atT	p.I270I	ZFP64_ENST00000371515.4_Silent_p.I268I|ZFP64_ENST00000346617.4_Silent_p.I216I|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTCCGAGCTGATTTTGAACT	0.552000													20	26					0	0	0.002299	0	0
SETBP1	26040	broad.mit.edu	37	18	42531100	42531100	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:42531100G>A	ENST00000282030.5	+	4	2091	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	599						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCTCACAGTCGAGACGATTCA	0.517000									Schinzel-Giedion syndrome				9	30					0	0	0.004482	0	0
SCLT1	132320	broad.mit.edu	37	4	129867244	129867244	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:129867244A>T	ENST00000281142.5	-	16	1860	c.1357T>A	c.(1357-1359)Ttc>Atc	p.F453I	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	453						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GAAACCAGGAATCTTTGGTGC	0.353000													11	22					0	0	0.000978	0	0
CSMD1	64478	broad.mit.edu	37	8	3216730	3216730	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:3216730A>C	ENST00000602557.1	-	22	3806	c.3251T>G	c.(3250-3252)cTt>cGt	p.L1084R	CSMD1_ENST00000537824.1_Missense_Mutation_p.L1083R|CSMD1_ENST00000602723.1_Missense_Mutation_p.L1084R|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1083R|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1084R|CSMD1_ENST00000520002.1_Missense_Mutation_p.L1084R|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1083R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1084	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGCAGGTAAGCTTGGTGGC	0.557000													28	34					0	0	0.002836	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567294	142567294	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:142567294G>A	ENST00000295992.3	-	3	519	c.213C>T	c.(211-213)gtC>gtT	p.V71V	PCOLCE2_ENST00000485766.1_Silent_p.V71V	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	71	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AATTGAGAACGACTACTTTTC	0.453000													14	33					0	0	0.004007	0	0
OR2T33	391195	broad.mit.edu	37	1	248436395	248436395	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248436395G>A	ENST00000318021.2	-	1	743	c.722C>T	c.(721-723)tCa>tTa	p.S241L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			AGCCACATGTGAAGAGCAGGT	0.517000													5	36					0	0	0.004482	0	0
CDH10	1008	broad.mit.edu	37	5	24509751	24509751	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:24509751G>A	ENST00000264463.4	-	7	1687	c.1180C>T	c.(1180-1182)Cat>Tat	p.H394Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	394	Cadherin 4.				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)		ATATCTTCATGAACTTCAAAC	0.383000										HNSCC(23;0.051)			15	20					0	0	0.003163	0	0
ATP8A2	51761	broad.mit.edu	37	13	26163833	26163833	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:26163833T>G	ENST00000381655.2	+	24	2349	c.2207T>G	c.(2206-2208)tTg>tGg	p.L736W	ATP8A2_ENST00000255283.8_Missense_Mutation_p.L696W|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	696					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GAGGACTCTTTGGATGTAAGT	0.368000													34	25					0	0	0.002836	0	0
EPS8L2	64787	broad.mit.edu	37	11	723275	723275	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:723275C>T	ENST00000533256.1	+	16	1751	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	EPS8L2_ENST00000530636.1_Missense_Mutation_p.S459F|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S459F|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S475F|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	459						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATAAGAAACTCCCAGAAGCAC	0.632000											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	9					0	0	0.000978	0	0
SYT1	6857	broad.mit.edu	37	12	79689860	79689860	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:79689860G>A	ENST00000261205.4	+	7	1143	c.486G>A	c.(484-486)ggG>ggA	p.G162G	SYT1_ENST00000457153.2_Silent_p.G159G|SYT1_ENST00000393240.3_Silent_p.G162G|SYT1_ENST00000552744.1_Silent_p.G162G	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	162	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGCTGGTAGGGATCATTCAGG	0.423000													11	34					0	0	0.001855	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777621	18777621	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:18777621C>T	ENST00000380548.4	+	19	3733	c.3394C>T	c.(3394-3396)Ctc>Ttc	p.L1132F		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1132						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCAGTGACTCTCTCGCCTCA	0.672000													3	4					0	0	0.000602	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120298859	120298859	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:120298859C>T	ENST00000397843.2	+	8	654	c.488C>T	c.(487-489)cCg>cTg	p.P163L	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P60L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P144L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	163					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAAGTAGAGCCGTCAGTCATT	0.542000			T	MLL	AML								64	35					0	0	0.003610	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278365	130278365	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:130278365G>A	ENST00000257359.6	-	8	2799	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	698	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCACTTGGTGGGGGTGAGGGA	0.567000													35	20					0	0	0.006230	0	0
FOXD4	2298	broad.mit.edu	37	9	118092	118092	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:118092G>A	ENST00000382500.2	-	1	325	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	10					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGTGTGGAGCGAAGGCGCTCA	0.652000													36	22					0	0	0.003610	0	0
CFB	629	broad.mit.edu	37	6	31914153	31914153	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31914153T>G	ENST00000456570.1	+	14	1629	c.1574T>G	c.(1573-1575)gTg>gGg	p.V525G	CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.V525G|CFB_ENST00000425368.2_Missense_Mutation_p.V23G			P00751	CFAB_HUMAN	complement factor B	23	Peptidase S1.				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						TCTTCAGGTGTGACCACCACT	0.592000													64	269					0	0	0.003610	0	0
GFI1B	8328	broad.mit.edu	37	9	135862155	135862155	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:135862155C>T	ENST00000339463.3	+	6	909	c.90C>T	c.(88-90)gcC>gcT	p.A30A	GFI1B_ENST00000534944.1_Silent_p.A30A|GFI1B_ENST00000372122.1_Silent_p.A30A|GFI1B_ENST00000450530.1_Silent_p.A30A|GFI1B_ENST00000372123.1_Silent_p.A30A|GFI1B_ENST00000372124.1_Silent_p.A30A			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	30					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGCCTCCTGCCCTTACCCCGG	0.647000													9	3					0	0	0.006214	0	0
MROH2B	133558	broad.mit.edu	37	5	41038922	41038922	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:41038922G>A	ENST00000399564.4	-	21	2580	c.2130C>T	c.(2128-2130)ctC>ctT	p.L710L	MROH2B_ENST00000506092.2_Silent_p.L265L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGGGAGCATGGAGGGCCACTG	0.473000													17	22					0	0	0.006122	0	0
TLL1	7092	broad.mit.edu	37	4	166795119	166795119	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:166795119C>T	ENST00000061240.2	+	1	710	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TLL1_ENST00000507499.1_Silent_p.F21F|TLL1_ENST00000513213.1_Silent_p.F21F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	21					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGATTGTTTTCTACGGGGAGC	0.552000													72	121					0	0	0.003610	0	0
FUT3	2525	broad.mit.edu	37	19	5843768	5843768	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:5843768G>A	ENST00000303225.6	-	3	1717	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	FUT3_ENST00000458379.2_Silent_p.T361T|FUT3_ENST00000589918.1_Silent_p.T361T|FUT3_ENST00000589620.1_Silent_p.T361T	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	361					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CGGCCTCTCAGGTGAACCAAG	0.622000													28	15					0	0	0.008361	0	0
SIK1	150094	broad.mit.edu	37	21	44838314	44838314	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:44838314G>A	ENST00000270162.6	-	12	1702	c.1570C>T	c.(1570-1572)Ccg>Tcg	p.P524S		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	524					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TGAGTGGCCGGGGTGCCACTG	0.701000													3	8					0	0	0.004672	0	0
MYH15	22989	broad.mit.edu	37	3	108229345	108229345	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:108229345G>A	ENST00000273353.3	-	2	149	c.93C>T	c.(91-93)gcC>gcT	p.A31A		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	31	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A31A(1)|p.A31E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTGAGGAAGGCTGCGGCTT	0.458000													15	39					0	0	0.002450	0	0
ACOT7	11332	broad.mit.edu	37	1	6354942	6354942	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:6354942G>A	ENST00000361521.4	-	7	1802	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	ACOT7_ENST00000377842.3_Missense_Mutation_p.H230Y|ACOT7_ENST00000545482.1_Missense_Mutation_p.H166Y|ACOT7_ENST00000377845.3_Missense_Mutation_p.H251Y|ACOT7_ENST00000377855.2_Missense_Mutation_p.H281Y	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	281	Acyl coenzyme A hydrolase 2.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		ATCTTGTCATGAAAATTAATG	0.537000													12	49					0	0	0.003163	0	0
FGF12	2257	broad.mit.edu	37	3	192078284	192078284	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:192078284C>T	ENST00000454309.2	-	2	1068	c.243G>A	c.(241-243)caG>caA	p.Q81Q	FGF12_ENST00000264730.3_Silent_p.Q19Q|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Silent_p.Q19Q|FGF12_ENST00000445105.1_Silent_p.Q19Q	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	81					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GGAAGTATCCCTGCTGGCTGA	0.403000													31	48					0	0	0.004289	0	0
ADCY5	111	broad.mit.edu	37	3	123044259	123044259	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:123044259G>A	ENST00000462833.1	-	8	3210	c.1998C>T	c.(1996-1998)tcC>tcT	p.S666S	ADCY5_ENST00000491190.1_Silent_p.S299S|ADCY5_ENST00000309879.5_Silent_p.S316S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	666					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGTGCCCGATGGAGTTGGTTC	0.587000													28	100					0	0	0.003271	0	0
PCDH7	5099	broad.mit.edu	37	4	30725411	30725411	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:30725411C>T	ENST00000361762.2	+	1	3375	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	PCDH7_ENST00000543491.1_Silent_p.F789F	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	789	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAATCCCTTCAAGCTGTTTG	0.463000													7	28					0	0	0.001984	0	0
METTL24	728464	broad.mit.edu	37	6	110620283	110620283	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:110620283G>A	ENST00000338882.4	-	4	627	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	210						extracellular region											TTGACACTAGGATCAAAACGA	0.478000													37	11					0	0	0.002522	0	0
RGS3	5998	broad.mit.edu	37	9	116346160	116346160	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:116346160C>T	ENST00000374140.2	+	21	2677	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	RGS3_ENST00000374134.3_Missense_Mutation_p.S144F|RGS3_ENST00000343817.5_Missense_Mutation_p.S542F|RGS3_ENST00000350696.5_Missense_Mutation_p.S823F|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.S144F	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	823					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCCAGGTCTCCCTGCCAGCC	0.637000													30	24					0	0	0.002445	0	0
PAK7	57144	broad.mit.edu	37	20	9561101	9561101	+	Silent	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:9561101A>C	ENST00000378429.3	-	5	1227	c.681T>G	c.(679-681)ccT>ccG	p.P227P	PAK7_ENST00000378423.1_Silent_p.P227P|PAK7_ENST00000353224.5_Silent_p.P227P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	227	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)			AATAATCCAGAGGGGAGCTAC	0.507000													10	22					0	0	0.008291	0	0
USP37	57695	broad.mit.edu	37	2	219411703	219411703	+	Missense_Mutation	SNP	G	G	A	rs139468408		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219411703G>A	ENST00000258399.3	-	7	953	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	USP37_ENST00000415516.1_Missense_Mutation_p.R109W|USP37_ENST00000338465.5_Missense_Mutation_p.R181W|USP37_ENST00000454775.1_Missense_Mutation_p.R181W|USP37_ENST00000418019.1_Missense_Mutation_p.R181W	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	181					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGAATCGTCCGAGCTATTCCA	0.403000													17	59					0	0	0.007413	0	0
VPS13C	54832	broad.mit.edu	37	15	62182392	62182392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:62182392G>A	ENST00000261517.5	-	67	9386	c.9313C>T	c.(9313-9315)Cag>Tag	p.Q3105*	VPS13C_ENST00000395898.3_Nonsense_Mutation_p.Q3062*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.Q3105*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.Q3062*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3105					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAACTTCCTGCTTGCTTTCA	0.388000													8	25					0	0	0.004482	0	0
GPR26	2849	broad.mit.edu	37	10	125434403	125434403	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:125434403C>T	ENST00000284674.1	+	2	791	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	246					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TCAGCACCTTCATAGGGACCT	0.562000													11	16					0	0	0.000978	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138590	126138590	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:126138590G>A	ENST00000299308.3	+	9	2579	c.2571G>A	c.(2569-2571)aaG>aaA	p.K857K	TMEM132B_ENST00000535886.1_Silent_p.K369K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	857						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGAAGGGAAGAATAAGTTAC	0.517000													4	33					0	0	0.000248	0	0
PRCC	5546	broad.mit.edu	37	1	156756879	156756879	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:156756879C>T	ENST00000271526.4	+	3	1268	c.996C>T	c.(994-996)gcC>gcT	p.A332A	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Silent_p.A332A	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	332					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAAGTGGGGCCCCTTGGATGC	0.567000			T	TFE3	papillary renal								35	139					0	0	0.006230	0	0
STON1	11037	broad.mit.edu	37	2	48808114	48808114	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:48808114C>T	ENST00000309835.3	+	1	352	c.342C>T	c.(340-342)ctC>ctT	p.L114L	STON1-GTF2A1L_ENST00000309827.2_Silent_p.L114L|STON1_ENST00000404752.1_Silent_p.L114L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L114L|STON1_ENST00000406226.1_Silent_p.L114L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L114L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L114L|STON1-GTF2A1L_ENST00000394754.1_Silent_p.L114L					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGCCCACTCGCAATATCAG	0.473000													48	37					0	0	0.003610	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911303	230911303	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:230911303T>G	ENST00000295190.4	-	4	997	c.539A>C	c.(538-540)aAg>aCg	p.K180T		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	180						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCACAGGTACTTCAGCAGCAC	0.587000													15	81					0	0	0.004007	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596131	97596131	+	Silent	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:97596131T>G	ENST00000182096.4	+	1	313	c.249T>G	c.(247-249)gcT>gcG	p.A83A		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATACGTCCGCTGACAGCATGC	0.433000													10	17					0	0	0.006214	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930599	133930599	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:133930599G>A	ENST00000298622.4	+	2	292	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGTGGAACGCGAGAAGAACCA	0.562000													19	20					0	0	0.001523	0	0
SNRNP48	154007	broad.mit.edu	37	6	7605713	7605713	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:7605713C>T	ENST00000342415.5	+	7	859	c.800C>T	c.(799-801)gCc>gTc	p.A267V		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	267					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGGATGATGCCGAAAAGTAC	0.368000													16	41					0	0	0.004990	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157386	26157386	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:26157386C>T	ENST00000325250.1	+	2	471	c.284C>T	c.(283-285)tCc>tTc	p.S95F		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	95							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGTCTAGGTTCCTCAAGGGAA	0.468000													13	13					0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141762966	141762966	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:141762966C>T	ENST00000389484.3	-	15	3412	c.2441G>A	c.(2440-2442)gGa>gAa	p.G814E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	814	EGF-like 3.				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)		CACCCGGCCTCCTGGGATAGC	0.438000										TSP Lung(27;0.18)			19	21					0	0	0.007413	0	0
TMTC2	160335	broad.mit.edu	37	12	83359409	83359409	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:83359409A>C	ENST00000549919.1	+	7	3542	c.1737A>C	c.(1735-1737)ttA>ttC	p.L579F	TMTC2_ENST00000548305.1_Missense_Mutation_p.L585F|TMTC2_ENST00000321196.3_Missense_Mutation_p.L585F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	585						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGACATTCTTAAAGTGTTCGG	0.438000													31	25					0	0	0.001786	0	0
PLCB1	23236	broad.mit.edu	37	20	8698409	8698409	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:8698409G>A	ENST00000378641.3	+	14	1902	c.1427G>A	c.(1426-1428)gGa>gAa	p.G476E	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.G476E|PLCB1_ENST00000338037.6_Missense_Mutation_p.G476E	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	476					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCATCAGAAGGAAGCGGCAAA	0.463000													16	21					0	0	0.004007	0	0
OR2M2	391194	broad.mit.edu	37	1	248343672	248343672	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248343672C>T	ENST00000359682.2	+	1	385	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	129					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)			TATTTGCCACCCTCTAAGATA	0.403000													91	93					0	0	0.003610	0	0
C1orf61	10485	broad.mit.edu	37	1	156374353	156374353	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:156374353G>A	ENST00000368243.1	-	7	580	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	155						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					TTATCAGAGGGAATCCAGCCC	0.403000													20	34					0	0	0.005443	0	0
OR6C1	390321	broad.mit.edu	37	12	55714423	55714423	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:55714423G>A	ENST00000379668.2	+	1	78	c.40G>A	c.(40-42)Gga>Aga	p.G14R		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TATTCTTCTGGGATTAACAGA	0.393000													18	22					0	0	0.001882	0	0
MICALL1	85377	broad.mit.edu	37	22	38313740	38313740	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:38313740C>T	ENST00000215957.6	+	4	490	c.364C>T	c.(364-366)Ctt>Ttt	p.L122F		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	122						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CAGAAAGGGCCTTGCACCCTG	0.612000													34	46					0	0	0.003214	0	0
COL19A1	1310	broad.mit.edu	37	6	70744136	70744136	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:70744136G>A	ENST00000322773.4	+	13	1182		c.e13-1			NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCTTTCTACAGGGTTTGAAAG	0.373000													19	32					0	0	0.002299	0	0
DST	667	broad.mit.edu	37	6	56480379	56480379	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:56480379A>G	ENST00000370765.6	-	24	7993	c.7886T>C	c.(7885-7887)cTt>cCt	p.L2629P	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1925					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAACAGTTTAAGTCCTGTGTG	0.368000													21	44					0	0	0.002299	0	0
PTCHD2	57540	broad.mit.edu	37	1	11591051	11591051	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11591051G>A	ENST00000294484.6	+	16	3328	c.3190G>A	c.(3190-3192)Gag>Aag	p.E1064K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E1064K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1064					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCAACTCCGAGCTGGTGAA	0.612000													67	64					0	0	0.003610	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703829	7703829	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:7703829C>T	ENST00000340209.4	+	9	1082	c.785C>T	c.(784-786)cCg>cTg	p.P262L	RBFOX1_ENST00000550418.1_Missense_Mutation_p.P257L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P300L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P230L|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P214L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P274L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P277L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P300L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P257L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P277L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P277L			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	257					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						CCAGGCTTCCCGTATCCAGCA	0.701000													14	23					0	0	0.004007	0	0
TIAM2	26230	broad.mit.edu	37	6	155458691	155458691	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:155458691G>A	ENST00000461783.3	+	7	2848	c.1575G>A	c.(1573-1575)agG>agA	p.R525R	TIAM2_ENST00000360366.4_Silent_p.R525R|TIAM2_ENST00000318981.5_Silent_p.R525R|TIAM2_ENST00000529824.2_Silent_p.R525R|TIAM2_ENST00000456144.1_Silent_p.R525R|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	525	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAAGGAAAGGAAGCTTGAGC	0.562000													21	9					0	0	0.001882	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596644	142596644	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:142596644C>T	ENST00000370503.2	-	2	509	c.426G>A	c.(424-426)taG>taA	p.*142*	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	0										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGTGTGACTAATCCTCCC	0.433000													35	19					0	0	0.003755	0	0
KIF1A	547	broad.mit.edu	37	2	241726675	241726675	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:241726675G>A	ENST00000498729.2	-	5	668	c.422C>T	c.(421-423)tCc>tTc	p.S141F	KIF1A_ENST00000320389.7_Missense_Mutation_p.S141F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	141	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TACCTCCACGGAGTAGGACAT	0.627000													5	36					0	0	0.000602	0	0
MYRIP	25924	broad.mit.edu	37	3	40085592	40085592	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:40085592G>A	ENST00000396217.3	+	3	277	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	MYRIP_ENST00000444716.1_Silent_p.S54S|MYRIP_ENST00000425621.1_Silent_p.S54S|MYRIP_ENST00000302541.6_Silent_p.S54S			Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	96	RabBD.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCATCCTCTCGAAGCACCAGC	0.542000													9	7					0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883065	228883065	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:228883065C>T	ENST00000392056.3	-	7	2551	c.2505G>A	c.(2503-2505)ctG>ctA	p.L835L	SPHKAP_ENST00000344657.5_Silent_p.L835L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	835						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTATTCCTTTCAGATATATTT	0.488000													17	50					0	0	0.004007	0	0
WIPF2	147179	broad.mit.edu	37	17	38420841	38420841	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:38420841C>T	ENST00000323571.4	+	5	653	c.413C>T	c.(412-414)aCa>aTa	p.T138I	WIPF2_ENST00000583130.1_Missense_Mutation_p.T138I|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.T138I|WIPF2_ENST00000394103.3_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	138						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CAGGATGATACAGACAGCAGC	0.612000										HNSCC(43;0.11)			39	98					0	0	0.005524	0	0
ZNF582	147948	broad.mit.edu	37	19	56895360	56895360	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56895360C>T	ENST00000301310.4	-	5	1584	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	ZNF582_ENST00000586929.1_Missense_Mutation_p.E476K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ACATGTGTTTCTCTATTATGC	0.368000													40	24					0	0	0.002852	0	0
OR4D5	219875	broad.mit.edu	37	11	123811173	123811173	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:123811173C>T	ENST00000307033.2	+	1	924	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		CATGCTGAATCCTGCCATCTA	0.502000													46	21					0	0	0.003610	0	0
SYT16	83851	broad.mit.edu	37	14	62567416	62567416	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:62567416G>A	ENST00000430451.2	+	6	2126	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	643										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACACTTTGCTGGAATCCTAGG	0.517000													12	6					0	0	0.002450	0	0
DSC1	1823	broad.mit.edu	37	18	28737418	28737418	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:28737418C>T	ENST00000257197.3	-	3	528	c.267G>A	c.(265-267)agG>agA	p.R89R	DSC1_ENST00000257198.5_Silent_p.R89R|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	89					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AAAAACTTTTCCTTTCAGAAG	0.428000													11	26					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179642597	179642597	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179642597G>A	ENST00000589042.1	-	25	4538	c.4314C>T	c.(4312-4314)tcC>tcT	p.S1438S	TTN_ENST00000360870.5_Silent_p.S1438S|TTN_ENST00000591111.1_Silent_p.S1438S|TTN_ENST00000460472.2_Silent_p.S1392S|TTN_ENST00000359218.5_Silent_p.S1392S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Silent_p.S1392S|TTN_ENST00000342992.6_Silent_p.S1438S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1438	ZIS5.						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)			TACGTCCAGGGGACATTCTTG	0.488000													29	35					0	0	0.002096	0	0
SYNE4	163183	broad.mit.edu	37	19	36496269	36496269	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:36496269C>T	ENST00000324444.3	-	6	1049	c.938G>A	c.(937-939)cGt>cAt	p.R313H	SYNE4_ENST00000340477.5_Missense_Mutation_p.R200H	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		TCTTTGGTGACGTGCTAAGCG	0.542000													20	10					0	0	0.001523	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261906	23261906	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:23261906G>A	ENST00000450802.3	+	12	1116	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K																								CCGGGGACAAGAAGAGAGGAT	0.572000													12	6					0	0	0.001368	0	0
THSD7B	80731	broad.mit.edu	37	2	137814169	137814169	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:137814169G>A	ENST00000409968.1	+	3	497	c.319G>A	c.(319-321)Gag>Aag	p.E107K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E76K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E107K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTTCAGTGGGAGGTTTCTGA	0.537000													20	12					0	0	0.008871	0	0
ADAM2	2515	broad.mit.edu	37	8	39679182	39679182	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:39679182C>T	ENST00000265708.4	-	5	371		c.e5-1		ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000347580.4_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site|ADAM2_ENST00000523181.1_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGCAGAAATTCTGAAAGATAA	0.308000													6	12					0	0	0.001168	0	0
AKR1C3	8644	broad.mit.edu	37	10	5149682	5149682	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:5149682C>T	ENST00000380554.3	+	9	1611	c.959C>T	c.(958-960)tCa>tTa	p.S320L	AKR1C3_ENST00000605149.1_Missense_Mutation_p.S297L|AKR1C3_ENST00000439082.2_Missense_Mutation_p.S201L	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	320					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TATCCATATTCAGATGAATAT	0.408000													8	23					0	0	0.003080	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748108	19748108	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:19748108C>T	ENST00000400113.3	-	5	1352	c.1248G>A	c.(1246-1248)ggG>ggA	p.G416G		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	416					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CAGAGAACTCCCCCTCCTCCA	0.592000													65	30					0	0	0.003610	0	0
IRF5	3663	broad.mit.edu	37	7	128582311	128582311	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:128582311G>A	ENST00000402030.2	+	2	248	c.176G>A	c.(175-177)gGa>gAa	p.G59E	IRF5_ENST00000473745.1_Missense_Mutation_p.G59E|IRF5_ENST00000477535.1_Missense_Mutation_p.G59E|IRF5_ENST00000357234.5_Missense_Mutation_p.G59E|IRF5_ENST00000249375.4_Missense_Mutation_p.G59E	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	59					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCCAGGACGGAGATAACACC	0.582000													7	36					0	0	0.004482	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052249	55052249	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:55052249G>A	ENST00000474759.1	+	35	2940	c.2892G>A	c.(2890-2892)caG>caA	p.Q964Q	CACNA2D3_ENST00000490478.1_Silent_p.Q870Q|CACNA2D3_ENST00000288197.5_Silent_p.Q964Q|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Silent_p.Q964Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	964						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)		AATTGAAACAGACCCTGGAGC	0.468000													6	4					0	0	0.001168	0	0
SCO1	6341	broad.mit.edu	37	17	10596221	10596221	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:10596221G>A	ENST00000255390.5	-	3	482	c.422C>T	c.(421-423)tCc>tTc	p.S141F	SCO1_ENST00000577427.1_Missense_Mutation_p.S141F	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	141					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						AGTTGTGAGGGAAAACGGTCC	0.443000													22	7					0	0	0.005443	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274188	10274188	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:10274188C>T	ENST00000396573.2	-	3	390	c.81G>A	c.(79-81)gcG>gcA	p.A27A	GRIN2A_ENST00000330684.3_Silent_p.A27A|GRIN2A_ENST00000404927.2_Silent_p.A27A|GRIN2A_ENST00000396575.2_Silent_p.A27A|GRIN2A_ENST00000562109.1_Silent_p.A27A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	27					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACCCTTCTCCGCCGCCGCGC	0.682000													8	20					0	0	0.004482	0	0
RPL4	6124	broad.mit.edu	37	15	66794230	66794230	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:66794230G>A	ENST00000307961.6	-	5	534	c.442C>T	c.(442-444)Cct>Tct	p.P148S	RPL4_ENST00000568588.1_Missense_Mutation_p.P54S	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	148					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GGAAGTTCAGGAACTTCCTCA	0.343000													8	20					0	0	0.004482	0	0
FAM188A	80013	broad.mit.edu	37	10	15824206	15824206	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:15824206G>A	ENST00000378036.1	-	5	1427	c.251C>T	c.(250-252)tCt>tTt	p.S84F	FAM188A_ENST00000277632.3_Missense_Mutation_p.S379F|FAM188A_ENST00000477891.1_5'UTR			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	379					apoptosis	nucleus	calcium ion binding	p.S379Y(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GACAGTAAAAGATTCTGGACC	0.323000													13	19					0	0	0.004007	0	0
RASAL2	9462	broad.mit.edu	37	1	178425968	178425968	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:178425968C>T	ENST00000448150.3	+	13	3109	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F	RASAL2_ENST00000462775.1_Missense_Mutation_p.S634F|RASAL2_ENST00000367649.3_Missense_Mutation_p.S775F	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	634					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						GAACATAACTCCAGTCCAAAT	0.458000													58	72					0	0	0.003610	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305539	99305539	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:99305539C>T	ENST00000336374.2	-	12	1314	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	438					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTTCTGGGTCCACTTCCAAAG	0.383000													22	110					0	0	0.003330	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433193	204433193	+	Silent	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:204433193C>A	ENST00000367187.3	-	6	1813	c.1257G>T	c.(1255-1257)gtG>gtT	p.V419V	PIK3C2B_ENST00000424712.2_Silent_p.V419V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	419					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CACCCACGTCCACATTCCTCA	0.537000													21	79					6.44725e-10	9.89217e-10	0.002299	1	0
HCRTR2	3062	broad.mit.edu	37	6	55142322	55142322	+	Missense_Mutation	SNP	G	G	A	rs35417906		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:55142322G>A	ENST00000370862.3	+	5	1243	c.907G>A	c.(907-909)Gcc>Acc	p.A303T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	303					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGGAAAACAGCCCGGATGTT	0.468000													17	37					0	0	0.006122	0	0
PBX1	5087	broad.mit.edu	37	1	164789377	164789377	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:164789377G>A	ENST00000420696.2	+	7	1254	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	PBX1_ENST00000560641.1_Missense_Mutation_p.D251N|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.D251N|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540236.1_Missense_Mutation_p.D356N	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	356					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACTCAATGGGGATTCTTACCA	0.498000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								12	37					0	0	0.004990	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399661	47399661	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:47399661G>A	ENST00000310638.4	-	9	1210	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	CYP4A11_ENST00000371904.4_Silent_p.L394L|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371905.1_Silent_p.L393L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	393					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)	CGGGAGTGCTGAGCTCTCTGC	0.577000													16	20					0	0	0.004990	0	0
LRP2	4036	broad.mit.edu	37	2	170076989	170076989	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:170076989C>T	ENST00000263816.3	-	34	5908	c.5623G>A	c.(5623-5625)Ggc>Agc	p.G1875S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1875					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)	ACAGTTATGCCAATTGGAAAG	0.418000													15	24					0	0	0.004990	0	0
ANK3	288	broad.mit.edu	37	10	61846602	61846602	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:61846602C>T	ENST00000280772.1	-	30	3772	c.3581G>A	c.(3580-3582)gGa>gAa	p.G1194E	ANK3_ENST00000503366.1_Missense_Mutation_p.G1195E|ANK3_ENST00000373827.2_Missense_Mutation_p.G1188E|ANK3_ENST00000355288.2_Missense_Mutation_p.G328E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1194					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCTTTGTTTCCAAGGATCTT	0.413000													15	13					0	0	0.003163	0	0
EXOSC9	5393	broad.mit.edu	37	4	122728768	122728768	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:122728768T>A	ENST00000512454.1	+	5	764	c.548T>A	c.(547-549)tTc>tAc	p.F183Y	EXOSC9_ENST00000243498.5_Missense_Mutation_p.F199Y|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.F199Y			Q06265	EXOS9_HUMAN	exosome component 9	199	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TTTGCCTTTTTCCAGCAAGGG	0.363000													13	44					0	0	0.003163	0	0
KRT78	196374	broad.mit.edu	37	12	53242420	53242420	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:53242420C>T	ENST00000304620.4	-	1	358	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	99	Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGATCGATCTCAATCTTCAGT	0.572000													9	45					0	0	0.000978	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918754	17918754	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:17918754C>T	ENST00000318683.6	+	2	285	c.138C>T	c.(136-138)gcC>gcT	p.A46A	B3GNT3_ENST00000595387.1_Silent_p.A46A	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	46					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TCCCCGAGGCCCTGGCCTGGC	0.682000													12	5					0	0	0.000978	0	0
OR5V1	81696	broad.mit.edu	37	6	29323269	29323269	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:29323269C>T	ENST00000377154.1	-	4	1003	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	OR5V1_ENST00000543825.1_Missense_Mutation_p.R235Q			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAGGCTTTTCGTCTTCCCTC	0.458000													20	45					0	0	0.007413	0	0
C7	730	broad.mit.edu	37	5	40959592	40959592	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:40959592C>T	ENST00000313164.9	+	12	1890	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	511	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTCTTGGAGCCCCTGTGTCCA	0.502000													12	19					0	0	0.000978	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298562	125298562	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:125298562G>A	ENST00000538699.1	-	2	1426	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.P449L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	449										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGAAGGGAGAGGCCCCCCAGC	0.562000													35	20					0	0	0.003271	0	0
WDR70	55100	broad.mit.edu	37	5	37725138	37725138	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:37725138C>T	ENST00000265107.4	+	16	1856	c.1700C>T	c.(1699-1701)cCt>cTt	p.P567L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	567										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGAACCTCCTGTAGCAGGC	0.542000													22	44					0	0	0.003954	0	0
C4orf22	255119	broad.mit.edu	37	4	81866048	81866048	+	Silent	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:81866048T>A	ENST00000358105.3	+	5	610	c.561T>A	c.(559-561)ctT>ctA	p.L187L	C4orf22_ENST00000508675.1_Silent_p.L204L	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	187										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AAGGCTTACTTTTCAGATACA	0.333000													30	36					0	0	0.002096	0	0
DBX1	120237	broad.mit.edu	37	11	20178065	20178065	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:20178065C>T	ENST00000524983.2	-	4	1015	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	DBX1_ENST00000227256.3_Missense_Mutation_p.E282K			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	243					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GACAGGAGTTCGCGCTCCTTG	0.622000													8	11					0	0	0.006214	0	0
PLCH1	23007	broad.mit.edu	37	3	155206496	155206496	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:155206496C>T	ENST00000460012.1	-	20	2759	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	PLCH1_ENST00000494598.1_Missense_Mutation_p.R819Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R801Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R819Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R801Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R819Q			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	819	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACAAAGTCTCGTCCAATGGG	0.453000													7	13					0	0	0.001984	0	0
SH3TC2	79628	broad.mit.edu	37	5	148408258	148408258	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:148408258G>A	ENST00000515425.1	-	10	1260	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	SH3TC2_ENST00000512049.1_Missense_Mutation_p.P380S|SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.P272S|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	387							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)			TCATTTGGAGGATTCTGGATG	0.517000													33	19					0	0	0.004878	0	0
OR10K1	391109	broad.mit.edu	37	1	158436014	158436014	+	Silent	SNP	C	C	T	rs151132888	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158436014C>T	ENST00000289451.2	+	1	743	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACATCCGCATCATCTCTGCCA	0.473000													12	42					0	0	0.002450	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907738	164907738	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:164907738C>T	ENST00000475390.1	-	2	1324	c.881G>A	c.(880-882)gGa>gAa	p.G294E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G294E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	294						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATGTGGAATTCCCAAACTAGC	0.453000										HNSCC(40;0.11)			14	58					0	0	0.003163	0	0
SARM1	23098	broad.mit.edu	37	17	26711585	26711585	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:26711585C>T	ENST00000457710.3	+	3	1668	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	433					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCGAGAGCTTCCGGGTAGAGT	0.682000													5	2					0	0	0.000602	0	0
WEE2	494551	broad.mit.edu	37	7	141408682	141408682	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:141408682G>A	ENST00000397541.2	+	1	530	c.124G>A	c.(124-126)Gag>Aag	p.E42K	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	42					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCAAACCCCAGAGAAGGGTGA	0.473000													18	99					0	0	0.007413	0	0
USP34	9736	broad.mit.edu	37	2	61528235	61528235	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:61528235G>A	ENST00000398571.2	-	29	4055	c.3979C>T	c.(3979-3981)Cca>Tca	p.P1327S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1327					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAAGATGCTGGCAGCTGAACA	0.403000													81	108					0	0	0.003610	0	0
L1TD1	54596	broad.mit.edu	37	1	62676049	62676049	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:62676049G>A	ENST00000498273.1	+	4	1898	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	535	Poly-Glu.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AACCCAGGAGGAAGAGGAAAC	0.473000													10	14					0	0	0.006214	0	0
SCARA3	51435	broad.mit.edu	37	8	27516076	27516076	+	Missense_Mutation	SNP	G	G	A	rs34791518	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:27516076G>A	ENST00000301904.3	+	5	409	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	SCARA3_ENST00000337221.4_Missense_Mutation_p.R130Q	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	130			R -> Q (in dbSNP:rs34791518).		response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCAGAGATCCGAAAACTGCAG	0.562000													51	50					0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240370842	240370842	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:240370842C>T	ENST00000319653.9	+	5	2960	c.2730C>T	c.(2728-2730)ccC>ccT	p.P910P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	910	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCTGCCACCCCCTCCCCCTC	0.657000													25	20					0	0	0.005443	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764753	77764753	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:77764753G>A	ENST00000521891.2	+	10	6044	c.5596G>A	c.(5596-5598)Gaa>Aaa	p.E1866K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1821K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1840K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1821K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1821						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAAAAGCCAGAAAAACCAAA	0.408000										HNSCC(33;0.089)			6	5					0	0	0.003080	0	0
SCN11A	11280	broad.mit.edu	37	3	38912214	38912214	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:38912214C>T	ENST00000450244.1	-	22	3979	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N	SCN11A_ENST00000444237.2_Missense_Mutation_p.D1261N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D1223N|SCN11A_ENST00000302328.3_Missense_Mutation_p.D1261N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1261					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATATAATATCCATCCAGCCC	0.403000													15	13					0	0	0.004007	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528442	77528442	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:77528442C>T	ENST00000373304.3	-	3	1094	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	268					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	p.D268N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGGACAGAATCACAGGGTTTA	0.418000													27	10					0	0	0.004656	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299536	112299536	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:112299536C>T	ENST00000492406.1	+	6	855	c.572C>T	c.(571-573)tCc>tTc	p.S191F	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	191						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCTTCCAATTCCTGCCTTCTT	0.443000													10	53					0	0	0.002450	0	0
USH2A	7399	broad.mit.edu	37	1	216073536	216073536	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:216073536G>A	ENST00000366943.2	-	40	7861	c.7475C>T	c.(7474-7476)tCg>tTg	p.S2492L	USH2A_ENST00000307340.3_Missense_Mutation_p.S2492L|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2492	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAGCTTAACGATGCAGAAGG	0.368000										HNSCC(13;0.011)			15	18					0	0	0.004007	0	0
CCDC170	80129	broad.mit.edu	37	6	151859284	151859284	+	Silent	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:151859284C>A	ENST00000367290.5	+	3	380	c.291C>A	c.(289-291)ctC>ctA	p.L97L	CCDC170_ENST00000239374.7_Silent_p.L97L|CCDC170_ENST00000544131.1_3'UTR			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	97																	AATCATCTCTCCTTACCTCTT	0.418000													12	8					1.05317e-09	1.61342e-09	0.002450	1	0
FAM76A	199870	broad.mit.edu	37	1	28075618	28075618	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:28075618C>T	ENST00000373954.6	+	6	654	c.552C>T	c.(550-552)atC>atT	p.I184I	FAM76A_ENST00000234549.7_Intron|FAM76A_ENST00000010299.6_Silent_p.I218I|FAM76A_ENST00000419687.2_Intron|FAM76A_ENST00000530324.1_Silent_p.I184I|FAM76A_ENST00000373949.1_Intron	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	184										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AAAATGAAATCCCAAAGAAAA	0.358000													6	14					0	0	0.001984	0	0
NOX1	27035	broad.mit.edu	37	X	100104846	100104846	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:100104846C>A	ENST00000372966.3	-	10	1416	c.1211G>T	c.(1210-1212)gGa>gTa	p.G404V	NOX1_ENST00000372960.4_Missense_Mutation_p.G367V|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.G404V	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	404	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GACCCCAATTCCTGCTCCAAC	0.463000													21	5					8.10497e-08	1.23975e-07	0.001523	1	0
SCN5A	6331	broad.mit.edu	37	3	38655513	38655513	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:38655513C>T	ENST00000413689.1	-	6	849	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	SCN5A_ENST00000455624.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000333535.4_Intron|SCN5A_ENST00000450102.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000425664.1_Missense_Mutation_p.R219Q|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000451551.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000443581.1_Intron	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	219					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTGAAAGTTCGAAGAGCCGA	0.433000													5	3					0	0	0.001984	0	0
OBFC1	79991	broad.mit.edu	37	10	105648836	105648836	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:105648836G>A	ENST00000224950.3	-	9	1110	c.943C>T	c.(943-945)Cca>Tca	p.P315S	OBFC1_ENST00000369764.1_Missense_Mutation_p.P315S|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	315					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TTACGATTTGGTTTCTGGCAG	0.498000													30	28					0	0	0.003271	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389785	150389785	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150389785C>T	ENST00000223293.5	+	3	505	c.411C>T	c.(409-411)gcC>gcT	p.A137A		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	137						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGAGGATGCCATGGGACACA	0.542000													9	29					0	0	0.004482	0	0
THSD7A	221981	broad.mit.edu	37	7	11485797	11485797	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:11485797C>T	ENST00000423059.3	-	13	3206	c.2955G>A	c.(2953-2955)atG>atA	p.M985I	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	985	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTGTACTTTCATTCCCAGCA	0.433000										HNSCC(18;0.044)			30	116					0	0	0.007291	0	0
GLRB	2743	broad.mit.edu	37	4	158057641	158057641	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:158057641C>T	ENST00000264428.4	+	5	588	c.318C>T	c.(316-318)ttC>ttT	p.F106F	GLRB_ENST00000541722.1_Silent_p.F106F|GLRB_ENST00000509282.1_Silent_p.F106F|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	106					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTAACATCTTCCTGAGACAAA	0.408000													13	30					0	0	0.001368	0	0
PPFIA2	8499	broad.mit.edu	37	12	81661707	81661707	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:81661707G>A	ENST00000550584.2	-	28	3765	c.3470C>T	c.(3469-3471)cCa>cTa	p.P1157L	PPFIA2_ENST00000550359.2_Missense_Mutation_p.P1004L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P1157L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P1052L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P1145L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P1056L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P1151L|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P343L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P1136L|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P693L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P1142L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1056										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTTCTGTGTTGGAATCTGTAA	0.363000													4	3					0	0	0.001168	0	0
C6orf118	168090	broad.mit.edu	37	6	165715408	165715408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:165715408G>A	ENST00000543069.1	-	2	672	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	C6orf118_ENST00000230301.8_Nonsense_Mutation_p.Q135*			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	135										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGAGAGGCCTGGGGGTTCAGG	0.627000													34	17					0	0	0.004289	0	0
GPR112	139378	broad.mit.edu	37	X	135428725	135428725	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:135428725C>T	ENST00000394143.1	+	6	3151	c.2860C>T	c.(2860-2862)Ccc>Tcc	p.P954S	GPR112_ENST00000370652.1_Missense_Mutation_p.P954S|GPR112_ENST00000287534.4_Missense_Mutation_p.P891S|GPR112_ENST00000394141.1_Missense_Mutation_p.P749S|GPR112_ENST00000412101.1_Missense_Mutation_p.P749S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	954					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)					AGCTGGATCTCCCACTTCTGG	0.443000													82	39					0	0	0.003610	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359786	77359786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:77359786C>T	ENST00000282849.5	-	13	2427	c.2009G>A	c.(2008-2010)tGg>tAg	p.W670*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	670	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATAGGGTTTCCACTGGTAGAA	0.378000													15	33					0	0	0.008871	0	0
CHMP6	79643	broad.mit.edu	37	17	78972191	78972191	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:78972191C>T	ENST00000325167.5	+	7	599	c.521C>T	c.(520-522)cCc>cTc	p.P174L		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	174	Interaction with VPS4A.				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCAGAGGTTCCCTCCGAGCCC	0.527000													96	28					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32024387	32024387	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32024387G>A	ENST00000375244.3	-	23	8320	c.8119C>T	c.(8119-8121)Ccc>Tcc	p.P2707S	TNXB_ENST00000375247.2_Missense_Mutation_p.P2707S			P22105	TENX_HUMAN	tenascin XB	2767	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACAGAGATGGGGCCCACGCGC	0.632000													85	288					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881353	228881353	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:228881353G>A	ENST00000392056.3	-	7	4263	c.4217C>T	c.(4216-4218)tCc>tTc	p.S1406F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1406F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1406						cytoplasm	protein binding	p.S1406F(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGCACGAGGAAGTTTCTTT	0.438000													16	63					0	0	0.007413	0	0
TGM7	116179	broad.mit.edu	37	15	43571345	43571345	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:43571345G>A	ENST00000452443.2	-	11	1813	c.1809C>T	c.(1807-1809)atC>atT	p.I603I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	603					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GCTCCAGACAGATATCTTTTA	0.552000													3	14					0	0	0.004672	0	0
MTG1	92170	broad.mit.edu	37	10	135213098	135213098	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:135213098C>T	ENST00000468317.2	+	7	756	c.501C>T	c.(499-501)tcC>tcT	p.S167S	MTG1_ENST00000317502.6_Silent_p.S162S|MTG1_ENST00000477902.2_Silent_p.S121S																							TCATCAACTCCCTCCGGAGGC	0.602000													12	54					0	0	0.003163	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74196554	74196554	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:74196554G>A	ENST00000286523.5	-	4	2666	c.1884C>T	c.(1882-1884)acC>acT	p.T628T	ELMSAN1_ENST00000394071.2_Silent_p.T628T	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		TCTGGTATGGGGTGATGTTGG	0.657000													20	9					0	0	0.008871	0	0
ALMS1	7840	broad.mit.edu	37	2	73717557	73717557	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:73717557C>T	ENST00000264448.6	+	10	8579	c.8468C>T	c.(8467-8469)cCc>cTc	p.P2823L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P2781L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2823					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTCTGAGCCCAGTACCAGG	0.403000													5	24					0	0	0.000602	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390068	93390068	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:93390068G>A	ENST00000238994.5	-	2	654	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	190	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TCCAAGAATCGAAAGTGATAC	0.413000													16	19					0	0	0.004007	0	0
SMC1B	27127	broad.mit.edu	37	22	45795022	45795022	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:45795022C>T	ENST00000357450.4	-	6	1065	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	SMC1B_ENST00000404354.3_Missense_Mutation_p.E356K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	356					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAAATTTCTTCCTCAATCTGC	0.378000													57	96					0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	138329995	138329995	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:138329995G>A	ENST00000409968.1	+	17	3470	c.3292G>A	c.(3292-3294)Ggt>Agt	p.G1098S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1070S|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1101S					thrombospondin, type I, domain containing 7B									p.G1101S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TACTGCGGATGGTGAAGGTGG	0.403000													15	12					0	0	0.004007	0	0
PRAM1	84106	broad.mit.edu	37	19	8564197	8564197	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:8564197C>T	ENST00000423345.4	-	2	1015	c.495G>A	c.(493-495)cgG>cgA	p.R165R	PRAM1_ENST00000255612.3_Silent_p.R165R			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	213	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|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						GCAGGGGTTTCCGGGCCGGCG	0.692000													10	7					0	0	0.008291	0	0
HTR2C	3358	broad.mit.edu	37	X	114141243	114141243	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:114141243C>T	ENST00000371950.3	+	6	1271	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	HTR2C_ENST00000276198.1_Silent_p.F214F|HTR2C_ENST00000371951.1_Silent_p.F214F	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCCAAATTTCGTTCTTATTG	0.468000													119	77					0	0	0.003610	0	0
DENND2C	163259	broad.mit.edu	37	1	115130440	115130440	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:115130440G>A	ENST00000393274.1	-	19	3190	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.S798S|DENND2C_ENST00000393277.1_Silent_p.S743S	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	855	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAGGTGTGGGACTTACGGA	0.478000													20	26					0	0	0.002780	0	0
FES	2242	broad.mit.edu	37	15	91434838	91434838	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:91434838C>T	ENST00000328850.3	+	12	1727	c.1585C>T	c.(1585-1587)Cac>Tac	p.H529Y	FES_ENST00000450438.2_Missense_Mutation_p.H401Y|FES_ENST00000394302.1_Missense_Mutation_p.H401Y|FES_ENST00000444422.2_Missense_Mutation_p.H459Y|FES_ENST00000394300.3_Missense_Mutation_p.H471Y|FES_ENST00000414248.2_Missense_Mutation_p.H401Y	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	529	SH2.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTCATCGACCACCTACTGAG	0.627000													42	266					0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38743465	38743465	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:38743465G>A	ENST00000449082.2	-	26	4521	c.4522C>T	c.(4522-4524)Ctg>Ttg	p.L1508L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1508					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATTTTGCCCAGAATTTTCGTC	0.448000													16	10					0	0	0.006122	0	0
NPTXR	23467	broad.mit.edu	37	22	39218644	39218644	+	Silent	SNP	G	G	A	rs145163836		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:39218644G>A	ENST00000333039.2	-	5	1596	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	491	Pentaxin.					integral to membrane	metal ion binding	p.F491F(2)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGACATCGAAGGCAGCCT	0.622000													9	15					0	0	0.008291	0	0
ARL4A	10124	broad.mit.edu	37	7	12728360	12728360	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:12728360C>T	ENST00000396663.1	+	2	963	c.481C>T	c.(481-483)Cct>Tct	p.P161S	ARL4A_ENST00000396662.1_Missense_Mutation_p.P161S|ARL4A_ENST00000404894.1_Missense_Mutation_p.P161S|ARL4A_ENST00000396664.2_Missense_Mutation_p.P161S|ARL4A_ENST00000356797.3_Missense_Mutation_p.P161S	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	161					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		CTCATCAACTCCTTGGCATTT	0.388000													45	32					0	0	0.003610	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681324	44681324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:44681324G>A	ENST00000381176.4	-	4	715	c.583C>T	c.(583-585)Cag>Tag	p.Q195*		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	195						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GACGAACTCTGGAAGGTCATC	0.597000													16	38					0	0	0.006122	0	0
PTCRA	171558	broad.mit.edu	37	6	42890985	42890985	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:42890985C>T	ENST00000304672.1	+	2	360	c.279C>T	c.(277-279)tcC>tcT	p.S93S	PTCRA_ENST00000441198.1_Silent_p.S68S|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	93						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CCCATCTCTCCCTGCCTTCTG	0.612000													38	104					0	0	0.005524	0	0
TIPARP	25976	broad.mit.edu	37	3	156422824	156422824	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:156422824C>T	ENST00000461166.1	+	6	2466	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	TIPARP_ENST00000542783.1_Silent_p.F626F|TIPARP_ENST00000486483.1_Silent_p.F626F|TIPARP_ENST00000295924.7_Silent_p.F626F	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	626	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			tggataatttctttgagcctc	0.418000													7	25					0	0	0.001984	0	0
HGFAC	3083	broad.mit.edu	37	4	3449220	3449220	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:3449220C>T	ENST00000382774.3	+	11	1472	c.1355_splice	c.e11-1	p.P453_splice	HGFAC_ENST00000511533.1_Splice_Site_p.P460_splice	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	453	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTGCACAGCCCCCCCAGGGA	0.672000													17	39					0	0	0.004990	0	0
TRPM6	140803	broad.mit.edu	37	9	77416879	77416879	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:77416879C>T	ENST00000451710.3	-	16	2181	c.1944G>A	c.(1942-1944)atG>atA	p.M648I	TRPM6_ENST00000361255.3_Missense_Mutation_p.M643I|TRPM6_ENST00000449912.2_Missense_Mutation_p.M643I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.M648I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.M648I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	648					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTCATGGGCCATTGCCCGGT	0.468000													24	14					0	0	0.003954	0	0
TIAM1	7074	broad.mit.edu	37	21	32554834	32554834	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:32554834C>T	ENST00000286827.3	-	16	3262	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	TIAM1_ENST00000541036.1_Missense_Mutation_p.E871K	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	931					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACTCCTTCCTCCAGCTCGGGG	0.612000													22	9					0	0	0.002780	0	0
RNF217	154214	broad.mit.edu	37	6	125379091	125379091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:125379091C>T	ENST00000521654.2	+	3	1120	c.1120C>T	c.(1120-1122)Cag>Tag	p.Q374*	RNF217_ENST00000275184.6_Nonsense_Mutation_p.Q18*|RNF217_ENST00000560949.1_Nonsense_Mutation_p.Q139*|RNF217_ENST00000359704.2_Nonsense_Mutation_p.Q82*|RNF217_ENST00000368414.2_5'UTR			Q8TC41	RN217_HUMAN	ring finger protein 217	82					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TACACAGATCCAGTGCCCTAC	0.383000													28	8					0	0	0.006320	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142295	48142295	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:48142295C>T	ENST00000405493.2	-	12	1268	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	RAPGEF3_ENST00000449771.2_Silent_p.K395K|RAPGEF3_ENST00000549151.1_Silent_p.K353K|RAPGEF3_ENST00000171000.4_Silent_p.K353K|RAPGEF3_ENST00000548919.1_Silent_p.K353K|RAPGEF3_ENST00000395358.3_Silent_p.K395K|RAPGEF3_ENST00000389212.3_Silent_p.K395K	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	353					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)		GCTCTAGGATCTTCTCTGGGG	0.537000													14	52					0	0	0.006122	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769651	31769651	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:31769651C>T	ENST00000240587.4	-	2	1375	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	350					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGAAGTGCATCGTTGGTGTCT	0.567000													74	49					0	0	0.003610	0	0
TAB2	23118	broad.mit.edu	37	6	149691193	149691193	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:149691193C>T	ENST00000367456.1	+	3	637	c.60C>T	c.(58-60)ttC>ttT	p.F20F	TAB2_ENST00000392282.1_Silent_p.F20F|TAB2_ENST00000538427.1_Silent_p.F20F|TAB2_ENST00000536230.1_Intron|TAB2_ENST00000286332.5_Silent_p.F20F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	20	CUE.				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GACAAAAATTCCCTGAAGTAC	0.373000													17	16					0	0	0.007413	0	0
LEPR	3953	broad.mit.edu	37	1	66102189	66102189	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:66102189G>A	ENST00000349533.6	+	20	3174	c.2989G>A	c.(2989-2991)Gaa>Aaa	p.E997K	LEPR_ENST00000406510.3_Missense_Mutation_p.E64K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	997					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TAAACCAAGTGAAACTGGTGA	0.438000													9	23					0	0	0.006214	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150178	39150178	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:39150178G>A	ENST00000391586.1	-	1	207	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	58	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGGCTGAGGAATGTGGCAG	0.622000													50	13					0	0	0.003610	0	0
CLEC18B	497190	broad.mit.edu	37	16	74443540	74443540	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:74443540C>T	ENST00000339953.5	-	12	1360		c.e12-1			NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B							extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTTGCCAAACCTGCAGGCCAG	0.602000													7	63					0	0	0.003080	0	0
CENPJ	55835	broad.mit.edu	37	13	25487158	25487158	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:25487158G>A	ENST00000381884.4	-	2	191	c.6C>T	c.(4-6)ttC>ttT	p.F2F	CENPJ_ENST00000545981.1_Silent_p.F2F	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	2					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTGGCATCAGGAACATCTTAG	0.403000													22	12					0	0	0.003330	0	0
LGI1	9211	broad.mit.edu	37	10	95556907	95556907	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:95556907G>A	ENST00000371418.4	+	8	1281	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	LGI1_ENST00000542308.1_Missense_Mutation_p.E293K|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	341					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATTCAAGATTGAAAACAACTG	0.343000													25	27					0	0	0.002096	0	0
MUC16	94025	broad.mit.edu	37	19	9066603	9066603	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9066603G>A	ENST00000397910.4	-	3	21046	c.20843C>T	c.(20842-20844)tCc>tTc	p.S6948F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6950	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6948F(2)|p.S2581F(1)		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						AGGAGTCAAGGAATATGTTGA	0.448000													67	39					0	0	0.003610	0	0
INHBA	3624	broad.mit.edu	37	7	41729703	41729703	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:41729703C>T	ENST00000242208.4	-	3	1072	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.E276K|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	276					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						gccccaccttcacctccgccc	0.597000										TSP Lung(11;0.080)			35	10					0	0	0.002445	0	0
ICAM5	7087	broad.mit.edu	37	19	10404813	10404813	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:10404813G>A	ENST00000221980.4	+	8	1872	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	603	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGAAGCCACAGCCAAGCGTGA	0.647000													47	28					0	0	0.003610	0	0
HOXC11	3227	broad.mit.edu	37	12	54367345	54367345	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:54367345C>T	ENST00000546378.1	+	1	436	c.320C>T	c.(319-321)cCt>cTt	p.P107L	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.P107L			O43248	HXC11_HUMAN	homeobox C11	107					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						TGCCTGCCTCCTTCCACCGTC	0.652000			T	NUP98	AML								76	85					0	0	0.003610	0	0
ACAN	176	broad.mit.edu	37	15	89399999	89399999	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:89399999C>T	ENST00000439576.2	+	12	4557	c.4183C>T	c.(4183-4185)Cct>Tct	p.P1395S	ACAN_ENST00000561243.1_Missense_Mutation_p.P1395S|ACAN_ENST00000559004.1_Missense_Mutation_p.P1395S|ACAN_ENST00000352105.7_Missense_Mutation_p.P1395S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1395					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCGGGCTTCCTTCTGGAGA	0.547000													32	80					0	0	0.004878	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958838	51958838	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:51958838C>T	ENST00000321424.3	-	4	951	c.885G>A	c.(883-885)tgG>tgA	p.W295*	SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.W186*|SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.W202*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	295	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCCCCGGGTCCAGCTCAGCC	0.632000													24	9					0	0	0.002780	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857170	9857170	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:9857170A>C	ENST00000396573.2	-	14	4540	c.4231T>G	c.(4231-4233)Tac>Gac	p.Y1411D	GRIN2A_ENST00000330684.3_Missense_Mutation_p.Y1411D|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Y1411D|GRIN2A_ENST00000562109.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1411					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGAACAGTACGATGCCGTT	0.502000													30	22					0	0	0.001786	0	0
OR2T10	127069	broad.mit.edu	37	1	248756748	248756748	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248756748C>T	ENST00000330500.2	-	1	352	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TCTGCACCTCCCAACTGCAGG	0.547000													14	28					0	0	0.001855	0	0
SPOCK2	9806	broad.mit.edu	37	10	73830155	73830155	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:73830155C>T	ENST00000373109.2	-	5	833	c.389G>A	c.(388-390)gGa>gAa	p.G130E	SPOCK2_ENST00000536168.1_Missense_Mutation_p.G130E|SPOCK2_ENST00000317376.4_Missense_Mutation_p.G130E	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	130	Kazal-like.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GTCTTTGTTTCCATGGAGTTT	0.602000													13	31					0	0	0.003163	0	0
PCP4	5121	broad.mit.edu	37	21	41301006	41301006	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:41301006C>T	ENST00000328619.5	+	3	344	c.159C>T	c.(157-159)ttC>ttT	p.F53F	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	53	IQ.				central nervous system development	cytosol|nucleus		p.F53L(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				TCAGAAAATTCCAGAAGAAGA	0.448000													13	30					0	0	0.003163	0	0
RFX6	222546	broad.mit.edu	37	6	117201826	117201826	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:117201826G>A	ENST00000332958.2	+	3	516	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	167					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCACCTTTGGAAAGGTAAAT	0.403000													8	4					0	0	0.006214	0	0
MYH2	4620	broad.mit.edu	37	17	10427974	10427974	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:10427974G>A	ENST00000245503.5	-	35	5368	c.4984C>T	c.(4984-4986)Cac>Tac	p.H1662Y	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.H1662Y|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1662					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCATCCAGGTGGATCTGGGTA	0.552000													21	17					0	0	0.001523	0	0
MACF1	23499	broad.mit.edu	37	1	39800121	39800121	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:39800121C>T	ENST00000564288.1	+	37	8638	c.7861C>T	c.(7861-7863)Ccc>Tcc	p.P2621S	MACF1_ENST00000567887.1_Missense_Mutation_p.P2658S|MACF1_ENST00000372915.3_Missense_Mutation_p.P2626S|MACF1_ENST00000289893.4_Missense_Mutation_p.P1061S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2626					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTGTAGATCCCGAGAACTG	0.393000													24	24					0	0	0.004656	0	0
LTA	4049	broad.mit.edu	37	6	31541203	31541203	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31541203G>A	ENST00000454783.1	+	4	609	c.351G>A	c.(349-351)ggG>ggA	p.G117G	LTA_ENST00000418386.2_Silent_p.G117G	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	117					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TCTTCTCTGGGAAAGCCTACT	0.577000													26	65					0	0	0.006320	0	0
TTI1	9675	broad.mit.edu	37	20	36612003	36612003	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:36612003G>A	ENST00000373448.2	-	9	3363	c.3125C>T	c.(3124-3126)aCc>aTc	p.T1042I	TTI1_ENST00000373447.3_Missense_Mutation_p.T1042I|TTI1_ENST00000449821.1_Missense_Mutation_p.T1042I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	1042							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GAGGAACCAGGTGGAGTCTGG	0.607000													11	33					0	0	0.001855	0	0
RXFP2	122042	broad.mit.edu	37	13	32376410	32376410	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:32376410G>A	ENST00000298386.2	+	18	2204	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	RXFP2_ENST00000380314.1_Silent_p.R687R	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	711						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AACATCAGAGGAAATCAATTT	0.353000													51	17					0	0	0.003610	0	0
LRFN2	57497	broad.mit.edu	37	6	40400092	40400092	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:40400092C>T	ENST00000338305.6	-	2	1303	c.761G>A	c.(760-762)cGg>cAg	p.R254Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	254	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCGAGCCTCCGCAGCCAGAG	0.592000													11	47					0	0	0.002450	0	0
DMBT1	1755	broad.mit.edu	37	10	124402684	124402684	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:124402684C>T	ENST00000368909.3	+	53	7118	c.7012C>T	c.(7012-7014)Cgc>Tgc	p.R2338C	DMBT1_ENST00000330163.4_Missense_Mutation_p.R1710C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1058C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2328C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1710C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2328C|DMBT1_ENST00000338354.3_Missense_Mutation_p.R2338C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2338	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCATCTCTTCGCATTGCCCG	0.567000													21	44					0	0	0.001523	0	0
COL6A3	1293	broad.mit.edu	37	2	238274452	238274452	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:238274452C>T	ENST00000295550.4	-	12	6179	c.5727G>A	c.(5725-5727)gaG>gaA	p.E1909E	COL6A3_ENST00000346358.4_Silent_p.E1709E|COL6A3_ENST00000347401.3_Silent_p.E1708E|COL6A3_ENST00000472056.1_Silent_p.E1302E|COL6A3_ENST00000353578.4_Silent_p.E1703E|COL6A3_ENST00000409809.1_Silent_p.E1703E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1909	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCTCGAGCATCTCTGGCTGGT	0.637000													23	26					0	0	0.001882	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049324	36049324	+	Silent	SNP	G	G	A	rs148290056	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:36049324G>A	ENST00000282507.3	-	4	611	c.510C>T	c.(508-510)ttC>ttT	p.F170F	UGT3A2_ENST00000513300.1_Silent_p.F136F|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	170						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAAAGAGCCGAATGAAGTGG	0.453000													27	26					0	0	0.006320	0	0
ACACA	31	broad.mit.edu	37	17	35536296	35536296	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:35536296G>A	ENST00000353139.5	-	41	5465	c.4984C>T	c.(4984-4986)Ccc>Tcc	p.P1662S	ACACA_ENST00000335166.5_Missense_Mutation_p.P1547S|ACACA_ENST00000394406.2_Missense_Mutation_p.P1625S|ACACA_ENST00000360679.3_Missense_Mutation_p.P1567S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1625					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGCAGAGGGGGAGATGGAAGA	0.448000													6	11					0	0	0.001168	0	0
OR2J3	442186	broad.mit.edu	37	6	29080401	29080401	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:29080401G>A	ENST00000377169.1	+	1	734	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GGAACATGTGGAGCTCATCTT	0.463000													33	70					0	0	0.004289	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96646451	96646451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:96646451G>A	ENST00000456556.1	-	5	760	c.676C>T	c.(676-678)Cga>Tga	p.R226*						ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TACACATCTCGAGAAAACACA	0.368000													7	8					0	0	0.003080	0	0
ABCC2	1244	broad.mit.edu	37	10	101601754	101601754	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:101601754G>A	ENST00000370449.4	+	26	3758	c.3645G>A	c.(3643-3645)ggG>ggA	p.G1215G		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1215	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGCTGGTTGGGAACCTGACTG	0.493000													48	34					0	0	0.003610	0	0
ZNF688	146542	broad.mit.edu	37	16	30581590	30581590	+	Missense_Mutation	SNP	C	C	G	rs71699848		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:30581590C>G	ENST00000223459.6	-	3	1582	c.478G>C	c.(478-480)Gac>Cac	p.D160H	ZNF688_ENST00000395219.1_Missense_Mutation_p.D146H	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GTGGTCGGGTCCCAGGCAGCA	0.667000													10	11					0	0	0.008291	0	0
FFAR3	2865	broad.mit.edu	37	19	35849867	35849867	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:35849867C>T	ENST00000327809.4	+	2	276	c.75C>T	c.(73-75)ttC>ttT	p.F25F	FFAR3_ENST00000594310.1_Silent_p.F25F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	25						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TTCTCACTTTCCTGGTGGGGC	0.632000													13	33					0	0	0.004656	0	0
C20orf144	128864	broad.mit.edu	37	20	32251358	32251358	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:32251358C>T	ENST00000375222.3	+	2	209	c.147C>T	c.(145-147)ctC>ctT	p.L49L	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	49										lung(1)	1						TGCTGATTCTCCCCCTGGACA	0.721000													19	25					0	0	0.001882	0	0
GABRA6	2559	broad.mit.edu	37	5	161128527	161128527	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:161128527G>A	ENST00000523217.1	+	9	1322	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L	GABRA6_ENST00000274545.5_Silent_p.L370L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	370					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.L370L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATATCATCTGAAGAAAAGGA	0.383000										TCGA Ovarian(5;0.080)			44	17					0	0	0.003610	0	0
CDH13	1012	broad.mit.edu	37	16	83378478	83378478	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:83378478G>A	ENST00000566620.1	+	6	938	c.648G>A	c.(646-648)gaG>gaA	p.E216E	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Silent_p.E177E|CDH13_ENST00000268613.10_Silent_p.E263E	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	216	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TATTTGTGGAGACCACTGATG	0.423000													29	37					0	0	0.002096	0	0
FAM189A2	9413	broad.mit.edu	37	9	71986421	71986421	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:71986421C>T	ENST00000257515.8	+	3	439	c.19C>T	c.(19-21)Ctc>Ttc	p.L7F	FAM189A2_ENST00000455972.1_Missense_Mutation_p.L7F|FAM189A2_ENST00000303068.7_Intron	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	7						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TCAGGTAAACCTCTTTGTGCT	0.433000													32	25					0	0	0.004289	0	0
KCNA6	3742	broad.mit.edu	37	12	4920359	4920359	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:4920359C>T	ENST00000433855.1	+	1	2018	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	KCNA6_ENST00000280684.3_Silent_p.F384F	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	384						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TCTTCCTCTTCATCGGGGTCA	0.592000										HNSCC(72;0.22)			16	12					0	0	0.001523	0	0
HMCN1	83872	broad.mit.edu	37	1	185704017	185704017	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:185704017C>T	ENST00000271588.4	+	1	335	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P36S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	36					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAGGAAATTCCCGAGGGGGC	0.463000													54	59					0	0	0.003610	0	0
TECRL	253017	broad.mit.edu	37	4	65147277	65147277	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:65147277C>T	ENST00000381210.3	-	10	943	c.832_splice	c.e10-1	p.G278_splice	TECRL_ENST00000507440.1_Splice_Site_p.G278_splice	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	278					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GGCATTGTTTCCTTTTTCAAA	0.338000													9	18					0	0	0.006214	0	0
LAYN	143903	broad.mit.edu	37	11	111430975	111430975	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:111430975C>T	ENST00000436913.2	+	6	883	c.482C>T	c.(481-483)tCa>tTa	p.S161L	LAYN_ENST00000375615.3_Missense_Mutation_p.S314L|LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.S306L	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	314	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AAGAATATTTCATTCCGAGTG	0.498000													25	12					0	0	0.005443	0	0
AP1M2	10053	broad.mit.edu	37	19	10692467	10692467	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:10692467C>T	ENST00000590923.1	-	4	438	c.355G>A	c.(355-357)Gac>Aac	p.D119N	AP1M2_ENST00000250244.6_Missense_Mutation_p.D119N			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	119					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			AAGCCAAAGTCCATGAGCTCG	0.577000													12	4					0	0	0.002450	0	0
PAK7	57144	broad.mit.edu	37	20	9561102	9561102	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:9561102G>A	ENST00000378429.3	-	5	1226	c.680C>T	c.(679-681)cCt>cTt	p.P227L	PAK7_ENST00000378423.1_Missense_Mutation_p.P227L|PAK7_ENST00000353224.5_Missense_Mutation_p.P227L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	227	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)			ATAATCCAGAGGGGAGCTACT	0.502000													10	23					0	0	0.008291	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509424	71509424	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:71509424C>T	ENST00000265382.3	+	8	946	c.641C>T	c.(640-642)tCc>tTc	p.S214F	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S214F	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	214	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CGAAGAGCATCCCGTAAAGAG	0.418000													17	19					0	0	0.004007	0	0
HSD17B3	3293	broad.mit.edu	37	9	99007662	99007662	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:99007662G>A	ENST00000375263.3	-	8	618	c.571C>T	c.(571-573)Cct>Tct	p.P191S	HSD17B3_ENST00000375262.2_Missense_Mutation_p.P191S|HSD17B3_ENST00000464104.1_5'UTR	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	191					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AGAGGCCAAGGAAACAGGGCT	0.468000													28	28					0	0	0.003271	0	0
DENND5A	23258	broad.mit.edu	37	11	9202465	9202465	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:9202465A>G	ENST00000328194.3	-	6	1624	c.1304T>C	c.(1303-1305)cTg>cCg	p.L435P	DENND5A_ENST00000530044.1_Missense_Mutation_p.L435P	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	435										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGCCTCTTCAGCTTGGAGGC	0.498000													48	30					0	0	0.003610	0	0
SLC1A6	6511	broad.mit.edu	37	19	15065069	15065069	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:15065069G>A	ENST00000430939.2	-	7	1179	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	SLC1A6_ENST00000600144.1_Silent_p.F336F|SLC1A6_ENST00000221742.3_Silent_p.F414F			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	414					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CGGGCAGGACGAACCTGGTGA	0.627000													28	20					0	0	0.002836	0	0
IL2RA	3559	broad.mit.edu	37	10	6061872	6061872	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:6061872G>A	ENST00000379959.3	-	5	789	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	IL2RA_ENST00000256876.6_Missense_Mutation_p.R197C|IL2RA_ENST00000379954.1_Missense_Mutation_p.R134C	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	206					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTCTCAGGACGGCCTTCGGGG	0.597000													21	29					0	0	0.007291	0	0
CHST14	113189	broad.mit.edu	37	15	40764480	40764480	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:40764480C>T	ENST00000306243.5	+	1	1321	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	CHST14_ENST00000559991.1_Silent_p.I331I	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	356					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CTAAGTATATCCTGGACTTCT	0.622000													16	43					0	0	0.004007	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821216	5821216	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:5821216C>T	ENST00000381095.3	-	5	2130	c.1503G>A	c.(1501-1503)atG>atA	p.M501I	NLGN4X_ENST00000538097.1_Missense_Mutation_p.M501I|NLGN4X_ENST00000275857.6_Missense_Mutation_p.M501I|NLGN4X_ENST00000381093.2_Missense_Mutation_p.M521I|NLGN4X_ENST00000381092.1_Missense_Mutation_p.M501I	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	501					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGACCGATCATGGGGATGC	0.532000													35	13					0	0	0.004289	0	0
SPATA18	132671	broad.mit.edu	37	4	52945915	52945915	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:52945915G>A	ENST00000295213.4	+	9	1559	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	SPATA18_ENST00000419395.2_Silent_p.V363V	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	395					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTCAGGATGTGATCCGAGCCA	0.428000													58	106					0	0	0.003610	0	0
GALNT1	2589	broad.mit.edu	37	18	33269215	33269215	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:33269215G>A	ENST00000269195.5	+	6	1042	c.939G>A	c.(937-939)atG>atA	p.M313I	GALNT1_ENST00000537549.1_Missense_Mutation_p.M253I	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	313	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ATGCTGGAATGGATATTTGGG	0.338000													21	35					0	0	0.002299	0	0
TG	7038	broad.mit.edu	37	8	133894734	133894734	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:133894734G>A	ENST00000220616.4	+	7	806	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	TG_ENST00000377869.1_Missense_Mutation_p.E256K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	256	Thyroglobulin type-1 3.				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)		GTTACTGGATGAAATTTATGA	0.468000													46	147					0	0	0.003610	0	0
CEP68	23177	broad.mit.edu	37	2	65299154	65299154	+	Silent	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:65299154A>G	ENST00000377990.2	+	3	1127	c.924A>G	c.(922-924)ccA>ccG	p.P308P	CEP68_ENST00000260569.4_Silent_p.P308P|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Silent_p.P308P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	308					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ATACTTACCCACTGAGGCCCG	0.572000													46	35					0	0	0.003214	0	0
SLC7A11	23657	broad.mit.edu	37	4	139100404	139100404	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:139100404C>T	ENST00000280612.5	-	11	1690	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	471					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GGTTTCTTGTCCCATATAATA	0.418000													16	27					0	0	0.001882	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76073342	76073342	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:76073342C>T	ENST00000395215.3	+	0	535																											CTGCAATACTCCTTACAGCGT	0.552000													16	34					0	0	0.004007	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651530	121651530	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:121651530C>T	ENST00000393386.2	+	12	2841	c.2430C>T	c.(2428-2430)atC>atT	p.I810I	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	810					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGAATCCATCCTGTCTTCCT	0.458000													85	61					0	0	0.003610	0	0
LILRB1	10859	broad.mit.edu	37	19	55143946	55143946	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55143946G>A	ENST00000396331.1	+	7	1050	c.693G>A	c.(691-693)caG>caA	p.Q231Q	LILRB1_ENST00000396327.3_Silent_p.Q231Q|LILRB1_ENST00000434867.2_Silent_p.Q231Q|LILRB1_ENST00000427581.2_Silent_p.Q267Q|LILRB1_ENST00000396315.1_Silent_p.Q231Q|LILRB1_ENST00000418536.2_Silent_p.Q231Q|LILRB1_ENST00000324602.7_Silent_p.Q231Q|LILRB1_ENST00000396332.4_Silent_p.Q231Q|LILRB1_ENST00000396317.1_Silent_p.Q231Q|LILRB1_ENST00000396321.2_Silent_p.Q231Q|LILRB1_ENST00000448689.1_Silent_p.Q231Q	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	231	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTCAGTGCAGCCAGGTCCTA	0.547000										HNSCC(37;0.09)			39	18					0	0	0.002852	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809329	18809329	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:18809329C>T	ENST00000400664.1	+	1	1906	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	618						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGCCGCTCCCCAGTGACA	0.672000													17	17					0	0	0.001523	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660890	77660890	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:77660890G>A	ENST00000296043.6	+	5	2517	c.1564G>A	c.(1564-1566)Gga>Aga	p.G522R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	522					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAACCAGAATGGATCTGGCAG	0.537000													27	55					0	0	0.002445	0	0
PXDN	7837	broad.mit.edu	37	2	1653073	1653073	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:1653073G>A	ENST00000252804.4	-	17	2529	c.2479C>T	c.(2479-2481)Cac>Tac	p.H827Y		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	827					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCGAGGTCGTGGTCCAGGAAC	0.652000													6	19					0	0	0.001168	0	0
KCND2	3751	broad.mit.edu	37	7	119914951	119914951	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:119914951C>T	ENST00000331113.4	+	1	1230	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	89	Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGACCGTGACCCAGACATCTT	0.517000													88	70					0	0	0.003610	0	0
LAMB3	3914	broad.mit.edu	37	1	209797343	209797343	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:209797343C>T	ENST00000391911.1	-	14	2368	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	LAMB3_ENST00000356082.4_Missense_Mutation_p.R660Q|LAMB3_ENST00000367030.3_Missense_Mutation_p.R660Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	660	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGGAGAGTTCGCCTGAGAAG	0.532000													7	30					0	0	0.001984	0	0
COL4A3	1285	broad.mit.edu	37	2	228131218	228131218	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:228131218G>A	ENST00000396578.3	+	22	1563	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	467	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAGTTGATGGGCCCAAAGGTT	0.433000													4	14					0	0	0.000248	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599243	136599243	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:136599243G>A	ENST00000531224.1	-	4	1028	c.776C>T	c.(775-777)tCt>tTt	p.S259F	BCLAF1_ENST00000392348.2_Missense_Mutation_p.S257F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S257F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S257F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S259F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S259F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	259					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAATGCTGAGAAGGAGTATT	0.448000													4	37					0	0	0.000248	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149783102	149783102	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:149783102C>T	ENST00000389942.5	-	3	557	c.310G>A	c.(310-312)Gga>Aga	p.G104R	ZC3H12D_ENST00000409806.3_Missense_Mutation_p.G104R|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.G104R|ZC3H12D_ENST00000409948.1_Missense_Mutation_p.G104R|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.G104R			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	104						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCTTTATTTCCATGGCTACAA	0.438000													10	4					0	0	0.001368	0	0
ZNF684	127396	broad.mit.edu	37	1	41012620	41012620	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:41012620C>T	ENST00000372699.3	+	5	876	c.625C>T	c.(625-627)Cat>Tat	p.H209Y	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TCAGAAAATTCATAATGGAGA	0.428000													14	16					0	0	0.004007	0	0
APOB	338	broad.mit.edu	37	2	21229154	21229154	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:21229154G>A	ENST00000233242.1	-	26	10713	c.10586C>T	c.(10585-10587)tCa>tTa	p.S3529L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3529					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGCTTCACTGAAGACCGTGT	0.438000													132	420					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100685823	100685823	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100685823C>T	ENST00000306151.4	+	3	11190	c.11126C>T	c.(11125-11127)tCt>tTt	p.S3709F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3709	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGACCAGCTCTGAGGGTAGC	0.517000													27	117					0	0	0.004656	0	0
CDCA7	83879	broad.mit.edu	37	2	174229714	174229714	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:174229714G>A	ENST00000306721.3	+	6	994	c.891G>A	c.(889-891)atG>atA	p.M297I	CDCA7_ENST00000410101.3_Missense_Mutation_p.M253I|CDCA7_ENST00000347703.3_Missense_Mutation_p.M218I|CDCA7_ENST00000392567.2_Missense_Mutation_p.M218I|CDCA7_ENST00000410019.3_Missense_Mutation_p.M176I	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	218	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ATGGCTACATGAATGTGAGTT	0.522000													6	19					0	0	0.001984	0	0
KIF4A	24137	broad.mit.edu	37	X	69626151	69626151	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:69626151C>T	ENST00000374403.3	+	27	3101	c.3019C>T	c.(3019-3021)Cct>Tct	p.P1007S	KIF4A_ENST00000374388.3_Missense_Mutation_p.P1007S	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1007	Globular.|Interaction with PRC1.			QKHLPKDTLLSP -> RTLPRIPFYLQ (in Ref. 8; AAF86334).	anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GAAACATCTTCCTAAGGATAC	0.438000													18	9					0	0	0.001523	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991482	39991482	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:39991482G>A	ENST00000332312.3	-	4	919	c.727C>T	c.(727-729)Cca>Tca	p.P243S		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	243						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GGTGTTAGTGGCCCTCTGGCT	0.597000													17	53					0	0	0.007413	0	0
TUBB	203068	broad.mit.edu	37	6	30691565	30691565	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:30691565C>T	ENST00000396389.1	+	4	1265	c.672C>T	c.(670-672)ttC>ttT	p.F224F	TUBB_ENST00000396384.1_Silent_p.F170F|TUBB_ENST00000330914.3_Silent_p.F170F|TUBB_ENST00000327892.8_Silent_p.F242F|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000435534.1_Intron			P07437	TBB5_HUMAN	tubulin, beta class I	242					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GCCTCCGTTTCCCTGGCCAGC	0.567000													37	81					0	0	0.005524	0	0
TULP4	56995	broad.mit.edu	37	6	158924507	158924507	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:158924507C>T	ENST00000367097.3	+	13	5169	c.3812C>T	c.(3811-3813)cCc>cTc	p.P1271L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1271					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCCTGCCCGCCCATGCAGAAC	0.632000													26	14					0	0	0.006320	0	0
DNAH1	25981	broad.mit.edu	37	3	52428605	52428605	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:52428605C>T	ENST00000420323.2	+	67	11012	c.10751C>T	c.(10750-10752)tCc>tTc	p.S3584F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3649					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAACCTTTTCCTCCTTCTCT	0.582000													14	9					0	0	0.004007	0	0
RIMS2	9699	broad.mit.edu	37	8	104898241	104898241	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:104898241G>A	ENST00000507740.1	+	2	1074	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	RIMS2_ENST00000436393.2_Missense_Mutation_p.E250K|RIMS2_ENST00000406091.3_Missense_Mutation_p.E472K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E280K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	503					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACAAAACGGGAAAAAATGGA	0.448000										HNSCC(12;0.0054)			6	11					0	0	0.001168	0	0
AGT	183	broad.mit.edu	37	1	230841681	230841681	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:230841681G>A	ENST00000366667.4	-	3	1336	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	374					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GCTCCTACCGGGGAGATAGTT	0.607000													22	84					0	0	0.003954	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447418	110447418	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:110447418G>A	ENST00000378402.5	+	29	3444		c.e29-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTTTCACAAGAAAAAGAGCT	0.388000										HNSCC(38;0.096)			16	69					0	0	0.003163	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058541	152058541	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152058541G>A	ENST00000368806.1	-	3	1681	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	539							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CACTCTGTGTGAATGGTGACT	0.527000													46	46					0	0	0.003214	0	0
KRT4	3851	broad.mit.edu	37	12	53202523	53202523	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:53202523C>T	ENST00000551956.1	-	5	1438	c.946G>A	c.(946-948)Gag>Aag	p.E316K	KRT4_ENST00000458244.2_Missense_Mutation_p.E296K|KRT4_ENST00000293774.4_Missense_Mutation_p.E390K			B4DRS2	B4DRS2_HUMAN	keratin 4	316						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCAATCTCCTCGTACTGGGCA	0.592000													6	28					0	0	0.001984	0	0
FILIP1	27145	broad.mit.edu	37	6	76023074	76023074	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:76023074C>T	ENST00000393004.2	-	5	2695	c.2474G>A	c.(2473-2475)cGg>cAg	p.R825Q	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R825Q|FILIP1_ENST00000370020.1_Missense_Mutation_p.R726Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	825										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAAGGATTTCCGTATGAATAC	0.463000													79	141					0	0	0.003610	0	0
OR6N1	128372	broad.mit.edu	37	1	158736023	158736023	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158736023C>T	ENST00000335094.2	-	1	469	c.450G>A	c.(448-450)ttG>ttA	p.L150L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CCAAGCCTCCCAACCAACAGC	0.532000													9	6					0	0	0.004482	0	0
QSER1	79832	broad.mit.edu	37	11	32979458	32979458	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:32979458C>T	ENST00000399302.2	+	8	4743	c.4408C>T	c.(4408-4410)Cct>Tct	p.P1470S	QSER1_ENST00000527788.1_Missense_Mutation_p.P1231S	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1470										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AACTTCTGATCCTCTAGCATC	0.363000													11	5					0	0	0.001368	0	0
SCN7A	6332	broad.mit.edu	37	2	167262975	167262975	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:167262975G>A	ENST00000409855.1	-	25	4290	c.4164C>T	c.(4162-4164)ttC>ttT	p.F1388F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1388					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACATGACCAGGAAGATGAGAA	0.378000													14	36					0	0	0.001855	0	0
ADAM2	2515	broad.mit.edu	37	8	39613303	39613303	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:39613303G>A	ENST00000265708.4	-	16	1844	c.1741C>T	c.(1741-1743)Cat>Tat	p.H581Y	ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.H562Y|ADAM2_ENST00000379853.2_Missense_Mutation_p.H425Y	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	581	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGTCTGCATGATCACTGGCA	0.333000													19	27					0	0	0.007413	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962828	73962828	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:73962828C>T	ENST00000373468.1	-	3	2215	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E522K			Q5QGS0	K2022_HUMAN	KIAA2022	522					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGACACCATTCATCATCATCT	0.388000													12	1					0	0	0.001368	0	0
HDC	3067	broad.mit.edu	37	15	50546441	50546441	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:50546441C>T	ENST00000267845.3	-	6	1008	c.606G>A	c.(604-606)ttG>ttA	p.L202L	HDC_ENST00000543581.1_Silent_p.L202L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	202					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CAAGGGAAATCAAACCAGCCT	0.517000													12	30					0	0	0.001855	0	0
FOXC2	2303	broad.mit.edu	37	16	86602418	86602418	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:86602418C>T	ENST00000320354.4	+	1	1562	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	493					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCACGCAGCCCCCTACTCCTA	0.647000									Late-onset Hereditary Lymphedema				9	12					0	0	0.006214	0	0
TAF8	129685	broad.mit.edu	37	6	42044897	42044897	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:42044897G>A	ENST00000494547.1	+	9	982	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	TAF8_ENST00000465926.1_Silent_p.S204S|TAF8_ENST00000372977.3_Silent_p.S280S|TAF8_ENST00000456846.2_Silent_p.S280S|TAF8_ENST00000372982.4_Missense_Mutation_p.R321Q			Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	0					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCTCCTTGTCGGGTAGCCGGA	0.532000													44	43					0	0	0.003610	0	0
TUT1	64852	broad.mit.edu	37	11	62343574	62343574	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:62343574C>T	ENST00000476907.1	-	9	2308	c.1617G>A	c.(1615-1617)ctG>ctA	p.L539L	MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Silent_p.L577L			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	539	PAP-associated.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTGGAGATTCAGGGGGCCAA	0.627000													13	9					0	0	0.002450	0	0
TTLL8	164714	broad.mit.edu	37	22	50483733	50483733	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:50483733G>A	ENST00000266182.6	-	6	593	c.594C>T	c.(592-594)ccC>ccT	p.P198P	TTLL8_ENST00000440475.1_Silent_p.P198P					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCTGGTCCCTGGGCTTGCTTC	0.672000													16	18					0	0	0.003163	0	0
TECRL	253017	broad.mit.edu	37	4	65145874	65145874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:65145874C>T	ENST00000381210.3	-	12	1118	c.1008G>A	c.(1006-1008)tgG>tgA	p.W336*	TECRL_ENST00000507440.1_Intron	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	336					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTTTTGTGCCCACAAAGACA	0.244000													7	13					0	0	0.003080	0	0
SENP2	59343	broad.mit.edu	37	3	185341799	185341799	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:185341799G>A	ENST00000296257.5	+	15	1780	c.1540G>A	c.(1540-1542)Gat>Aat	p.D514N	SENP2_ENST00000545472.1_Missense_Mutation_p.D504N|SENP2_ENST00000427465.2_Missense_Mutation_p.D338N	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	514	Protease.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTATTTACAGGATGAAAGTAA	0.348000													98	124					0	0	0.003610	0	0
NR1H2	7376	broad.mit.edu	37	19	50882435	50882435	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:50882435C>T	ENST00000542413.1	+	11	1544	c.117C>T	c.(115-117)atC>atT	p.I39I	NR1H2_ENST00000599105.1_Silent_p.I264I|NR1H2_ENST00000253727.5_Silent_p.I308I|NR1H2_ENST00000411902.2_Silent_p.I211I|NR1H2_ENST00000598168.1_Silent_p.I278I|NR1H2_ENST00000593926.1_Silent_p.I308I			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	308					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CATCCACTATCGAGGTAATGG	0.562000													26	19					0	0	0.006320	0	0
CR1	1378	broad.mit.edu	37	1	207758068	207758068	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:207758068G>A	ENST00000367049.4	+	33	5377	c.5377G>A	c.(5377-5379)Gga>Aga	p.G1793R	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.G1343R|CR1_ENST00000367052.1_Missense_Mutation_p.G1343R|CR1_ENST00000367051.1_Missense_Mutation_p.G1343R|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.G1343R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1343	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TATTCCCTATGGAAAAGAAAT	0.468000													47	54					0	0	0.003610	0	0
COL11A2	1302	broad.mit.edu	37	6	33146700	33146700	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:33146700C>T	ENST00000341947.2	-	17	1889	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V	COL11A2_ENST00000361917.1_Silent_p.V447V|COL11A2_ENST00000374714.1_Silent_p.V528V|COL11A2_ENST00000357486.1_Silent_p.V533V|COL11A2_ENST00000374708.4_Silent_p.V468V|COL11A2_ENST00000374713.1_Silent_p.V507V|COL11A2_ENST00000395197.1_Silent_p.V494V|COL11A2_ENST00000374712.1_Silent_p.V473V	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	554	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTTACCTTCACTCCAGGAT	0.617000													8	39					0	0	0.004482	0	0
PRKCG	5582	broad.mit.edu	37	19	54395855	54395855	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:54395855C>T	ENST00000263431.3	+	7	1061	c.779C>T	c.(778-780)tCc>tTc	p.S260F	PRKCG_ENST00000542049.1_Missense_Mutation_p.S147F|PRKCG_ENST00000540413.1_Missense_Mutation_p.S260F|PRKCG_ENST00000536044.1_Missense_Mutation_p.S260F	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	260	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGGGCCATGTCCTTTGGCGTC	0.642000													8	7					0	0	0.008291	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152748928G>A	ENST00000334371.2	+	1	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000													12	13					0	0	0.001368	0	0
CERS6	253782	broad.mit.edu	37	2	169551552	169551552	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:169551552C>T	ENST00000305747.6	+	6	1187	c.600C>T	c.(598-600)atC>atT	p.I200I	CERS6_ENST00000392687.4_Silent_p.I200I	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	200	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCACTGATATCAAAAGAAAGG	0.428000													17	26					0	0	0.006122	0	0
PRDM9	56979	broad.mit.edu	37	5	23524611	23524611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:23524611G>A	ENST00000296682.3	+	10	1301	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	373					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.W373*(1)		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						GCAGCAAGTGGAAGAAAGAGC	0.463000										HNSCC(3;0.000094)			26	64					0	0	0.006320	0	0
ZHX1	11244	broad.mit.edu	37	8	124267564	124267564	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:124267564T>A	ENST00000395571.3	-	3	1240	c.623A>T	c.(622-624)gAa>gTa	p.E208V	ZHX1_ENST00000522655.1_Missense_Mutation_p.E208V|ZHX1_ENST00000297857.2_Missense_Mutation_p.E208V|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	208					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTCTTTCTCTTCAGGAACGTC	0.338000													34	45					0	0	0.002836	0	0
WNT10A	80326	broad.mit.edu	37	2	219745739	219745739	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219745739C>T	ENST00000258411.3	+	1	655	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	8					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCCTCGCCCCTGGCTGCG	0.736000													8	3					0	0	0.004482	0	0
ZNF765	91661	broad.mit.edu	37	19	53911743	53911743	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:53911743C>T	ENST00000396408.3	+	4	1052	c.935C>T	c.(934-936)tCa>tTa	p.S312L	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CATTTCAAATCAAAGCTTCAA	0.388000													9	4					0	0	0.004482	0	0
DIP2B	57609	broad.mit.edu	37	12	51138597	51138597	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:51138597C>T	ENST00000301180.5	+	38	4740	c.4706C>T	c.(4705-4707)cCc>cTc	p.P1569L		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1569						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAGTTAGACCCCATCTACGTG	0.527000													38	31					0	0	0.002522	0	0
ZFP57	346171	broad.mit.edu	37	6	29640996	29640996	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:29640996G>A	ENST00000376883.1	-	6	1243	c.832C>T	c.(832-834)Cca>Tca	p.P278S	ZFP57_ENST00000488757.1_Missense_Mutation_p.P298S|ZFP57_ENST00000376881.3_Missense_Mutation_p.P278S			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	214					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TGGGTGCCTGGAATCCTCAAA	0.562000													45	141					0	0	0.003610	0	0
PITPNM1	9600	broad.mit.edu	37	11	67262928	67262928	+	Silent	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:67262928G>T	ENST00000356404.3	-	16	2688	c.2463C>A	c.(2461-2463)acC>acA	p.T821T	PITPNM1_ENST00000436757.2_Silent_p.T820T|PITPNM1_ENST00000534749.1_Silent_p.T821T	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	821	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCTCACTGGTGGTGCTGGGGG	0.642000													7	1					1.12685e-05	1.7219e-05	0.004482	1	0
ILDR1	286676	broad.mit.edu	37	3	121707229	121707229	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:121707229C>T	ENST00000273691.3	-	7	1599	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	ILDR1_ENST00000393631.1_Silent_p.R453R|ILDR1_ENST00000462014.1_Silent_p.R510R|ILDR1_ENST00000344209.5_Silent_p.R542R	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	542						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGACCACACTCCTTCCACTAT	0.448000													7	19					0	0	0.006214	0	0
MPL	4352	broad.mit.edu	37	1	43803540	43803540	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:43803540C>T	ENST00000372470.3	+	1	63	c.21C>T	c.(19-21)ttC>ttT	p.F7F	MPL_ENST00000413998.2_Silent_p.F7F	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	7					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCCCTCTTCATGGTCACCT	0.632000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						3	6					0	0	0.004672	0	0
TPTE	7179	broad.mit.edu	37	21	10934955	10934955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:10934955G>A	ENST00000298232.7	-	14	1151	c.784C>T	c.(784-786)Cga>Tga	p.R262*	TPTE_ENST00000342420.5_Nonsense_Mutation_p.R242*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.R280*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	280	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R262*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGTAGACTCGATAGTGGTTT	0.333000													8	134					0	0	0.004482	0	0
OSMR	9180	broad.mit.edu	37	5	38925305	38925305	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:38925305G>A	ENST00000274276.3	+	15	2446		c.e15-1			NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor						cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAAATCACAGATGGTTCAGA	0.328000													23	39					0	0	0.002299	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43654270	43654270	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:43654270C>T	ENST00000374466.3	+	3	1104	c.769C>T	c.(769-771)Ctc>Ttc	p.L257F	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.L257F	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	257					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTTGGACCTCTCATGAAAGT	0.393000													9	43					0	0	0.006214	0	0
ADD2	119	broad.mit.edu	37	2	70931469	70931469	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:70931469G>A	ENST00000264436.3	-	4	750	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ADD2_ENST00000413157.2_Silent_p.F102F|ADD2_ENST00000430656.1_Silent_p.F118F|ADD2_ENST00000407644.2_Silent_p.F102F|ADD2_ENST00000355733.3_Silent_p.F102F	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	102					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAGATGTCGGGAAGACTGCGT	0.602000													18	46					0	0	0.008871	0	0
CFH	3075	broad.mit.edu	37	1	196695951	196695951	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:196695951C>T	ENST00000367429.4	+	14	2357	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	706	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGCTTTCTTCCCCTCCTTAT	0.383000													22	10					0	0	0.001882	0	0
NME3	4832	broad.mit.edu	37	16	1820659	1820659	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:1820659C>T	ENST00000219302.3	-	5	696	c.501G>A	c.(499-501)ctG>ctA	p.L167L	NME3_ENST00000563498.1_Silent_p.L83L	NM_002513.2	NP_002504.2	Q13232	NDK3_HUMAN	NME/NM23 nucleoside diphosphate kinase 3	167					apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			lung(1)	1						GCTACTCATACAGCCAGTGCC	0.682000													5	4					0	0	0.001984	0	0
OR1K1	392392	broad.mit.edu	37	9	125563215	125563215	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:125563215G>A	ENST00000277309.2	+	1	846	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGCAGAGTGGGGCCGTGTGGC	0.597000													36	28					0	0	0.005524	0	0
FAM155A	728215	broad.mit.edu	37	13	108518740	108518740	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:108518740C>T	ENST00000375915.2	-	1	343	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	69						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						tgctCCTTGTCCCGGGCCCGG	0.637000													37	14					0	0	0.004289	0	0
CCKAR	886	broad.mit.edu	37	4	26491823	26491823	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:26491823C>T	ENST00000295589.3	-	1	261	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	23					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTCATTTTCGAGCCCGAGT	0.483000													11	33					0	0	0.003163	0	0
ATP8B4	79895	broad.mit.edu	37	15	50339641	50339641	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:50339641C>T	ENST00000284509.6	-	4	249	c.108G>A	c.(106-108)tcG>tcA	p.S36S	ATP8B4_ENST00000559829.1_Silent_p.S36S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	36					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S36S(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TATTATATTTCGATGTGTGGA	0.358000													6	27					0	0	0.001168	0	0
ANKRD45	339416	broad.mit.edu	37	1	173593929	173593929	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:173593929G>A	ENST00000333279.2	-	5	787	c.727C>T	c.(727-729)Cca>Tca	p.P243S		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	259										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AACTTACATGGTGTAGTCATT	0.338000													8	34					0	0	0.008291	0	0
ABCA13	154664	broad.mit.edu	37	7	48563985	48563985	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:48563985C>T	ENST00000435803.1	+	54	14217	c.14193C>T	c.(14191-14193)ttC>ttT	p.F4731F	ABCA13_ENST00000544596.1_Silent_p.F461F	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4731	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACGCTTTTTCCAGAATATTA	0.353000													7	29					0	0	0.006214	0	0
ENPP6	133121	broad.mit.edu	37	4	185038182	185038182	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:185038182C>T	ENST00000296741.2	-	5	823	c.682G>A	c.(682-684)Ggc>Agc	p.G228S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	228					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCCTGCAGGCCCCGCTCCTGT	0.488000													15	31					0	0	0.004990	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299846	107299846	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:107299846G>A	ENST00000282251.5	-	8	1139	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	CWF19L2_ENST00000433523.1_Missense_Mutation_p.P371L	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	371							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATCATCAGAGGGTCTCAAGAA	0.408000													27	16					0	0	0.006320	0	0
GRID2	2895	broad.mit.edu	37	4	94031949	94031949	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:94031949G>A	ENST00000282020.4	+	4	838	c.580G>A	c.(580-582)Gat>Aat	p.D194N	GRID2_ENST00000510992.1_Missense_Mutation_p.D99N|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	194					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GCAGGGAATGGATGTTGCACT	0.393000													48	76					0	0	0.003610	0	0
MROH5	389690	broad.mit.edu	37	8	142486223	142486223	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:142486223C>T	ENST00000430863.1	-	0	1550					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		ACTTCCTTTCCAAGTCTATGG	0.612000													3	1					0	0	0.004672	0	0
PDE1C	5137	broad.mit.edu	37	7	31890268	31890268	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:31890268G>A	ENST00000396184.3	-	9	1042	c.838C>T	c.(838-840)Cac>Tac	p.H280Y	PDE1C_ENST00000396191.1_Missense_Mutation_p.H280Y|PDE1C_ENST00000396182.2_Missense_Mutation_p.H280Y|PDE1C_ENST00000321453.7_Missense_Mutation_p.H280Y|PDE1C_ENST00000396193.1_Missense_Mutation_p.H340Y	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	280	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTCTGAATGTGGAAATTGTTG	0.448000													36	32					0	0	0.002222	0	0
MICU1	10367	broad.mit.edu	37	10	74128021	74128021	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:74128021G>A	ENST00000398761.4	-	14	1501	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	MICU1_ENST00000418483.2_Missense_Mutation_p.R257C|MICU1_ENST00000401998.3_Missense_Mutation_p.R455C|MICU1_ENST00000361114.5_Missense_Mutation_p.R455C|MICU1_ENST00000398763.4_Missense_Mutation_p.R257C			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	455					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										TGCATGAGGCGAGTGAAACCC	0.527000													10	17					0	0	0.000978	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95108170	95108170	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:95108170C>T	ENST00000469935.1	+	0	775					NR_015340.1																						AGGGGAAGCTCGGGGCCTGGG	0.587000													44	47					0	0	0.003610	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908344	48908344	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:48908344C>T	ENST00000263269.3	+	3	907	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	273						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	ACGTCTGGTTCATGGTGGGGC	0.716000													7	4					0	0	0.004482	0	0
OR5H15	403274	broad.mit.edu	37	3	97888212	97888212	+	Silent	SNP	C	C	T	rs62266806		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:97888212C>T	ENST00000356526.2	+	1	669	c.669C>T	c.(667-669)ttC>ttT	p.F223F		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTGTTCTCTTCACAGTCTTAG	0.363000													7	26					0	0	0.001984	0	0
WDR16	146845	broad.mit.edu	37	17	9546490	9546490	+	Missense_Mutation	SNP	G	G	A	rs138429217		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:9546490G>A	ENST00000352665.5	+	14	1907	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	WDR16_ENST00000396219.3_Missense_Mutation_p.R545Q|WDR16_ENST00000299764.5_Missense_Mutation_p.R623Q|RP11-55L4.2_ENST00000584676.1_RNA	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	613						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCATTTTGCGATGGAAGTAC	0.478000													32	27					0	0	0.003271	0	0
ABCG8	64241	broad.mit.edu	37	2	44079492	44079492	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:44079492G>A	ENST00000272286.2	+	5	651		c.e5-1			NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGCCCACAGGTGGAGGACG	0.657000													48	78					0	0	0.003610	0	0
TESPA1	9840	broad.mit.edu	37	12	55357661	55357661	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:55357661C>T	ENST00000524622.1	-	6	767	c.106G>A	c.(106-108)Gat>Aat	p.D36N	TESPA1_ENST00000531122.1_Missense_Mutation_p.D36N|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Missense_Mutation_p.D36N|TESPA1_ENST00000449076.1_Missense_Mutation_p.D174N|TESPA1_ENST00000316577.8_Missense_Mutation_p.D174N	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	174																	TCTTTGTGATCCTCTTGGCCA	0.498000													21	98					0	0	0.001523	0	0
AJAP1	55966	broad.mit.edu	37	1	4772338	4772338	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:4772338C>T	ENST00000378191.4	+	2	789	c.408C>T	c.(406-408)tcC>tcT	p.S136S	AJAP1_ENST00000378190.3_Silent_p.S136S	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	136					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGTCCTCGTCCTCGTCCTCCG	0.721000													5	5					0	0	0.001168	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555961	155555961	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:155555961C>T	ENST00000295101.2	+	1	1151	c.674C>T	c.(673-675)tCc>tTc	p.S225F	KCNJ3_ENST00000544049.1_Missense_Mutation_p.S225F	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	225					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CACATGGTCTCCGCGCAGATT	0.607000													7	5					0	0	0.003080	0	0
NEFM	4741	broad.mit.edu	37	8	24772138	24772138	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:24772138G>A	ENST00000221166.5	+	1	1614	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.E278K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.E278K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	278	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTCCCAGCTCGAAAGCCACTC	0.592000													9	16					0	0	0.006214	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55021697	55021697	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:55021697G>A	ENST00000324000.3	+	2	2278	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	82					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TCTCACCCAGGAACTCCAAGA	0.448000													20	29					0	0	0.008871	0	0
INHBC	3626	broad.mit.edu	37	12	57843354	57843354	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:57843354G>A	ENST00000309668.2	+	2	735	c.608G>A	c.(607-609)gGc>gAc	p.G203D	INHBC_ENST00000550133.1_Missense_Mutation_p.G203D	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	203					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GTACTTGAAGGCCAGGTAGCC	0.622000													23	22					0	0	0.001882	0	0
MYO15A	51168	broad.mit.edu	37	17	18055172	18055172	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:18055172G>A	ENST00000205890.5	+	41	8138	c.7800G>A	c.(7798-7800)ggG>ggA	p.G2600G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2600	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGATGGCGGGAAAGTGTTCA	0.567000													5	1					0	0	0.001984	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334242	77334242	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:77334242C>T	ENST00000282849.5	-	17	3010	c.2592G>A	c.(2590-2592)atG>atA	p.M864I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	864	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGTTCCATTCATGACCTTGG	0.453000													11	25					0	0	0.001855	0	0
PTPRH	5794	broad.mit.edu	37	19	55716733	55716733	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55716733C>T	ENST00000376350.3	-	4	602	c.580G>A	c.(580-582)Gga>Aga	p.G194R	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	194	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTTGATTCCATTCTTTCCC	0.522000													31	26					0	0	0.002836	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550939	169550939	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:169550939G>A	ENST00000340806.6	+	4	1498	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	500										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATACCTCAAGGAAAACAGAAA	0.408000													10	12					0	0	0.006214	0	0
NDST4	64579	broad.mit.edu	37	4	115997728	115997728	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:115997728C>T	ENST00000264363.2	-	2	1143	c.465G>A	c.(463-465)gtG>gtA	p.V155V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	155	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CACTGTATTCCACACAGTATT	0.323000													19	43					0	0	0.002780	0	0
MXRA5	25878	broad.mit.edu	37	X	3242365	3242365	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:3242365G>A	ENST00000217939.6	-	5	1515	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	454						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGTAGTAGGAAAGTAGCAC	0.498000													73	47					0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	40743863	40743863	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:40743863G>A	ENST00000373198.3	-	23	3376	c.3141C>T	c.(3139-3141)gtC>gtT	p.V1047V	PTPRT_ENST00000373187.1_Silent_p.V1025V|PTPRT_ENST00000373190.1_Silent_p.V1024V|PTPRT_ENST00000373193.3_Silent_p.V1028V|PTPRT_ENST00000373201.1_Silent_p.V1015V|PTPRT_ENST00000373184.1_Silent_p.V1035V|PTPRT_ENST00000356100.2_Silent_p.V1034V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1025	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGTGCGTATGACGTATTCTG	0.522000													48	58					0	0	0.003610	0	0
DNAH2	146754	broad.mit.edu	37	17	7680857	7680857	+	Missense_Mutation	SNP	C	C	T	rs140523857		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:7680857C>T	ENST00000572933.1	+	33	6612	c.5152C>T	c.(5152-5154)Cat>Tat	p.H1718Y	DNAH2_ENST00000389173.2_Missense_Mutation_p.H1718Y			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1718	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.H1718Y(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATAGAAATTCATGCCCGGGA	0.488000													155	93					0	0	0.003610	0	0
AMBN	258	broad.mit.edu	37	4	71465260	71465260	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:71465260G>A	ENST00000322937.6	+	5	294	c.191G>A	c.(190-192)aGa>aAa	p.R64K	AMBN_ENST00000449493.2_Missense_Mutation_p.R64K	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	64					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TAGTATTCTAGATACGGCTTT	0.328000													9	20					0	0	0.008291	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060399	144060399	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:144060399G>A	ENST00000056217.5	+	2	811	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	213					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTGCCACCTGAGGAGCTGCA	0.557000													30	163					0	0	0.002096	0	0
IARS2	55699	broad.mit.edu	37	1	220315224	220315224	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:220315224C>T	ENST00000366922.1	+	20	2609	c.2278C>T	c.(2278-2280)Cgt>Tgt	p.R760C	IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000302637.5_Missense_Mutation_p.R832C			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	832					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAATAGTTCGTTCTTTTGC	0.378000													20	51					0	0	0.008871	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960801	73960801	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:73960801C>T	ENST00000373468.1	-	3	4242	c.3591G>A	c.(3589-3591)agG>agA	p.R1197R	KIAA2022_ENST00000055682.5_Silent_p.R1197R			Q5QGS0	K2022_HUMAN	KIAA2022	1197					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGATTTTTTCCTGGTGTTTT	0.428000													34	19					0	0	0.002445	0	0
ZNF354C	30832	broad.mit.edu	37	5	178505774	178505774	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:178505774C>T	ENST00000315475.6	+	5	647	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AAGAAAGAATCCATTAAGGAT	0.373000													27	10					0	0	0.006320	0	0
TMCO3	55002	broad.mit.edu	37	13	114193764	114193764	+	Silent	SNP	C	C	T	rs145263082	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:114193764C>T	ENST00000434316.2	+	10	1991	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	544						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCGAGGAGATCGCCACCTCCA	0.557000													13	14					0	0	0.001855	0	0
VIL1	7429	broad.mit.edu	37	2	219289047	219289047	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219289047C>T	ENST00000248444.5	+	3	211	c.123C>T	c.(121-123)ttC>ttT	p.F41F	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.F41F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	41	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCTTCTTCGATGGTGACT	0.592000													25	79					0	0	0.005443	0	0
UBIAD1	29914	broad.mit.edu	37	1	11346060	11346060	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11346060G>A	ENST00000376810.5	+	2	1215	c.889G>A	c.(889-891)Gag>Aag	p.E297K	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	297					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CTTCTCCCTTGAGAGACAGTT	0.557000													23	86					0	0	0.002780	0	0
OR6F1	343169	broad.mit.edu	37	1	247875901	247875901	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:247875901G>A	ENST00000302084.2	-	1	204	c.157C>T	c.(157-159)Cat>Tat	p.H53Y	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H53N(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGCAACTGATGGGAGGTGCTC	0.468000													18	53					0	0	0.004990	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123471203	123471203	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:123471203G>A	ENST00000529750.1	+	7	895	c.568G>A	c.(568-570)Gat>Aat	p.D190N	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.D190N|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.D197N	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	190						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGGGGCCCGGGATAGGACATA	0.423000													9	7					0	0	0.006214	0	0
MC4R	4160	broad.mit.edu	37	18	58038642	58038642	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:58038642T>C	ENST00000299766.3	-	1	1359	c.941A>G	c.(940-942)aAa>aGa	p.K314R		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	314					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GATGATCTCTTTGAAGGTTTT	0.413000													13	49					0	0	0.001855	0	0
IL7R	3575	broad.mit.edu	37	5	35876102	35876102	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:35876102C>T	ENST00000303115.3	+	8	1023	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	298					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATGTGAGTTTCAATCCTGAAA	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						11	26					0	0	0.001855	0	0
LILRB5	10990	broad.mit.edu	37	19	54754699	54754699	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:54754699C>T	ENST00000316219.5	-	13	1831	c.1724G>A	c.(1723-1725)aGg>aAg	p.R575K	LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000345866.6_Missense_Mutation_p.R476K|LILRB5_ENST00000449561.2_Missense_Mutation_p.R576K	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	575					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGGTTCCCTTTCCTGGGA	0.607000													35	12					0	0	0.003755	0	0
TRIM15	89870	broad.mit.edu	37	6	30136161	30136161	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:30136161C>T	ENST00000376694.4	+	3	1031	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	188					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATGTCTCCTGCTGGCCAGGCT	0.532000													19	45					0	0	0.002780	0	0
OR4C3	256144	broad.mit.edu	37	11	48347047	48347047	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:48347047C>T	ENST00000319856.4	+	1	576	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGGTTCAGCTCCTCCTGGTCC	0.527000													13	29					0	0	0.001855	0	0
ADAM2	2515	broad.mit.edu	37	8	39626974	39626974	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:39626974C>T	ENST00000265708.4	-	12	1252	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	ADAM2_ENST00000521880.1_Silent_p.Q383Q|ADAM2_ENST00000347580.4_Silent_p.Q364Q|ADAM2_ENST00000379853.2_Silent_p.Q257Q	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	383					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACACTGCTTGCTGTTTGAAAA	0.443000													11	36					0	0	0.001368	0	0
ETV7	51513	broad.mit.edu	37	6	36336837	36336837	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:36336837G>A	ENST00000373738.1	-	5	1356	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	ETV7_ENST00000373737.4_Silent_p.L149L|ETV7_ENST00000339796.5_Silent_p.L226L|ETV7_ENST00000538992.1_Silent_p.L75L|ETV7_ENST00000340181.4_Silent_p.L226L	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	226					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TAATCCCACAGCAGGCGGCAG	0.537000													17	51					0	0	0.006122	0	0
PSD	5662	broad.mit.edu	37	10	104175860	104175860	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:104175860G>A	ENST00000020673.5	-	3	1197	c.671C>T	c.(670-672)tCc>tTc	p.S224F	PSD_ENST00000406432.1_Missense_Mutation_p.S224F	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	224					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTCCCGGGGGGAGGACCAGGT	0.542000													5	4					0	0	0.001984	0	0
SPAST	6683	broad.mit.edu	37	2	32341264	32341264	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:32341264C>T	ENST00000315285.3	+	7	1206	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	SPAST_ENST00000345662.1_Missense_Mutation_p.P329S	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	361	Sufficient for microtubule severing.		P -> L (in SPG4).		cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGTTATTCTTCCTTCTCTGAG	0.333000													20	34					0	0	0.001523	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102991455	102991455	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:102991455T>A	ENST00000375735.2	+	8	1316	c.1172T>A	c.(1171-1173)aTt>aAt	p.I391N	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.I391N|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I391N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	391	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATGAAAAGATTATTGCACCT	0.313000													13	3					0	0	0.002450	0	0
AHNAK	79026	broad.mit.edu	37	11	62296060	62296060	+	Silent	SNP	C	C	A	rs601430		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:62296060C>A	ENST00000378024.4	-	5	6103	c.5829G>T	c.(5827-5829)tcG>tcT	p.S1943S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1943					nervous system development	nucleus	protein binding	p.S1943S(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTTGGCACCGACACATCCA	0.512000													6	155					0.00198382	0.00302214	0.001984	1	0
STPG2	285555	broad.mit.edu	37	4	99064228	99064228	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:99064228G>A	ENST00000295268.3	-	1	163	c.74C>T	c.(73-75)tCc>tTc	p.S25F		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TACCTGGTAGGATCCAGGACC	0.597000											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10					0	0	0.006214	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18793432	18793432	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:18793432C>T	ENST00000433979.1	+	31	4245	c.4129C>T	c.(4129-4131)Cgt>Tgt	p.R1377C	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1418C|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R1377C	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1377	C2.			R -> L (in Ref. 1; CAA03853).	cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGTGAAGTTCGTAGGAGGAA	0.368000													14	1					0	0	0.002450	0	0
ZPBP	11055	broad.mit.edu	37	7	50121476	50121476	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:50121476G>A	ENST00000046087.2	-	3	297	c.228C>T	c.(226-228)ctC>ctT	p.L76L	ZPBP_ENST00000419417.1_Silent_p.L76L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	76					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCTTTTGATGGAGCATGACAT	0.358000													12	21					0	0	0.002450	0	0
MYO18B	84700	broad.mit.edu	37	22	26242217	26242217	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:26242217G>A	ENST00000335473.7	+	19	3769	c.3519G>A	c.(3517-3519)agG>agA	p.R1173R	MYO18B_ENST00000407587.2_Silent_p.R1174R|MYO18B_ENST00000536101.1_Silent_p.R1173R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1173	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGTGAGGAGGAAAGCCCCGT	0.657000													18	25					0	0	0.002299	0	0
ZNF721	170960	broad.mit.edu	37	4	437781	437781	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:437781G>A	ENST00000338977.5	-	2	487	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.H159Y|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTCCAGTATGAATTTTCTTG	0.393000													43	76					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179428764	179428764	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179428764C>T	ENST00000589042.1	-	326	82319	c.82095G>A	c.(82093-82095)aaG>aaA	p.K27365K	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.K25724K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.K18300K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.K18425K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.K18492K|TTN_ENST00000342992.6_Silent_p.K24797K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25724	Fibronectin type-III 99.						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)			TGTCAAGTACCTTTACAGTGA	0.458000													18	73					0	0	0.006122	0	0
DHX36	170506	broad.mit.edu	37	3	154017629	154017629	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:154017629G>A	ENST00000496811.1	-	12	1627	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	DHX36_ENST00000308361.6_Missense_Mutation_p.S516L|DHX36_ENST00000329463.5_Missense_Mutation_p.S516L|DHX36_ENST00000544526.1_Missense_Mutation_p.S516L	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	516	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CATAGTACCTGATTTAAACAT	0.333000													33	28					0	0	0.005524	0	0
NPHS1	4868	broad.mit.edu	37	19	36342518	36342518	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:36342518C>T	ENST00000378910.5	-	2	114	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E39K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	39	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCAGGTTTTCAGGCAGGGCC	0.657000													11	6					0	0	0.001368	0	0
TJP1	7082	broad.mit.edu	37	15	30026535	30026535	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:30026535G>A	ENST00000346128.6	-	12	1933	c.1459C>T	c.(1459-1461)Ctg>Ttg	p.L487L	TJP1_ENST00000545208.2_Silent_p.L487L|TJP1_ENST00000356107.6_Silent_p.L487L|TJP1_ENST00000400011.2_Silent_p.L491L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	487	PDZ 3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGGTCAAGCAGGAAAAGGACG	0.363000													12	30					0	0	0.003163	0	0
SF3B1	23451	broad.mit.edu	37	2	198257176	198257176	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:198257176G>A	ENST00000335508.5	-	25	3857	c.3766C>T	c.(3766-3768)Cac>Tac	p.H1256Y		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1256					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGGCTGGGTGAAACAGACCC	0.328000			Mis		myelodysplastic syndrome								8	10					0	0	0.003080	0	0
EDC4	23644	broad.mit.edu	37	16	67912701	67912701	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:67912701C>T	ENST00000358933.5	+	11	1485	c.1246C>T	c.(1246-1248)Ctc>Ttc	p.L416F	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	416					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTGCTTGGACCTCTCAGCAGA	0.547000													42	128					0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	40770570	40770570	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:40770570C>T	ENST00000373198.3	-	19	3056	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R	PTPRT_ENST00000373187.1_Missense_Mutation_p.G919R|PTPRT_ENST00000373190.1_Missense_Mutation_p.G918R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G922R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G909R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G909R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G928R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	919	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGATGTTCCCATATCGATTC	0.473000													32	196					0	0	0.002836	0	0
FAM83C	128876	broad.mit.edu	37	20	33875403	33875403	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:33875403G>A	ENST00000374408.3	-	4	1275	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	393										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGCGATGTAGGGAGGGCTGGC	0.637000													6	22					0	0	0.001168	0	0
SEMA3E	9723	broad.mit.edu	37	7	83026040	83026040	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:83026040C>T	ENST00000307792.3	-	12	1839	c.1372G>A	c.(1372-1374)Gga>Aga	p.G458R	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G398R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	458	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGCACAATTCCATTATCTGTA	0.338000													16	10					0	0	0.006122	0	0
HEATR4	399671	broad.mit.edu	37	14	73989442	73989442	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:73989442C>T	ENST00000553558.1	-	3	736	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	HEATR4_ENST00000560393.1_Missense_Mutation_p.E92K|HEATR4_ENST00000334988.2_Missense_Mutation_p.E139K	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCAGAGCTTTCTGTCTTCACA	0.557000													18	15					0	0	0.001882	0	0
OR2T12	127064	broad.mit.edu	37	1	248458168	248458168	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248458168G>T	ENST00000317996.1	-	1	712	c.713C>A	c.(712-714)aCc>aAc	p.T238N		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			TGAAGAGCAGGTGGCAAAGGC	0.522000													7	70					0.00448238	0.00681805	0.004482	1	0
VPS18	57617	broad.mit.edu	37	15	41191361	41191361	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:41191361C>T	ENST00000220509.5	+	4	684	c.345C>T	c.(343-345)gcC>gcT	p.A115A	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	115					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGCTGATTGCCCTGAGCAGCA	0.627000													10	23					0	0	0.008291	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057217	40057217	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:40057217C>T	ENST00000336649.4	+	19	2821	c.2821C>T	c.(2821-2823)Cga>Tga	p.R941*	CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R900*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.R900*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R900*|CACNA1I_ENST00000402142.3_Nonsense_Mutation_p.R935*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.R935*			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	935					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCTGCCCCCCGACTCTCACT	0.657000													9	26					0	0	0.006214	0	0
ALS2	57679	broad.mit.edu	37	2	202593804	202593804	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:202593804A>G	ENST00000264276.6	-	14	3055	c.2683T>C	c.(2683-2685)Ttc>Ctc	p.F895L	ALS2_ENST00000457679.2_Missense_Mutation_p.F207L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	895					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTCTTCCAGAAGCCCAGTGTG	0.433000													62	70					0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8341948	8341948	+	Silent	SNP	G	G	A	rs138863975		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:8341948G>A	ENST00000381196.4	-	37	5235	c.4692C>T	c.(4690-4692)atC>atT	p.I1564I	PTPRD_ENST00000360074.4_Silent_p.I1551I|PTPRD_ENST00000537002.1_Silent_p.I1154I|PTPRD_ENST00000358503.5_Silent_p.I1542I|PTPRD_ENST00000540109.1_Silent_p.I1564I|PTPRD_ENST00000486161.1_Silent_p.I1157I|PTPRD_ENST00000356435.5_Silent_p.I1564I|PTPRD_ENST00000355233.5_Silent_p.I1158I|PTPRD_ENST00000397606.3_Silent_p.I1157I|PTPRD_ENST00000397611.3_Silent_p.I1154I|PTPRD_ENST00000397617.3_Silent_p.I1157I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1564	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I1564I(1)|p.I1035I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATCTATGACGATGAAGCAAC	0.353000										TSP Lung(15;0.13)			9	13					0	0	0.004482	0	0
JARID2	3720	broad.mit.edu	37	6	15497234	15497234	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:15497234C>T	ENST00000341776.2	+	7	2022	c.1778C>T	c.(1777-1779)cCg>cTg	p.P593L	JARID2_ENST00000541660.1_Missense_Mutation_p.P555L|JARID2_ENST00000397311.3_Missense_Mutation_p.P421L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	593	JmjN.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATCCCCCCTCCGGACTGGCGG	0.637000													12	20					0	0	0.004007	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337146	162337146	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:162337146G>A	ENST00000493151.1	+	2	2892	c.525G>A	c.(523-525)acG>acA	p.T175T	NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000530878.1_Silent_p.T465T|NOS1AP_ENST00000361897.5_Silent_p.T470T	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	470	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGTCCAACACGGACGAGAGCG	0.667000													8	8					0	0	0.003080	0	0
KCNB1	3745	broad.mit.edu	37	20	47989816	47989816	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:47989816C>T	ENST00000371741.4	-	2	2447	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	761					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCTCATCATCTGTGTCTGCG	0.567000													64	229					0	0	0.003610	0	0
C4orf50	389197	broad.mit.edu	37	4	5961349	5961349	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:5961349G>A	ENST00000531445.1	-	7	2052	c.2006C>T	c.(2005-2007)cCt>cTt	p.P669L	C4orf50_ENST00000324058.5_Missense_Mutation_p.P195L			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	195										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CAAGGACAGAGGGAGCTGCAG	0.517000													8	20					0	0	0.004482	0	0
KYNU	8942	broad.mit.edu	37	2	143713832	143713832	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:143713832C>T	ENST00000264170.4	+	6	754	c.496C>T	c.(496-498)Cct>Tct	p.P166S	KYNU_ENST00000375773.2_Missense_Mutation_p.P166S|KYNU_ENST00000409512.1_Missense_Mutation_p.P166S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	166	Pyridoxal phosphate binding.				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CAAAGCCTTCCCTTCTGATCA	0.338000													5	23					0	0	0.001168	0	0
SPEG	10290	broad.mit.edu	37	2	220347557	220347557	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:220347557T>G	ENST00000312358.7	+	29	5749	c.5617T>G	c.(5617-5619)Tcc>Gcc	p.S1873A	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1873					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTATTCCTCTCCCGGCGGAG	0.587000													3	26					0	0	0.000248	0	0
ASB10	136371	broad.mit.edu	37	7	150873258	150873258	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150873258G>A	ENST00000422024.1	-	5	1605	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	ASB10_ENST00000377867.3_Missense_Mutation_p.P434S|ASB10_ENST00000275838.1_Missense_Mutation_p.P411S|ASB10_ENST00000420175.2_Missense_Mutation_p.P449S|ASB10_ENST00000434669.1_Missense_Mutation_p.P456S	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	449					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGCAGGGGGAGGCGGGGC	0.677000													11	37					0	0	0.002450	0	0
ACAN	176	broad.mit.edu	37	15	89382265	89382265	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:89382265G>A	ENST00000439576.2	+	3	816	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	ACAN_ENST00000558207.1_Missense_Mutation_p.V148I|ACAN_ENST00000561243.1_Missense_Mutation_p.V148I|ACAN_ENST00000559004.1_Missense_Mutation_p.V148I|ACAN_ENST00000352105.7_Missense_Mutation_p.V148I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	148					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACCCTGGAAGTCGTGGTGAA	0.617000													8	46					0	0	0.004482	0	0
NRP1	8829	broad.mit.edu	37	10	33559618	33559618	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:33559618C>T	ENST00000265371.4	-	4	940	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	NRP1_ENST00000395995.1_Missense_Mutation_p.E139K|NRP1_ENST00000374816.3_Missense_Mutation_p.E139K|NRP1_ENST00000374821.5_Missense_Mutation_p.E139K|NRP1_ENST00000374822.4_Missense_Mutation_p.E139K|NRP1_ENST00000374823.5_Missense_Mutation_p.E139K|NRP1_ENST00000374867.2_Missense_Mutation_p.E139K			O14786	NRP1_HUMAN	neuropilin 1	139	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGAAAATTTCATAACGTATG	0.433000													25	27					0	0	0.001786	0	0
CLCN2	1181	broad.mit.edu	37	3	184069834	184069834	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:184069834G>A	ENST00000265593.4	-	22	2553	c.2382C>T	c.(2380-2382)ccC>ccT	p.P794P	CLCN2_ENST00000457512.1_Silent_p.P794P|CLCN2_ENST00000434054.2_Silent_p.P750P|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Silent_p.P777P	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	794	CBS 2.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CCAGCTGGAAGGGAGCAGGAT	0.567000													40	109					0	0	0.002852	0	0
DLG2	1740	broad.mit.edu	37	11	84245709	84245709	+	Silent	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:84245709T>C	ENST00000398309.2	-	2	578	c.108A>G	c.(106-108)gtA>gtG	p.V36V	DLG2_ENST00000524982.1_Silent_p.V36V|DLG2_ENST00000532653.1_Silent_p.V36V|DLG2_ENST00000376104.2_Silent_p.V141V|DLG2_ENST00000543673.1_Silent_p.V141V	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	36						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGGGCCTCTTACTTCGTGGG	0.408000													42	22					0	0	0.006999	0	0
POTEG	404785	broad.mit.edu	37	14	19573136	19573136	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:19573136G>A	ENST00000409832.3	+	8	1286	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	412										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TAAGGGTGGTGATAGAAAGGT	0.323000													5	74					0	0	0.000978	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478410	14478410	+	RNA	SNP	C	C	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:14478410C>G	ENST00000581457.1	-	0	1498					NR_024076.1																						ACGTACGGCTCTTTGGAGGCG	0.448000													3	3					0	0	0.000602	0	0
CCDC147	159686	broad.mit.edu	37	10	106118186	106118186	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:106118186G>A	ENST00000369704.3	+	2	231	c.97G>A	c.(97-99)Gac>Aac	p.D33N	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	33										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTTTCTGGAGACAAAAGTTT	0.378000													13	13					0	0	0.001368	0	0
MTOR	2475	broad.mit.edu	37	1	11199666	11199666	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11199666G>A	ENST00000361445.4	-	35	4998	c.4922C>T	c.(4921-4923)tCc>tTc	p.S1641F	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1641	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GACCACAAGGGACCGCACCAT	0.502000													42	63					0	0	0.002522	0	0
SYT1	6857	broad.mit.edu	37	12	79837866	79837866	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:79837866G>A	ENST00000261205.4	+	10	1599	c.942G>A	c.(940-942)aaG>aaA	p.K314K	RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000457153.2_Silent_p.K311K|SYT1_ENST00000393240.3_Silent_p.K314K|SYT1_ENST00000552744.1_Silent_p.K314K	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	314	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTTATGTGAAGATTCATCTGA	0.333000													8	21					0	0	0.006214	0	0
OR10K2	391107	broad.mit.edu	37	1	158390631	158390631	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158390631A>C	ENST00000314902.2	-	1	25	c.26T>G	c.(25-27)gTg>gGg	p.V9G		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GACCTCTCTCACCACAGTCTC	0.502000													6	25					0	0	0.001168	0	0
ICA1	3382	broad.mit.edu	37	7	8167558	8167558	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:8167558G>T	ENST00000402384.3	-	13	1541	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L	ICA1_ENST00000422063.2_Missense_Mutation_p.F454L|ICA1_ENST00000265577.7_Missense_Mutation_p.F424L|ICA1_ENST00000401396.1_Missense_Mutation_p.F413L|ICA1_ENST00000396675.3_Missense_Mutation_p.F425L|ICA1_ENST00000406470.2_Missense_Mutation_p.F425L			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	425					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GCGAAGGAAGGAAACCTGAGC	0.522000													33	178					2.19489e-29	3.3885e-29	0.006230	1	0
ECE2	9718	broad.mit.edu	37	3	184009212	184009212	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:184009212C>T	ENST00000402825.3	+	18	2460	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	ECE2_ENST00000357474.5_Silent_p.F748F|ECE2_ENST00000359140.4_Silent_p.F673F|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.F702F	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	820	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.F673F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCTCTTCTTCGTGGGATTTG	0.592000													21	32					0	0	0.002299	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457746	45457746	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:45457746G>A	ENST00000548424.1	+	0	448																											CTGTTGGCCTGGGGCAGTTCA	0.458000													12	36					0	0	0.004007	0	0
SLC1A7	6512	broad.mit.edu	37	1	53600042	53600042	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:53600042G>A	ENST00000371494.4	-	2	322	c.195C>T	c.(193-195)atC>atT	p.I65I	SLC1A7_ENST00000371491.4_Silent_p.I65I	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	65						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCAGTGGCAGGATCATCATCT	0.532000													10	11					0	0	0.000978	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135757223	135757223	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:135757223G>A	ENST00000250617.6	-	19	3183	c.1978C>T	c.(1978-1980)Ctt>Ttt	p.L660F	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L533F|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L506F|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L506F	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	660					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATCACTTTAAGGATTTGAGCA	0.423000													23	19					0	0	0.004656	0	0
MGAM	8972	broad.mit.edu	37	7	141799479	141799479	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:141799479C>T	ENST00000475668.2	+	67	7870	c.7816C>T	c.(7816-7818)Cat>Tat	p.H2606Y	MGAM_ENST00000549489.2_Missense_Mutation_p.H1710Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1710					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATTAATCTTCATGTCCGTGG	0.498000													10	41					0	0	0.006214	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724071	7724071	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:7724071C>T	ENST00000303635.7	+	9	1671	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	CAMTA1_ENST00000439411.2_Silent_p.F488F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGACTGTTTCCTTAATAACC	0.607000			T	WWTR1	epitheliod hemangioendothelioma								20	48					0	0	0.001523	0	0
IDO1	3620	broad.mit.edu	37	8	39781029	39781029	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:39781029G>A	ENST00000518237.1	+	7	1218	c.579G>A	c.(577-579)cgG>cgA	p.R193R	IDO1_ENST00000522495.1_Silent_p.R193R|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	193					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TGCAAGAACGGGACACTTTGC	0.373000													13	14					0	0	0.003163	0	0
CEP89	84902	broad.mit.edu	37	19	33417177	33417177	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:33417177C>T	ENST00000305768.4	-	11	1171	c.1083G>A	c.(1081-1083)ttG>ttA	p.L361L		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	361						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ACTTTATATCCAACTGAAGAT	0.368000													71	51					0	0	0.003610	0	0
CLCN5	1184	broad.mit.edu	37	X	49855127	49855127	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:49855127G>A	ENST00000376088.3	+	13	2740	c.2099G>A	c.(2098-2100)aGa>aAa	p.R700K	CLCN5_ENST00000376108.3_Missense_Mutation_p.R630K|CLCN5_ENST00000307367.2_Missense_Mutation_p.R630K|CLCN5_ENST00000376091.3_Missense_Mutation_p.R700K	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	630	CBS 2.				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GAGTCCCAAAGACTTGTGGGC	0.453000													7	8					0	0	0.003080	0	0
LY9	4063	broad.mit.edu	37	1	160788033	160788033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:160788033G>A	ENST00000263285.5	+	6	1398	c.1368G>A	c.(1366-1368)tgG>tgA	p.W456*	LY9_ENST00000368041.2_Nonsense_Mutation_p.W326*|LY9_ENST00000368040.1_Nonsense_Mutation_p.W108*|LY9_ENST00000341032.4_Nonsense_Mutation_p.W366*|LY9_ENST00000368035.1_Nonsense_Mutation_p.W108*	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	456					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAAAGCTTTGGATTGGGTTGT	0.438000													10	44					0	0	0.008291	0	0
PCDH15	65217	broad.mit.edu	37	10	55582720	55582720	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:55582720G>A	ENST00000361849.3	-	34	5166	c.4772C>T	c.(4771-4773)cCa>cTa	p.P1591L	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1566L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1549L|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1589L|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1520L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1586L	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1589					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTCTATTTGGAACTTTCCT	0.473000										HNSCC(58;0.16)			12	41					0	0	0.002450	0	0
DMBT1	1755	broad.mit.edu	37	10	124339144	124339144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:124339144C>T	ENST00000368909.3	+	10	836	c.730C>T	c.(730-732)Cga>Tga	p.R244*	DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R244*|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R244*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R244*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R244*|DMBT1_ENST00000338354.3_Nonsense_Mutation_p.R244*	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	244	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R244*(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGACAGGTGTCGAGGCCGAGT	0.567000													68	213					0	0	0.003610	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060224	35060224	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:35060224C>T	ENST00000373913.3	+	3	584	c.104C>T	c.(103-105)tCg>tTg	p.S35L	DLGAP4_ENST00000401952.2_Missense_Mutation_p.S35L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.S35L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.S35L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	35					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TACCTGCTGTCGCCCACGGAG	0.701000													12	53					0	0	0.003163	0	0
SDC1	6382	broad.mit.edu	37	2	20402911	20402911	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:20402911G>A	ENST00000381150.1	-	5	1090	c.700C>T	c.(700-702)Cca>Tca	p.P234S	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.P234S	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	234					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGATCCACTGGGGACTGGTTC	0.612000													29	27					0	0	0.002445	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834424	61834424	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:61834424G>A	ENST00000370339.3	-	4	1209	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	YTHDF1_ENST00000370333.4_Missense_Mutation_p.P240S|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	290	Gln/Pro-rich.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGTGGAGAGGGTGCCTGCTGG	0.657000													23	24					0	0	0.001882	0	0
TM4SF4	7104	broad.mit.edu	37	3	149205420	149205420	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:149205420G>A	ENST00000305354.4	+	3	1183	c.279G>A	c.(277-279)acG>acA	p.T93T		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	93						integral to membrane		p.T93T(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCACCTCCACGATATTTGCTG	0.448000													9	35					0	0	0.004482	0	0
HRH1	3269	broad.mit.edu	37	3	11301227	11301227	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:11301227C>T	ENST00000397056.1	+	3	695	c.504C>T	c.(502-504)ttC>ttT	p.F168F	HRH1_ENST00000431010.2_Silent_p.F168F|HRH1_ENST00000438284.2_Silent_p.F168F	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	168					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGAATCACTTCATGCAGCAGA	0.517000													23	32					0	0	0.006320	0	0
PLCB1	23236	broad.mit.edu	37	20	8678391	8678391	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:8678391C>T	ENST00000378641.3	+	11	1603	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	PLCB1_ENST00000378637.2_Silent_p.I376I|PLCB1_ENST00000338037.6_Silent_p.I376I	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	376	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACCTGTCATCACCCATGGCT	0.478000													17	37					0	0	0.006122	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998783	8998783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:8998783G>A	ENST00000310455.3	-	2	529	c.379C>T	c.(379-381)Cga>Tga	p.R127*	PPP1R3B_ENST00000519699.1_Nonsense_Mutation_p.R127*	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	127	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GCCTGAAGTCGATTTCTAAAG	0.502000													22	34					0	0	0.001882	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099474	142099474	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:142099474G>A	ENST00000390359.3	-	0	366																											CTGGCACAGAGATACACGGCG	0.562000													6	45					0	0	0.003080	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999268	27999268	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:27999268C>T	ENST00000441525.1	-	1	298	c.184G>A	c.(184-186)Gat>Aat	p.D62N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	62								p.D62N(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTGCTGGCATCGTTCAGGAAA	0.507000													36	21					0	0	0.002836	0	0
ANXA9	8416	broad.mit.edu	37	1	150960769	150960769	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:150960769C>T	ENST00000368947.4	+	12	1280	c.804C>T	c.(802-804)atC>atT	p.I268I		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	268					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTCGGTGATCAAGAACACAC	0.512000													37	42					0	0	0.006999	0	0
FNDC1	84624	broad.mit.edu	37	6	159654087	159654087	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:159654087C>T	ENST00000297267.9	+	11	2743	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	FNDC1_ENST00000340366.6_Missense_Mutation_p.S785F	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	848						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCTCCAGCTCCCCACAGTCG	0.602000													6	2					0	0	0.001168	0	0
LOC440040	440040	broad.mit.edu	37	11	49831763	49831763	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:49831763C>T	ENST00000527477.1	+	0	1988																											CACCTCCTCTCAGGCCTATCT	0.433000													68	44					0	0	0.003610	0	0
LHPP	64077	broad.mit.edu	37	10	126172829	126172829	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:126172829C>T	ENST00000368842.5	+	2	275	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	LHPP_ENST00000392757.4_Missense_Mutation_p.P83S|LHPP_ENST00000368839.1_Missense_Mutation_p.P83S	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	83					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGTGACCGCCCCGGCACCAGC	0.632000													4	39					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179436997	179436997	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179436997C>T	ENST00000589042.1	-	326	74086	c.73862G>A	c.(73861-73863)gGa>gAa	p.G24621E	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G22980E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G15556E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G15681E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G15748E|TTN_ENST00000342992.6_Missense_Mutation_p.G22053E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22980	Ig-like 122.						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)			AGTTATTTTTCCTGGAGGAAG	0.458000													17	14					0	0	0.008871	0	0
ERN2	10595	broad.mit.edu	37	16	23722238	23722238	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:23722238C>T	ENST00000256797.4	-	2	507	c.339G>A	c.(337-339)agG>agA	p.R113R	ERN2_ENST00000457008.2_Silent_p.R65R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	65					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTCACCATCCCTCAGAGTCC	0.532000													14	42					0	0	0.003163	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036637	13036637	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:13036637C>T	ENST00000376187.1	+	2	709	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	237										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GAGGAATCTTCGCAAACTCTT	0.473000													26	101					0	0	0.001786	0	0
KRT31	3881	broad.mit.edu	37	17	39552713	39552713	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:39552713G>A	ENST00000251645.2	-	3	599	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	183	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCTCCTTCAGGGACTCCACC	0.582000													31	8					0	0	0.003271	0	0
FAM83B	222584	broad.mit.edu	37	6	54805639	54805639	+	Silent	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:54805639T>C	ENST00000306858.7	+	5	1986	c.1870T>C	c.(1870-1872)Tta>Cta	p.L624L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	624										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCAGTAGCCTTAAACCAAAC	0.403000													19	42					0	0	0.001523	0	0
MUC3A	4584	broad.mit.edu	37	7	100551602	100551602	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100551602C>T	ENST00000319509.7	+	1	353	c.353C>T	c.(352-354)tCc>tTc	p.S118F						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCAATCAGTTCCTTTAGCACA	0.493000													9	296					0	0	0.001786	0	0
POLR2F	5435	broad.mit.edu	37	22	38355426	38355426	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:38355426C>T	ENST00000442738.2	+	3	289	c.164C>T	c.(163-165)cCa>cTa	p.P55L	POLR2F_ENST00000405557.1_Missense_Mutation_p.P55L|POLR2F_ENST00000407936.1_Missense_Mutation_p.P55L|POLR2F_ENST00000606538.1_Missense_Mutation_p.P55L|POLR2F_ENST00000488684.1_Missense_Mutation_p.H75Y|POLR2F_ENST00000484894.1_3'UTR|POLR2F_ENST00000470701.1_Missense_Mutation_p.P50L|POLR2F_ENST00000460648.1_Intron	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	55					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					ATCACCACACCATACATGACC	0.582000													47	97					0	0	0.003610	0	0
KRT7	3855	broad.mit.edu	37	12	52639340	52639340	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:52639340G>A	ENST00000331817.5	+	7	1312	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	377	Coil 2.|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)		TGAGTACCAGGAACTCATGAG	0.637000													19	23					0	0	0.001523	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262913	159262913	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:159262913C>T	ENST00000522287.1	-	0	430					NR_028496.1																						ACCTAAACCTCCTATTGTAAA	0.408000													29	14					0	0	0.002836	0	0
GRM7	2917	broad.mit.edu	37	3	7620396	7620396	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:7620396G>A	ENST00000486284.1	+	8	2077	c.1803G>A	c.(1801-1803)ggG>ggA	p.G601G	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.G601G|GRM7_ENST00000403881.1_Silent_p.G601G|GRM7_ENST00000357716.4_Silent_p.G601G|GRM7_ENST00000389336.4_Silent_p.G601G	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	601					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.G601G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAATGTTGGGGATCATTGCCA	0.532000													11	68					0	0	0.000978	0	0
FBXW10	10517	broad.mit.edu	37	17	18675803	18675803	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:18675803G>A	ENST00000308799.4	+	11	2391	c.2172G>A	c.(2170-2172)acG>acA	p.T724T	FBXW10_ENST00000395667.1_Silent_p.T695T|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395665.4_Silent_p.T695T|FBXW10_ENST00000301938.4_Silent_p.T642T			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	695										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						Tggaaaaaacgaaacaaaaga	0.408000													69	37					0	0	0.003610	0	0
RTN1	6252	broad.mit.edu	37	14	60193865	60193865	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:60193865G>A	ENST00000267484.5	-	3	1872	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	513					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGGCCCCGCCGGCTTGGCGCA	0.726000													6	2					0	0	0.001984	0	0
GPR98	84059	broad.mit.edu	37	5	89938704	89938704	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:89938704G>A	ENST00000405460.2	+	13	2495	c.2399G>A	c.(2398-2400)cGa>cAa	p.R800Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	800					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)		CACATCATCCGATCAAGGGGG	0.398000													54	22					0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38980372	38980372	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:38980372G>A	ENST00000359357.3	+	89	13276	c.13022G>A	c.(13021-13023)aGg>aAg	p.R4341K	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4305K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGAAGGGAGGCCTAATGTG	0.423000													61	172					0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196740495	196740495	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:196740495T>C	ENST00000312428.6	-	38	6290	c.6190A>G	c.(6190-6192)Aga>Gga	p.R2064G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2064	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						AACCACTGTCTAAGTAACTCA	0.438000													12	25					0	0	0.001368	0	0
PCDH15	65217	broad.mit.edu	37	10	55782729	55782729	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:55782729G>A	ENST00000373965.2	-	20	2864	c.2470C>T	c.(2470-2472)Cct>Tct	p.P824S	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P795S|PCDH15_ENST00000361849.3_Missense_Mutation_p.P817S|PCDH15_ENST00000373955.1_Missense_Mutation_p.P817S|PCDH15_ENST00000409834.1_Missense_Mutation_p.P428S|PCDH15_ENST00000395432.2_Missense_Mutation_p.P780S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P817S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P746S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P824S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P822S|PCDH15_ENST00000395438.1_Missense_Mutation_p.P817S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P817S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	817	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGAACACAGGACTGTTATCA	0.423000										HNSCC(58;0.16)			11	48					0	0	0.008291	0	0
SMAD9	4093	broad.mit.edu	37	13	37446898	37446898	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:37446898G>A	ENST00000379826.4	-	3	909	c.567C>T	c.(565-567)ctC>ctT	p.L189L	SMAD9_ENST00000350148.5_Silent_p.L189L|SMAD9_ENST00000399275.2_Silent_p.L189L	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	189					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GTGAGGGAGGGAGTGCAGAGC	0.622000													20	14					0	0	0.001882	0	0
DOPEY2	9980	broad.mit.edu	37	21	37581028	37581028	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:37581028C>T	ENST00000399151.3	+	5	592	c.507C>T	c.(505-507)ctC>ctT	p.L169L	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	169					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATGCTCTGCTCCTGAGACTGT	0.602000													11	33					0	0	0.008291	0	0
SCN3A	6328	broad.mit.edu	37	2	165972057	165972057	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:165972057C>T	ENST00000360093.3	-	19	3913	c.3422G>A	c.(3421-3423)gGa>gAa	p.G1141E	SCN3A_ENST00000409101.3_Missense_Mutation_p.G1092E|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1141E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1141						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)	AACTGTGCTTCCTTCAGATGA	0.393000													21	22					0	0	0.003330	0	0
PTPRT	11122	broad.mit.edu	37	20	41101158	41101158	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:41101158C>T	ENST00000373198.3	-	8	1433	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	PTPRT_ENST00000373187.1_Missense_Mutation_p.A400T|PTPRT_ENST00000373190.1_Missense_Mutation_p.A400T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A400T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A400T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A400T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A400T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	400	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGCTGCCGGGCTCTGATGTCT	0.567000													8	47					0	0	0.004482	0	0
SCAND3	114821	broad.mit.edu	37	6	28543685	28543685	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28543685T>A	ENST00000452236.2	-	3	1414	c.797A>T	c.(796-798)gAa>gTa	p.E266V		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	266					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.E266V(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTCAACTGATTCCTTTTTCGC	0.353000													38	126					0	0	0.004878	0	0
VPS13D	55187	broad.mit.edu	37	1	12316509	12316509	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:12316509C>T	ENST00000358136.3	+	8	919	c.789C>T	c.(787-789)ccC>ccT	p.P263P	VPS13D_ENST00000356315.4_Silent_p.P263P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	263					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCACAGTCCCCGTATTGATT	0.502000													59	84					0	0	0.003610	0	0
NPAP1	23742	broad.mit.edu	37	15	24923731	24923731	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:24923731G>A	ENST00000329468.2	+	1	3191	c.2717G>A	c.(2716-2718)gGg>gAg	p.G906E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCCACTGATGGGCAGCAGAAG	0.502000													34	77					0	0	0.006230	0	0
FAM9A	171482	broad.mit.edu	37	X	8767068	8767068	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:8767068C>T	ENST00000543214.1	-	3	294	c.159G>A	c.(157-159)agG>agA	p.R53R	FAM9A_ENST00000381003.3_Silent_p.R53R	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	53						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TGGCAGCCTTCCTGCTGCGCT	0.567000													17	10					0	0	0.004007	0	0
ZNF750	79755	broad.mit.edu	37	17	80790281	80790281	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:80790281C>T	ENST00000269394.3	-	2	883	c.50G>A	c.(49-51)aGg>aAg	p.R17K	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	17						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCTGGAGGCCTGGGGATGTA	0.443000													36	88					0	0	0.002222	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224297	172224297	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:172224297G>A	ENST00000241261.2	-	5	953	c.831C>T	c.(829-831)gcC>gcT	p.A277A	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	277					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAACTAAAAAGGCCCCAAAAA	0.358000													14	15					0	0	0.004990	0	0
SLC17A9	63910	broad.mit.edu	37	20	61595008	61595008	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:61595008C>T	ENST00000370349.3	+	8	984	c.780C>T	c.(778-780)ttC>ttT	p.F260F	SLC17A9_ENST00000370351.4_Silent_p.F266F|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	266					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCACCTTCTTCGAGGAGACCT	0.662000													5	5					0	0	0.003080	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862794	10862794	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:10862794G>A	ENST00000559480.1	+	0	90																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGGCTGAGGTGAAGAAGCCTG	0.567000													25	150					0	0	0.005443	0	0
GATA2	2624	broad.mit.edu	37	3	128204928	128204928	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:128204928G>A	ENST00000341105.2	-	3	844	c.513C>T	c.(511-513)ttC>ttT	p.F171F	GATA2_ENST00000430265.2_Silent_p.F171F|GATA2_ENST00000487848.1_Silent_p.F171F	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	171					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GTGGGAAGCCGAAAAGGTGGG	0.677000			Mis		AML(CML blast transformation)								16	9					0	0	0.004007	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673286	25673286	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:25673286G>A	ENST00000382051.3	+	9	1041	c.991G>A	c.(991-993)Gat>Aat	p.D331N	SLC34A2_ENST00000504570.1_Missense_Mutation_p.D330N|SLC34A2_ENST00000503434.1_Missense_Mutation_p.D330N	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	331					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTGTTGGACGGATGGCATCCA	0.507000			T	ROS1	NSCLC								59	93					0	0	0.003610	0	0
OR2W5	441932	broad.mit.edu	37	1	247655000	247655000	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:247655000G>A	ENST00000522351.1	+	0	631							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCTTGTGAGGAAACCATGCT	0.577000													17	82					0	0	0.006122	0	0
LILRB5	10990	broad.mit.edu	37	19	54760607	54760607	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:54760607C>T	ENST00000450632.1	-	3	177	c.100G>A	c.(100-102)Gag>Aag	p.E34K	LILRB5_ENST00000316219.5_Missense_Mutation_p.E34K|LILRB5_ENST00000345866.6_Missense_Mutation_p.E34K|LILRB5_ENST00000449561.2_Missense_Mutation_p.E34K			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	34	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGGCTGGCTCAGCCCAGAGG	0.617000													29	25					0	0	0.001786	0	0
CPXM2	119587	broad.mit.edu	37	10	125528107	125528107	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:125528107C>T	ENST00000241305.3	-	9	1388	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	412					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGCGTCTCCTCCACCAGGTGG	0.627000													35	32					0	0	0.003271	0	0
PCLO	27445	broad.mit.edu	37	7	82583475	82583475	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:82583475G>A	ENST00000423517.2	-	5	7131	c.6794C>T	c.(6793-6795)tCc>tTc	p.S2265F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2265F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2196					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCAGATAAGGAAATAACAAT	0.393000													47	30					0	0	0.003610	0	0
GGT5	2687	broad.mit.edu	37	22	24621589	24621589	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:24621589C>T	ENST00000327365.4	-	9	1677	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S	GGT5_ENST00000263112.7_Missense_Mutation_p.G389S|GGT5_ENST00000398292.3_Missense_Mutation_p.G421S|GGT5_ENST00000418439.2_Missense_Mutation_p.G344S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	421					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGGATGATGCCTGTCCGTGGT	0.627000													14	35					0	0	0.002450	0	0
CNTN3	5067	broad.mit.edu	37	3	74315713	74315713	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:74315713C>T	ENST00000263665.6	-	21	2932	c.2905G>A	c.(2905-2907)Gac>Aac	p.D969N	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	969	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATAATGTAGTCCTCTTTAATG	0.408000													54	29					0	0	0.003610	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748817	8748817	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:8748817G>A	ENST00000276282.6	-	1	2338	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	584	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AGCGCAGCTCGAAGTCCCGGG	0.637000													26	19					0	0	0.007291	0	0
A2M	2	broad.mit.edu	37	12	9265965	9265965	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:9265965G>A	ENST00000318602.7	-	2	568	c.261C>T	c.(259-261)gtC>gtT	p.V87V		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	87					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGCGAAGGCGACACAGTGGA	0.488000													26	14					0	0	0.005443	0	0
OGT	8473	broad.mit.edu	37	X	70782856	70782856	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:70782856C>T	ENST00000373719.3	+	16	2354	c.2137C>T	c.(2137-2139)Cct>Tct	p.P713S	OGT_ENST00000373701.3_Missense_Mutation_p.P703S	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	713					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TAATATGTTCCCTCACCTGAA	0.388000													28	15					0	0	0.001786	0	0
DNAH5	1767	broad.mit.edu	37	5	13751282	13751282	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:13751282C>T	ENST00000265104.4	-	65	11220	c.11116G>A	c.(11116-11118)Gag>Aag	p.E3706K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3706	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCACTTATCTCAGGGGTGTAG	0.448000									Kartagener syndrome				23	16					0	0	0.005443	0	0
DOK6	220164	broad.mit.edu	37	18	67345046	67345046	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:67345046G>A	ENST00000382713.5	+	4	556	c.366G>A	c.(364-366)ggG>ggA	p.G122G	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	122							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCAGCCTTGGGGAGCCCGACC	0.532000													11	24					0	0	0.001855	0	0
KLF15	28999	broad.mit.edu	37	3	126070768	126070768	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:126070768G>A	ENST00000296233.3	-	2	1228	c.998C>T	c.(997-999)aCc>aTc	p.T333I		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	333						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GCTGCTTTTGGTGTACATCTT	0.597000													8	21					0	0	0.003080	0	0
SEPT14	346288	broad.mit.edu	37	7	55874950	55874950	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:55874950C>T	ENST00000388975.3	-	8	935	c.817_splice	c.e8-1	p.V273_splice		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	273					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTCATTTTCCACTAGTAAAA	0.303000													15	51					0	0	0.004007	0	0
MTOR	2475	broad.mit.edu	37	1	11264758	11264758	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11264758G>A	ENST00000361445.4	-	26	3880	c.3804C>T	c.(3802-3804)gcC>gcT	p.A1268A		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1268					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGCGCCCCAGGCCTGTGATC	0.488000													4	15					0	0	0.001168	0	0
TMC5	79838	broad.mit.edu	37	16	19471648	19471648	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:19471648G>A	ENST00000396229.2	+	6	1889	c.1140G>A	c.(1138-1140)agG>agA	p.R380R	TMC5_ENST00000219821.5_Silent_p.R134R|TMC5_ENST00000381414.4_Silent_p.R380R|TMC5_ENST00000542583.2_Silent_p.R380R|TMC5_ENST00000564959.1_Silent_p.R42R|TMC5_ENST00000541464.1_Silent_p.R380R|TMC5_ENST00000561503.1_Silent_p.R21R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	380						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGAGAAAAGGAACCTTAGGT	0.398000													7	14					0	0	0.003080	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179886931	179886931	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:179886931C>T	ENST00000435319.3	+	10	1500	c.1309C>T	c.(1309-1311)Cgt>Tgt	p.R437C	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R453C	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	437						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TTCTTCTTTTCGTAGTGTCCG	0.458000													13	56					0	0	0.001855	0	0
ZNF713	349075	broad.mit.edu	37	7	56006968	56006968	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:56006968C>T	ENST00000429591.2	+	4	600	c.562C>T	c.(562-564)Cct>Tct	p.P188S	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCAGAGAATTCCTTCCATTAA	0.373000													10	44					0	0	0.006214	0	0
ADCY8	114	broad.mit.edu	37	8	131812783	131812783	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:131812783C>T	ENST00000286355.5	-	15	5041	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V	ADCY8_ENST00000377928.3_Silent_p.V852V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	983					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.V983V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGCAAACATCACCCCAACAG	0.493000										HNSCC(32;0.087)			17	47					0	0	0.007413	0	0
C1orf101	257044	broad.mit.edu	37	1	244756834	244756834	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:244756834C>T	ENST00000366534.4	+	17	2311	c.2257C>T	c.(2257-2259)Cct>Tct	p.P753S	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.P753S|C1orf101_ENST00000366531.3_Missense_Mutation_p.P602S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	753						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATATGGCTGCCCTCTGAGGCT	0.323000													19	26					0	0	0.006122	0	0
SULT1B1	27284	broad.mit.edu	37	4	70599889	70599889	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:70599889C>T	ENST00000310613.2	-	5	766	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	157					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AGATATTCTTCCCAGGTACCA	0.299000													6	11					0	0	0.003080	0	0
NPAP1	23742	broad.mit.edu	37	15	24923400	24923400	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:24923400C>T	ENST00000329468.2	+	1	2860	c.2386C>T	c.(2386-2388)Cct>Tct	p.P796S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGAGCCTTCCTATCATGGT	0.542000													26	56					0	0	0.003954	0	0
AMBN	258	broad.mit.edu	37	4	71471911	71471911	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:71471911G>A	ENST00000322937.6	+	13	911	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	AMBN_ENST00000449493.2_Missense_Mutation_p.E255K	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	270					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GGGCGGGAGAGAAGACCCAAT	0.502000													18	38					0	0	0.007413	0	0
MTOR	2475	broad.mit.edu	37	1	11273516	11273516	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11273516G>A	ENST00000361445.4	-	21	3301	c.3225C>T	c.(3223-3225)atC>atT	p.I1075I		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1075				I -> S (in Ref. 2; AAC39933).	cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCATGTGTGGGATCAGCTGGG	0.488000													38	31					0	0	0.005524	0	0
RUSC2	9853	broad.mit.edu	37	9	35555368	35555368	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:35555368C>T	ENST00000455600.1	+	3	2895	c.2326C>T	c.(2326-2328)Ccc>Tcc	p.P776S		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	776						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCGGCCATCGCCCCTGGGCAG	0.667000													34	32					0	0	0.004878	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974684	21974684	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:21974684G>A	ENST00000304494.5	-	1	413	c.143C>T	c.(142-144)cCg>cTg	p.P48L	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.P48L(8)|p.P48R(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTGGATCGGCCTCCGACC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			134	70					0	0	0.003610	0	0
MFSD6	54842	broad.mit.edu	37	2	191364880	191364880	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:191364880G>A	ENST00000392328.1	+	8	2636	c.2312G>A	c.(2311-2313)aGt>aAt	p.S771N	MFSD6_ENST00000535751.1_Missense_Mutation_p.S233N|MFSD6_ENST00000281416.7_Missense_Mutation_p.S771N	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	771					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GCTCACCCCAGTGTGGACCCG	0.617000													10	43					0	0	0.008291	0	0
MRPL39	54148	broad.mit.edu	37	21	26965265	26965265	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:26965265G>A	ENST00000307301.7	-	8	821	c.780C>T	c.(778-780)ttC>ttT	p.F260F	MRPL39_ENST00000352957.4_Silent_p.F260F	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	260						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TCACATCAATGAAGTCACCTA	0.358000													13	43					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	8997440	8997440	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:8997440T>G	ENST00000397910.4	-	59	41185	c.40982A>C	c.(40981-40983)aAc>aCc	p.N13661T	MUC16_ENST00000380951.5_Missense_Mutation_p.N302T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13663	SEA 11.			Missing (in Ref. 3; AAK74120).	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						CTCCGTGGTGTTGAACTTCCT	0.572000													36	8					0	0	0.005524	0	0
DAXX	1616	broad.mit.edu	37	6	33287363	33287363	+	Silent	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:33287363G>T	ENST00000374542.5	-	6	1938	c.1734C>A	c.(1732-1734)acC>acA	p.T578T	DAXX_ENST00000414083.2_Silent_p.T503T|DAXX_ENST00000266000.6_Silent_p.T578T|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	578	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CAGAGGAAGGGGTATCCAGGG	0.517000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								38	97					3.21399e-22	4.9567e-22	0.004878	1	0
RASGRF1	5923	broad.mit.edu	37	15	79320162	79320162	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:79320162C>T	ENST00000419573.3	-	9	1576	c.1302G>A	c.(1300-1302)cgG>cgA	p.R434R	RASGRF1_ENST00000558480.2_Silent_p.R434R|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	434					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCAGGTTTTTCCGGATGTTCT	0.552000													23	82					0	0	0.003954	0	0
BPIFB2	80341	broad.mit.edu	37	20	31598913	31598913	+	Nonsense_Mutation	SNP	C	C	T	rs147239233		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:31598913C>T	ENST00000170150.3	+	3	388	c.193C>T	c.(193-195)Cag>Tag	p.Q65*		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	65						extracellular region	lipid binding										AGAGGCGCTTCAGCCCACCAG	0.622000													11	62					0	0	0.008291	0	0
GLP1R	2740	broad.mit.edu	37	6	39024227	39024227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:39024227C>T	ENST00000373256.4	+	2	176	c.133C>T	c.(133-135)Cag>Tag	p.Q45*		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	45					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	ATACCGACGCCAGTGCCAGCG	0.622000													12	25					0	0	0.003163	0	0
OR5B3	441608	broad.mit.edu	37	11	58170161	58170161	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:58170161G>A	ENST00000309403.2	-	1	721	c.722C>T	c.(721-723)tCt>tTt	p.S241F		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S241Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATGAAATGAGAGGCACAGGT	0.443000													11	12					0	0	0.000978	0	0
MMP24	10893	broad.mit.edu	37	20	33834786	33834786	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:33834786G>A	ENST00000246186.6	+	2	475	c.390G>A	c.(388-390)acG>acA	p.T130T	MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000454184.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	130					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATCAGACAACGATCGAGTAAG	0.522000													43	54					0	0	0.003610	0	0
ENPP4	22875	broad.mit.edu	37	6	46111256	46111256	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:46111256C>T	ENST00000321037.4	+	4	1471	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	414						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTTATCGGTTCACTCTTGGTG	0.418000													20	68					0	0	0.001882	0	0
CPED1	79974	broad.mit.edu	37	7	120740026	120740026	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:120740026G>A	ENST00000310396.5	+	7	1263	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	CPED1_ENST00000450913.2_Missense_Mutation_p.E266K|CPED1_ENST00000423795.1_Missense_Mutation_p.E46K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTTTCGAGCCGAAGATCTATC	0.408000													26	19					0	0	0.006320	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511075	58511075	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:58511075C>T	ENST00000588627.1	-	0	2282																											GAAATATTTTCCTTTGTGCTT	0.393000													22	2					0	0	0.001882	0	0
STOX2	56977	broad.mit.edu	37	4	184930614	184930614	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:184930614G>A	ENST00000308497.4	+	3	2058	c.623G>A	c.(622-624)aGc>aAc	p.S208N	STOX2_ENST00000438269.1_Missense_Mutation_p.S208N	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	208					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GACGTGCACAGCACGCATGCA	0.587000													23	37					0	0	0.002299	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058282	152058282	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152058282C>T	ENST00000368806.1	-	3	1940	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	626							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCAGGCTGTTCCTGGTCCTCT	0.567000													34	41					0	0	0.003755	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169011	60169011	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:60169011G>A	ENST00000261187.4	+	4	1099	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312Q|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312Q|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213Q|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312Q	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	312						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.R312Q(1)|p.R312L(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATTCGACCTCGAATTCAGTAC	0.423000													13	95					0	0	0.001855	0	0
POTEG	404785	broad.mit.edu	37	14	19573100	19573100	+	Splice_Site	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:19573100G>T	ENST00000409832.3	+	8	1250	c.1197_splice	c.e8-1	p.E400_splice		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	400										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCATCTGCAGGAAATGTCTCA	0.284000													9	64					1.05317e-09	1.61342e-09	0.002450	1	0
ZNF488	118738	broad.mit.edu	37	10	48371305	48371305	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:48371305C>T	ENST00000395702.2	+	2	1000	c.773C>T	c.(772-774)tCg>tTg	p.S258L	ZNF488_ENST00000586537.1_Missense_Mutation_p.S151L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TCCACCACTTCGTGGGCCCTC	0.612000													17	21					0	0	0.007413	0	0
DMBT1	1755	broad.mit.edu	37	10	124345579	124345579	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:124345579C>T	ENST00000368909.3	+	16	1569	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S478F|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.S478F|DMBT1_ENST00000338354.3_Missense_Mutation_p.S488F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	488					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTGTAGGATCTGAATCCAGT	0.527000													112	117					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882627	228882627	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:228882627C>T	ENST00000392056.3	-	7	2989	c.2943G>A	c.(2941-2943)agG>agA	p.R981R	SPHKAP_ENST00000344657.5_Silent_p.R981R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	981						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCTTTCTTCCTCTTCAAGG	0.542000													25	27					0	0	0.003330	0	0
OR10T2	128360	broad.mit.edu	37	1	158368870	158368870	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158368870G>A	ENST00000334438.1	-	1	386	c.387C>T	c.(385-387)caC>caT	p.H129H		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACCTCAGAGGGTGACAAATTG	0.488000													10	47					0	0	0.008291	0	0
MMP25	64386	broad.mit.edu	37	16	3107594	3107594	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:3107594G>A	ENST00000336577.4	+	7	1223	c.986G>A	c.(985-987)gGg>gAg	p.G329E	RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	329	Hemopexin-like 1.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						AACATCCGAGGGGAAACTTTC	0.537000													25	36					0	0	0.005443	0	0
ANKFN1	162282	broad.mit.edu	37	17	54526526	54526526	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:54526526C>T	ENST00000566473.2	+	10	1195	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	ANKFN1_ENST00000318698.2_Missense_Mutation_p.H399Y			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	399										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CCGAGCCCTTCATCAGCATTA	0.502000													77	22					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152286754	152286754	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152286754C>T	ENST00000368799.1	-	3	643	c.608G>A	c.(607-609)aGa>aAa	p.R203K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	203					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)			CTCTTCAAGTCTTTCACTTAG	0.323000									Ichthyosis				20	32					0	0	0.001523	0	0
TLR8	51311	broad.mit.edu	37	X	12939764	12939764	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:12939764G>A	ENST00000218032.6	+	2	2692	c.2605G>A	c.(2605-2607)Ggc>Agc	p.G869S	TLR8_ENST00000311912.5_Missense_Mutation_p.G887S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	869					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAAGGTAAAAGGCTACAGGTC	0.408000													53	21					0	0	0.003610	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346577	70346577	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:70346577C>T	ENST00000305107.6	-	6	1408	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	UGT2B4_ENST00000381096.3_Silent_p.V318V|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	454					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAGGGGCTTCACTGGTTGAT	0.418000													29	69					0	0	0.007291	0	0
RNF8	9025	broad.mit.edu	37	6	37349114	37349114	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:37349114C>T	ENST00000373479.4	+	7	1618	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	475					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAATTGTTCTCATTAGGGAAC	0.368000													18	54					0	0	0.008871	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519160	113519160	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:113519160C>T	ENST00000284601.3	-	4	2055	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	663					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGATTTTCCCTGACTTTCC	0.363000													53	36					0	0	0.003610	0	0
ILDR1	286676	broad.mit.edu	37	3	121707230	121707230	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:121707230C>T	ENST00000273691.3	-	7	1598	c.1493G>A	c.(1492-1494)aGg>aAg	p.R498K	ILDR1_ENST00000393631.1_Missense_Mutation_p.R453K|ILDR1_ENST00000462014.1_Missense_Mutation_p.R510K|ILDR1_ENST00000344209.5_Missense_Mutation_p.R542K	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	542						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GACCACACTCCTTCCACTATG	0.453000													7	19					0	0	0.006214	0	0
ARSA	410	broad.mit.edu	37	22	51065138	51065138	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:51065138G>A	ENST00000547307.1	-	4	1134	c.729C>T	c.(727-729)ggC>ggT	p.G243G	ARSA_ENST00000453344.2_Silent_p.G159G|ARSA_ENST00000395621.3_Silent_p.G245G|ARSA_ENST00000547805.1_Silent_p.G243G|ARSA_ENST00000216124.5_Silent_p.G245G|ARSA_ENST00000395619.3_Silent_p.G245G|ARSA_ENST00000356098.5_Silent_p.G245G			P15289	ARSA_HUMAN	arylsulfatase A	243						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	ATGGCCCGCGGCCTGAACGCT	0.622000													8	21					0	0	0.004482	0	0
OR10K2	391107	broad.mit.edu	37	1	158390029	158390029	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158390029G>A	ENST00000314902.2	-	1	627	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AACAATAAGGGGATAGCCAGG	0.453000													13	13					0	0	0.001368	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655980	40655980	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:40655980C>T	ENST00000406785.1	-	2	1630	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	SLC8A1_ENST00000405269.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D481N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D481N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D481N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D481N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	481	Calx-beta 1.				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)	ATATCATCATCTATGATACCC	0.418000													13	18					0	0	0.001368	0	0
FGF1	2246	broad.mit.edu	37	5	141974978	141974978	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:141974978C>T	ENST00000359370.6	-	4	424	c.345G>A	c.(343-345)aaG>aaA	p.K115K	FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000337706.2_Silent_p.K115K|FGF1_ENST00000407758.1_3'UTR|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000494579.1_5'UTR|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000378046.1_Silent_p.K115K|FGF1_ENST00000419524.2_Silent_p.K115K	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	115					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	CTGCATGCTTCTTGGATATAT	0.443000													30	13					0	0	0.001786	0	0
ATP9A	10079	broad.mit.edu	37	20	50235499	50235499	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:50235499G>A	ENST00000338821.5	-	20	2463	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	ATP9A_ENST00000402822.1_Silent_p.S612S|ATP9A_ENST00000311637.5_Silent_p.S597S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	733					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACCTCCAGGGAGTCTCCCG	0.652000													29	31					0	0	0.004878	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951054	30951054	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:30951054G>A	ENST00000402321.1	-	3	1475	c.1158C>T	c.(1156-1158)caC>caT	p.H386H	GAL3ST1_ENST00000406361.1_Silent_p.H386H|GAL3ST1_ENST00000402369.1_Silent_p.H386H|GAL3ST1_ENST00000401975.1_Silent_p.H386H|GAL3ST1_ENST00000406955.1_Silent_p.H386H|GAL3ST1_ENST00000443111.2_Silent_p.H386H|GAL3ST1_ENST00000338911.5_Silent_p.H386H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	386					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGAGCTGCGCGTGCCGCTGCC	0.647000													25	38					0	0	0.005443	0	0
HEPH	9843	broad.mit.edu	37	X	65392390	65392390	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:65392390C>T	ENST00000519389.1	+	3	702	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	HEPH_ENST00000441993.2_Missense_Mutation_p.R124C|HEPH_ENST00000343002.2_Missense_Mutation_p.R121C|HEPH_ENST00000374727.3_Missense_Mutation_p.R124C|HEPH_ENST00000419594.1_Missense_Mutation_p.R124C|HEPH_ENST00000336279.5_5'UTR			Q9BQS7	HEPH_HUMAN	hephaestin	121	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTTTGCCACTCGTCCCTATAC	0.507000													39	26					0	0	0.007835	0	0
USP9X	8239	broad.mit.edu	37	X	41069821	41069821	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:41069821C>T	ENST00000324545.7	+	33	5708	c.5075C>T	c.(5074-5076)tCa>tTa	p.S1692L	USP9X_ENST00000378308.2_Missense_Mutation_p.S1692L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1692					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTTTTAATTCATTGGTGGAT	0.363000													32	16					0	0	0.004289	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474517	84474517	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:84474517G>A	ENST00000416219.2	+	14	1353	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	ATP2C2_ENST00000262429.4_Missense_Mutation_p.E422K|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	422					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACCATCCAAGGAAGTCATTAA	0.483000													7	41					0	0	0.000978	0	0
VWF	7450	broad.mit.edu	37	12	6061606	6061606	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:6061606C>T	ENST00000261405.5	-	49	8320	c.8066G>A	c.(8065-8067)aGg>aAg	p.R2689K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2689					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCTGTGACCCTCTTCTCCCA	0.502000													17	12					0	0	0.004990	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270268	18270268	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:18270268G>A	ENST00000377369.2	+	6	1225	c.952G>A	c.(952-954)Gag>Aag	p.E318K	SLC39A12_ENST00000539911.1_Missense_Mutation_p.E184K|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E318K|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E318K	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	318					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.E318*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCAGCTGGTGGAGATATTTCT	0.453000													17	25					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9087904	9087904	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9087904G>A	ENST00000397910.4	-	1	4114	c.3911C>T	c.(3910-3912)tCa>tTa	p.S1304L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1304	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1304L(2)		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						CATCTCAGGTGAAGACCCAGA	0.493000													23	15					0	0	0.001882	0	0
STRA6	64220	broad.mit.edu	37	15	74494575	74494575	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:74494575G>A	ENST00000323940.5	-	2	279	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	STRA6_ENST00000432245.2_Missense_Mutation_p.P12S|STRA6_ENST00000563965.1_Missense_Mutation_p.P51S|STRA6_ENST00000449139.2_Missense_Mutation_p.P12S|STRA6_ENST00000423167.2_Missense_Mutation_p.P12S|STRA6_ENST00000535552.1_Missense_Mutation_p.P49S|STRA6_ENST00000416286.3_Missense_Mutation_p.P12S|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Missense_Mutation_p.P27S|STRA6_ENST00000395105.4_Missense_Mutation_p.P12S	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	12					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GTGGCCCCGGGGGAGGTCTGG	0.597000													13	33					0	0	0.004007	0	0
NYAP1	222950	broad.mit.edu	37	7	100086917	100086917	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100086917C>T	ENST00000423930.1	+	4	1732	c.1573C>T	c.(1573-1575)Ctc>Ttc	p.L525F	NYAP1_ENST00000300179.2_Missense_Mutation_p.L525F|NYAP1_ENST00000454988.1_Missense_Mutation_p.L468F			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	525																	AGCTGGGGTCCTCCACCACCG	0.697000													4	5					0	0	0.000248	0	0
S1PR5	53637	broad.mit.edu	37	19	10624658	10624658	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:10624658C>T	ENST00000439028.3	-	2	1155	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A344T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	344						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						CCCCCGGAAGCCTCAGCCGCG	0.756000													4	3					0	0	0.000602	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53653105	53653105	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:53653105G>A	ENST00000262135.4	-	22	3301	c.3208C>T	c.(3208-3210)Cgg>Tgg	p.R1070W	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1104W|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R1150W|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1116W	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1150					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R1150W(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCTCAATCCGAATTTTTTCT	0.338000													49	143					0	0	0.003610	0	0
ASXL1	171023	broad.mit.edu	37	20	31023033	31023033	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:31023033C>T	ENST00000375687.4	+	13	2942	c.2518C>T	c.(2518-2520)Cct>Tct	p.P840S	ASXL1_ENST00000306058.5_Missense_Mutation_p.P835S	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	840					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TATGAAGGATCCTGTAAATGT	0.498000			"""F, N, Mis"""		"""MDS, CMML"""								34	224					0	0	0.006999	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326709	89326709	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:89326709C>T	ENST00000483158.1	-	0	350																											ACTGCAAAATCTTCAGGCTCT	0.498000													18	50					0	0	0.001882	0	0
FARP2	9855	broad.mit.edu	37	2	242396191	242396191	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:242396191C>T	ENST00000264042.3	+	14	1611	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	FARP2_ENST00000373287.4_Missense_Mutation_p.P481S|FARP2_ENST00000545004.1_Missense_Mutation_p.P481S	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	481	Pro-rich.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TCAGCCTTCTCCCTCCAGCCG	0.607000													20	74					0	0	0.002780	0	0
CD300E	342510	broad.mit.edu	37	17	72613347	72613347	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:72613347C>T	ENST00000392619.1	-	2	414	c.379G>A	c.(379-381)Gga>Aga	p.G127R	CD300E_ENST00000328630.3_Missense_Mutation_p.G100R|CD300E_ENST00000426295.2_Missense_Mutation_p.G141R	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	100						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTAAGATCCAGCATCATCT	0.537000													68	30					0	0	0.003610	0	0
CGNL1	84952	broad.mit.edu	37	15	57730548	57730548	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:57730548G>A	ENST00000281282.5	+	2	429	c.351G>A	c.(349-351)ctG>ctA	p.L117L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	117	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TAAGAAACCTGAAACAGCCCC	0.507000													8	43					0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141143569	141143569	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:141143569G>A	ENST00000389484.3	-	67	11395	c.10424C>T	c.(10423-10425)aCt>aTt	p.T3475I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3475	LDL-receptor class A 25.				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)		AGGTCCACAAGTCTTTTTATC	0.413000										TSP Lung(27;0.18)			46	35					0	0	0.003610	0	0
HOMER3	9454	broad.mit.edu	37	19	19049244	19049244	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:19049244G>A	ENST00000539827.1	-	3	873	c.221C>T	c.(220-222)tCc>tTc	p.S74F	HOMER3_ENST00000433218.2_Missense_Mutation_p.S74F|HOMER3_ENST00000594439.1_Missense_Mutation_p.S74F|HOMER3_ENST00000355887.6_Missense_Mutation_p.S74F|HOMER3_ENST00000221222.11_Missense_Mutation_p.S74F|HOMER3_ENST00000392351.3_Missense_Mutation_p.S74F|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000542541.2_Missense_Mutation_p.S74F			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	74	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			GAACTTCTGGGAAGTTTTGGT	0.557000													21	16					0	0	0.001523	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754803	94754803	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:94754803C>T	ENST00000554723.1	-	3	1350	c.932G>A	c.(931-933)gGt>gAt	p.G311D	SERPINA10_ENST00000393096.1_Missense_Mutation_p.G271D|SERPINA10_ENST00000261994.4_Missense_Mutation_p.G271D|SERPINA10_ENST00000554173.1_Missense_Mutation_p.G271D			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	271					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTGCCTGCACCGTACATCAT	0.498000													30	23					0	0	0.001786	0	0
PTX4	390667	broad.mit.edu	37	16	1537890	1537890	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:1537890G>A	ENST00000447419.2	-	2	248	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	PTX4_ENST00000293922.1_Missense_Mutation_p.R70W|PTX4_ENST00000440447.2_Missense_Mutation_p.R75W			Q96A99	PTX4_HUMAN	pentraxin 4, long	75						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTCCGGAACCGGACGTCAACG	0.622000													22	78					0	0	0.002780	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729341	3729341	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:3729341G>A	ENST00000315677.3	-	7	1980	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	DLGAP1_ENST00000581699.1_Missense_Mutation_p.S168F|DLGAP1_ENST00000400145.2_Missense_Mutation_p.S160F|DLGAP1_ENST00000400147.2_Missense_Mutation_p.S160F|DLGAP1_ENST00000400149.3_Missense_Mutation_p.S170F|DLGAP1_ENST00000539435.1_Missense_Mutation_p.S160F|DLGAP1_ENST00000400155.1_Missense_Mutation_p.S168F|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S462F|DLGAP1_ENST00000400150.3_Missense_Mutation_p.S168F|DLGAP1_ENST00000581527.1_Missense_Mutation_p.S462F|DLGAP1_ENST00000534970.1_Missense_Mutation_p.S174F|DLGAP1_ENST00000584874.1_Missense_Mutation_p.S462F|DLGAP1_ENST00000478161.1_5'UTR	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	462					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTCGCACACGGACTCGAACTG	0.632000													10	11					0	0	0.000978	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512027	15512027	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:15512027G>A	ENST00000397410.4	-	5	814	c.750C>T	c.(748-750)ttC>ttT	p.F250F	AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Silent_p.F189F	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	250						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCAAACCCGAAACCAAAGC	0.632000													83	61					0	0	0.003610	0	0
CCDC11	220136	broad.mit.edu	37	18	47769351	47769351	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:47769351C>T	ENST00000398545.4	-	6	1249	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	378										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AGTCTCAGCTCCTTGTCCTTC	0.413000													36	85					0	0	0.006999	0	0
CD163L1	283316	broad.mit.edu	37	12	7551065	7551065	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:7551065C>T	ENST00000313599.3	-	7	1581	c.1524G>A	c.(1522-1524)agG>agA	p.R508R	CD163L1_ENST00000416109.2_Silent_p.R518R|CD163L1_ENST00000396630.1_Silent_p.R508R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	508	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCTGCATTCCTTGTGCTCC	0.468000													30	24					0	0	0.002836	0	0
KCNH4	23415	broad.mit.edu	37	17	40312181	40312181	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:40312181G>A	ENST00000264661.3	-	16	3263	c.2931C>T	c.(2929-2931)tcC>tcT	p.S977S	KCNH4_ENST00000607371.1_Silent_p.S977S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	977					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGGCAATATGGAAGGTCTCA	0.612000													59	12					0	0	0.003610	0	0
HERC1	8925	broad.mit.edu	37	15	63966647	63966647	+	Silent	SNP	T	T	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:63966647T>G	ENST00000443617.2	-	38	7827	c.7740A>C	c.(7738-7740)atA>atC	p.I2580I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2580					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATGCTCTCTTTATGGGTGACC	0.488000													8	25					0	0	0.004482	0	0
ADORA2B	136	broad.mit.edu	37	17	15878080	15878080	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:15878080C>A	ENST00000304222.2	+	2	755	c.423C>A	c.(421-423)ttC>ttA	p.F141L		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	141					activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGACTCCATTCCTGGGGTGGA	0.502000													30	15					5.45727e-16	8.39472e-16	0.008361	1	0
PAXBP1	94104	broad.mit.edu	37	21	34117948	34117948	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:34117948C>T	ENST00000331923.4	-	12	2194	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D669N	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TCTACATCATCTTTTTCTTGC	0.378000													33	30					0	0	0.002445	0	0
USP43	124739	broad.mit.edu	37	17	9631771	9631771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:9631771C>T	ENST00000570827.2	+	15	2977	c.1903C>T	c.(1903-1905)Cga>Tga	p.R635*	USP43_ENST00000285199.6_Nonsense_Mutation_p.R946*|USP43_ENST00000570475.1_Nonsense_Mutation_p.R941*			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	946					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAAACCAGCTCGACCGGAGGG	0.527000													5	6					0	0	0.000602	0	0
RGS7	6000	broad.mit.edu	37	1	240979694	240979694	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:240979694C>T	ENST00000366565.1	-	11	1087	c.706G>A	c.(706-708)Gat>Aat	p.D236N	RGS7_ENST00000366563.1_Missense_Mutation_p.D236N|RGS7_ENST00000401882.1_Missense_Mutation_p.D183N|RGS7_ENST00000407727.1_Missense_Mutation_p.D236N|RGS7_ENST00000348120.2_Missense_Mutation_p.D183N|RGS7_ENST00000446183.2_Missense_Mutation_p.D152N|RGS7_ENST00000331110.7_Missense_Mutation_p.D210N|RGS7_ENST00000366564.1_Missense_Mutation_p.D236N|RGS7_ENST00000366562.4_Missense_Mutation_p.D236N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	236					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTCTAATATCATTTTGTAAA	0.353000													37	57					0	0	0.004878	0	0
SMCHD1	23347	broad.mit.edu	37	18	2700607	2700607	+	Silent	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:2700607T>C	ENST00000320876.6	+	11	1751	c.1413T>C	c.(1411-1413)atT>atC	p.I471I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.I471I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	471					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAGGCCTATTTTTGAATGTT	0.303000													6	13					0	0	0.003080	0	0
MYOM2	9172	broad.mit.edu	37	8	2046768	2046768	+	Missense_Mutation	SNP	C	C	T	rs112847331		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:2046768C>T	ENST00000262113.4	+	19	2536	c.2395C>T	c.(2395-2397)Ccc>Tcc	p.P799S	MYOM2_ENST00000523438.1_Missense_Mutation_p.P224S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	799	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCCCTCAGATCCCAGTGAGCA	0.612000													10	16					0	0	0.001368	0	0
GABRE	2564	broad.mit.edu	37	X	151123221	151123221	+	Silent	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:151123221A>T	ENST00000370328.3	-	9	1526	c.1473T>A	c.(1471-1473)acT>acA	p.T491T	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	491					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)					AGAAGAAGAAAGTCACTGGGA	0.542000													14	10					0	0	0.002450	0	0
LEKR1	389170	broad.mit.edu	37	3	156742570	156742570	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:156742570G>A	ENST00000470811.1	+	12	1648	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	LEKR1_ENST00000356539.4_Missense_Mutation_p.E409K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	113										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTTGCCAAGGAAAGGGCCCA	0.323000													7	29					0	0	0.006214	0	0
CCDC54	84692	broad.mit.edu	37	3	107096542	107096542	+	Silent	SNP	G	G	A	rs141662259	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:107096542G>A	ENST00000261058.1	+	1	355	c.108G>A	c.(106-108)aaG>aaA	p.K36K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	36										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ACAAATGTAAGATTCGGCACC	0.403000													12	70					0	0	0.001368	0	0
GPC2	221914	broad.mit.edu	37	7	99773255	99773255	+	Silent	SNP	G	G	A	rs142847181	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:99773255G>A	ENST00000292377.2	-	3	755	c.588C>T	c.(586-588)gcC>gcT	p.A196A		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	196						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGTAGATGAGGCCAAGCGTG	0.627000													4	19					0	0	0.000248	0	0
TNXB	7148	broad.mit.edu	37	6	32038123	32038123	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32038123G>A	ENST00000375244.3	-	14	5260	c.5059C>T	c.(5059-5061)Cca>Tca	p.P1687S	TNXB_ENST00000375247.2_Missense_Mutation_p.P1687S			P22105	TENX_HUMAN	tenascin XB	1769	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGTGAGTCTGGGGTGGGGTCT	0.612000													81	188					0	0	0.003610	0	0
CDC25C	995	broad.mit.edu	37	5	137654975	137654975	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:137654975C>T	ENST00000323760.6	-	7	826	c.548G>A	c.(547-549)gGa>gAa	p.G183E	CDC25C_ENST00000514555.1_Missense_Mutation_p.G153E|CDC25C_ENST00000356505.3_Missense_Mutation_p.G153E|CDC25C_ENST00000415130.2_Missense_Mutation_p.G110E|CDC25C_ENST00000348983.3_Missense_Mutation_p.G110E|CDC25C_ENST00000513970.1_Missense_Mutation_p.G183E|CDC25C_ENST00000357274.3_Missense_Mutation_p.G140E	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	183					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGGTCTTCTCCTAGGTTTGG	0.373000													26	14					0	0	0.004656	0	0
TTC31	64427	broad.mit.edu	37	2	74718726	74718726	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:74718726C>T	ENST00000410003.1	+	8	812	c.803C>T	c.(802-804)gCc>gTc	p.A268V	TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Intron|TTC31_ENST00000233623.5_Missense_Mutation_p.A268V			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	268							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGGGGTCTGGCCCTCCAGAAG	0.582000													38	42					0	0	0.003755	0	0
PLD2	5338	broad.mit.edu	37	17	4725982	4725982	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:4725982C>T	ENST00000263088.6	+	25	2756	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L	PLD2_ENST00000572940.1_Silent_p.L864L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	875					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TGCGGACTCTCCGGGAGTACG	0.657000													27	17					0	0	0.002445	0	0
DPP4	1803	broad.mit.edu	37	2	162894889	162894889	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:162894889T>C	ENST00000360534.3	-	8	1096	c.536A>G	c.(535-537)aAt>aGt	p.N179S		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	179					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ACTTGGTAAATTTGGTTCAAT	0.299000													15	22					0	0	0.003163	0	0
BTBD3	22903	broad.mit.edu	37	20	11903450	11903450	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:11903450C>T	ENST00000405977.1	+	5	1330	c.705C>T	c.(703-705)ttC>ttT	p.F235F	BTBD3_ENST00000399006.2_Silent_p.F174F|BTBD3_ENST00000254977.3_Silent_p.F174F|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000378226.2_Silent_p.F235F			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	235										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GCTGCCTGTTCGAGGAGCCAG	0.547000													13	27					0	0	0.001855	0	0
RP1	6101	broad.mit.edu	37	8	55539794	55539794	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:55539794C>T	ENST00000220676.1	+	4	3500	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1118					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTCCCTTTCATTCTGCAAT	0.423000													17	21					0	0	0.008871	0	0
VWA2	340706	broad.mit.edu	37	10	116032655	116032655	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:116032655G>A	ENST00000603594.1	+	6	849	c.528G>A	c.(526-528)agG>agA	p.R176R	VWA2_ENST00000392982.3_Silent_p.R176R	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	176	VWFA 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TGAAGGAAAGGGGTGTCACTG	0.582000													9	15					0	0	0.001368	0	0
CDHR2	54825	broad.mit.edu	37	5	176011632	176011632	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:176011632G>A	ENST00000510636.1	+	19	2624	c.2350G>A	c.(2350-2352)Gac>Aac	p.D784N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D784N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D784N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	784	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGAGAACCCAGACCCCCAGGG	0.617000													25	11					0	0	0.004656	0	0
ADRA2B	151	broad.mit.edu	37	2	96781764	96781764	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:96781764G>A	ENST00000409345.3	-	1	220	c.125C>T	c.(124-126)tCg>tTg	p.S42L		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	42					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCGCGCAGCGAGCGGCTGGT	0.637000													10	11					0	0	0.006214	0	0
FAM41C	284593	broad.mit.edu	37	1	809736	809736	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:809736C>T	ENST00000446136.1	-	0	957					NR_027055.1																						CTAGAATTTTCCTTTTCTAGG	0.483000													30	35					0	0	0.006320	0	0
GCOM1	145781	broad.mit.edu	37	15	57913897	57913897	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:57913897C>T	ENST00000574161.1	+	4	529	c.411_splice	c.e4+1	p.S137_splice	GCOM1_ENST00000380560.2_Intron|MYZAP_ENST00000267853.5_Splice_Site_p.S137_splice|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380568.3_Splice_Site_p.S137_splice|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380569.2_Splice_Site_p.S137_splice|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000572390.1_Splice_Site_p.S137_splice|MYZAP_ENST00000380565.4_Splice_Site_p.S137_splice|GCOM1_ENST00000587652.1_Splice_Site_p.S137_splice	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		137					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGGAACTATCAGTAAGTCAT	0.468000													21	65					0	0	0.002299	0	0
GPC2	221914	broad.mit.edu	37	7	99773368	99773368	+	Silent	SNP	A	A	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:99773368A>G	ENST00000292377.2	-	3	642	c.475T>C	c.(475-477)Ttg>Ctg	p.L159L		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	159						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGTCATCCAACCCCTCACCA	0.597000													8	36					0	0	0.003080	0	0
EDAR	10913	broad.mit.edu	37	2	109546583	109546583	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:109546583G>A	ENST00000409271.1	-	4	610	c.167C>T	c.(166-168)cCc>cTc	p.P56L	EDAR_ENST00000376651.1_Missense_Mutation_p.P56L|EDAR_ENST00000258443.2_Missense_Mutation_p.P56L			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	56					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TACCAGGTAGGGCTCCTCTCC	0.637000													16	9					0	0	0.004990	0	0
DYSF	8291	broad.mit.edu	37	2	71906329	71906329	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:71906329C>T	ENST00000258104.3	+	52	6187	c.5910C>T	c.(5908-5910)ccC>ccT	p.P1970P	DYSF_ENST00000410020.3_Silent_p.P2009P|DYSF_ENST00000394120.2_Silent_p.P1971P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.P1991P|DYSF_ENST00000410041.1_Silent_p.P1988P|DYSF_ENST00000409366.1_Silent_p.P1992P|DYSF_ENST00000409762.1_Silent_p.P1987P|DYSF_ENST00000409744.1_Silent_p.P1978P|DYSF_ENST00000413539.2_Silent_p.P2001P|DYSF_ENST00000409582.3_Silent_p.P2008P|DYSF_ENST00000409651.1_Silent_p.P2002P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1970			P -> S (in LGMD2B).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGTGGCCCTGTGTAGCAG	0.512000													20	19					0	0	0.008871	0	0
KCND2	3751	broad.mit.edu	37	7	119915766	119915766	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:119915766C>T	ENST00000331113.4	+	1	2045	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	360					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCCCTGCAGCCTTCTGGTATA	0.512000													13	71					0	0	0.001855	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221029	67221029	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:67221029C>T	ENST00000314586.6	-	6	1293	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	EXOC3L1_ENST00000562887.1_5'UTR	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	351	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCAGGCTCCCCATCATTTCCT	0.607000													6	38					0	0	0.001984	0	0
ZNF208	7757	broad.mit.edu	37	19	22193595	22193595	+	Splice_Site	SNP	A	A	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22193595A>C	ENST00000397126.4	-	1	150	c.3_splice	c.e1+1	p.M1_splice	ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Splice_Site_p.M1_splice|ZNF208_ENST00000601773.1_Splice_Site_p.M1_splice	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACACTCACCATTTCTAGGCT	0.622000													11	6					0	0	0.001368	0	0
C1orf87	127795	broad.mit.edu	37	1	60499180	60499180	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:60499180G>A	ENST00000371201.3	-	7	1104	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	333							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAACGAGCGATCTTCTTTT	0.433000													34	50					0	0	0.003755	0	0
KIAA1524	57650	broad.mit.edu	37	3	108270022	108270022	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:108270022G>A	ENST00000295746.8	-	21	2768	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S	KIAA1524_ENST00000491772.1_Missense_Mutation_p.P739S	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	898						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAGTTTCTGGATTTATTTTT	0.373000													16	15					0	0	0.003163	0	0
DCC	1630	broad.mit.edu	37	18	50936947	50936947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:50936947C>T	ENST00000442544.2	+	20	3677	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	DCC_ENST00000412726.1_Nonsense_Mutation_p.R849*|DCC_ENST00000581580.1_Nonsense_Mutation_p.R656*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1021	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTATTACTTTCGAATTCAAGC	0.378000													6	30					0	0	0.001984	0	0
TCF23	150921	broad.mit.edu	37	2	27372135	27372135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:27372135G>A	ENST00000296096.5	+	1	264	c.134G>A	c.(133-135)tGg>tAg	p.W45*	TCF23_ENST00000407815.3_3'UTR	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	45					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGACCCGTGGGAAGAAAGA	0.637000													6	2					0	0	0.001168	0	0
SMOC1	64093	broad.mit.edu	37	14	70418998	70418998	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:70418998G>A	ENST00000381280.4	+	2	496	c.243G>A	c.(241-243)gtG>gtA	p.V81V	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.V81V	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	81	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCCTGGGCGTGGTGCATCGAG	0.602000													24	14					0	0	0.005443	0	0
PI16	221476	broad.mit.edu	37	6	36927080	36927080	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:36927080G>A	ENST00000373674.3	+	2	659	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	111						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACGAGCGTGAGCACTACAA	0.706000													5	9					0	0	0.001984	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525643	176525643	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:176525643C>T	ENST00000367662.3	+	2	1349	c.185C>T	c.(184-186)tCt>tTt	p.S62F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S62F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	62					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGAGCTTCTCCACAGCAT	0.557000													7	74					0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13931261	13931261	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:13931261C>T	ENST00000265104.4	-	2	254	c.150G>A	c.(148-150)ctG>ctA	p.L50L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	50	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGGTTTTGTTCAGGTCCAAAC	0.473000									Kartagener syndrome				35	13					0	0	0.005524	0	0
IBTK	25998	broad.mit.edu	37	6	82924513	82924513	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:82924513G>A	ENST00000306270.7	-	12	2184	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	IBTK_ENST00000510291.1_Silent_p.S545S|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	545					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTCAAAAAAGGATGATGAGG	0.373000													31	19					0	0	0.003755	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591073	234591073	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:234591073C>T	ENST00000373426.3	+	1	490	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		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;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTTCTCCCTCCCCTCTGTGGT	0.448000													41	90					0	0	0.003610	0	0
SCGN	10590	broad.mit.edu	37	6	25670232	25670232	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:25670232C>T	ENST00000377961.2	+	6	567	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	133	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CACAGAACTTCCTCCGAGACC	0.398000													78	218					0	0	0.003610	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282952	105282952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:105282952G>A	ENST00000258538.3	-	4	866	c.739C>T	c.(739-741)Cag>Tag	p.Q247*		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	247						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ACTGTTGCCTGAACCTAAAAT	0.313000													23	16					0	0	0.003330	0	0
SPSB1	80176	broad.mit.edu	37	1	9416449	9416449	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:9416449C>T	ENST00000328089.6	+	2	840	c.499C>T	c.(499-501)Cca>Tca	p.P167S	SPSB1_ENST00000377399.2_Missense_Mutation_p.P167S|SPSB1_ENST00000357898.3_Missense_Mutation_p.P167S	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	167	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTCTGGAACCAGATGAGAC	0.562000													15	74					0	0	0.003163	0	0
GBP6	163351	broad.mit.edu	37	1	89846169	89846169	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:89846169G>A	ENST00000370456.4	+	6	943	c.850G>A	c.(850-852)Gga>Aga	p.G284R	GBP6_ENST00000535065.1_Missense_Mutation_p.G154R	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	284							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CCTCAGGGAGGGAATCACAGT	0.403000													4	18					0	0	0.000602	0	0
ADCY8	114	broad.mit.edu	37	8	131848603	131848603	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:131848603C>T	ENST00000286355.5	-	12	4687	c.2595G>A	c.(2593-2595)atG>atA	p.M865I	ADCY8_ENST00000377928.3_Missense_Mutation_p.M734I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	865					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.M865I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGATGGCAATCATGATCAGCA	0.547000										HNSCC(32;0.087)			29	17					0	0	0.005443	0	0
IGSF9	57549	broad.mit.edu	37	1	159900224	159900224	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:159900224G>A	ENST00000368094.1	-	15	2016	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	IGSF9_ENST00000361509.3_Missense_Mutation_p.P591S|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	607						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCGTGGTAGGAAGCCCTGCG	0.662000													18	38					0	0	0.002299	0	0
CNGB1	1258	broad.mit.edu	37	16	57992359	57992359	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:57992359C>T	ENST00000564448.1	-	11	834	c.774G>A	c.(772-774)gaG>gaA	p.E258E	CNGB1_ENST00000311183.4_Silent_p.E264E|CNGB1_ENST00000251102.8_Silent_p.E264E			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	264					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAAGGCCATCTCCAGCCTGT	0.622000													16	28					0	0	0.006122	0	0
ACACA	31	broad.mit.edu	37	17	35615257	35615257	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:35615257G>A	ENST00000353139.5	-	13	2020	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	ACACA_ENST00000335166.5_Silent_p.I398I|ACACA_ENST00000394406.2_Silent_p.I476I|ACACA_ENST00000360679.3_Silent_p.I418I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	476	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACATCATACGGATATCCTTGA	0.418000													37	13					0	0	0.005524	0	0
DGKE	8526	broad.mit.edu	37	17	54912461	54912461	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:54912461C>T	ENST00000284061.3	+	2	485	c.305C>T	c.(304-306)gCc>gTc	p.A102V	C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR|DGKE_ENST00000572810.1_Missense_Mutation_p.A102V	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	102					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CTCAGGAAGGCCGACAAGCGC	0.647000													39	9					0	0	0.005524	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339188	25339188	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:25339188C>T	ENST00000546682.1	+	0	1110				SNHG14_ENST00000549804.2_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						GTGCATGGATCGATGATGACT	0.423000													22	35					0	0	0.002780	0	0
FRY	10129	broad.mit.edu	37	13	32821520	32821520	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:32821520C>T	ENST00000380250.3	+	48	7385	c.6889C>T	c.(6889-6891)Ctt>Ttt	p.L2297F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTCAGCCAGCCTTGTTTTACC	0.408000													29	20					0	0	0.003755	0	0
WFS1	7466	broad.mit.edu	37	4	6303033	6303033	+	Missense_Mutation	SNP	C	C	A	rs28937892		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:6303033C>A	ENST00000226760.1	+	8	1681	c.1511C>A	c.(1510-1512)cCg>cAg	p.P504Q	WFS1_ENST00000503569.1_Missense_Mutation_p.P504Q	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	504			P -> L (in WFS; dbSNP:rs28937892).		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GTCAGCGTCCCGTGCCTGCTC	0.582000													13	476					0.00185496	0.00282872	0.001855	1	0
FLG	2312	broad.mit.edu	37	1	152279060	152279060	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152279060C>T	ENST00000368799.1	-	3	8337	c.8302G>A	c.(8302-8304)Gag>Aag	p.E2768K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2768	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)			TGTGCCTGCTCATGGCGGGAT	0.582000									Ichthyosis				53	413					0	0	0.003610	0	0
FANCI	55215	broad.mit.edu	37	15	89836049	89836049	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:89836049C>T	ENST00000310775.7	+	21	2209	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	FANCI_ENST00000300027.8_Missense_Mutation_p.S708F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	708					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATATTGGAGTCCATTACTAAT	0.413000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	79					0	0	0.002450	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184932	32184932	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32184932G>T	ENST00000375023.3	-	10	1874	c.1736C>A	c.(1735-1737)cCa>cAa	p.P579Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	579	EGF-like 14; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGTTTACCTGGGAGACACTT	0.612000													8	306					0.00307968	0.00468681	0.003080	1	0
MARCH9	92979	broad.mit.edu	37	12	58152599	58152599	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:58152599C>T	ENST00000266643.5	+	4	1391	c.960C>T	c.(958-960)ctC>ctT	p.L320L	MARCH9_ENST00000548358.1_Silent_p.L207L	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	320						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCTTGCACCTCCTTGGGCAGC	0.652000													4	22					0	0	0.000602	0	0
PIWIL2	55124	broad.mit.edu	37	8	22168740	22168740	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:22168740C>T	ENST00000356766.6	+	16	2064	c.1916C>T	c.(1915-1917)cCg>cTg	p.P639L	PIWIL2_ENST00000454009.2_Missense_Mutation_p.P639L|PIWIL2_ENST00000521356.1_Missense_Mutation_p.P639L	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	639					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATGAGCCCACCGGCCTGGGTT	0.453000													45	61					0	0	0.003610	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177138	70177138	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:70177138C>T	ENST00000377420.1	-	1	1677	c.846G>A	c.(844-846)ccG>ccA	p.P282P		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	282					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						CTGCTTTCTTCGGTGCCCCGG	0.677000													13	47					0	0	0.002445	0	0
BTLA	151888	broad.mit.edu	37	3	112218146	112218146	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:112218146G>A	ENST00000334529.5	-	1	262	c.60C>T	c.(58-60)atC>atT	p.I20I	BTLA_ENST00000383680.4_Silent_p.I20I	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	20					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CCAGATATGGGATTAAGAAGA	0.433000													10	26					0	0	0.006214	0	0
VAT1L	57687	broad.mit.edu	37	16	77918577	77918577	+	Silent	SNP	T	T	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:77918577T>C	ENST00000302536.2	+	7	1108	c.955T>C	c.(955-957)Tta>Cta	p.L319L		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	319							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTTTTCCCTTTTAAATCTGCT	0.507000													11	10					0	0	0.008291	0	0
ZAK	51776	broad.mit.edu	37	2	174130904	174130904	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:174130904C>T	ENST00000375213.3	+	20	1907	c.1829C>T	c.(1828-1830)tCc>tTc	p.S610F	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.S610F	NM_016653.2	NP_057737.2																					GGCCAGGATTCCTACGCTGCT	0.517000													13	15					0	0	0.001855	0	0
RSPO1	284654	broad.mit.edu	37	1	38079859	38079859	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:38079859G>A	ENST00000356545.2	-	6	1220	c.433C>T	c.(433-435)Cct>Tct	p.P145S	RSPO1_ENST00000401070.1_Missense_Mutation_p.P145S|RSPO1_ENST00000373059.1_Missense_Mutation_p.P118S|RSPO1_ENST00000401068.1_Missense_Mutation_p.P145S|RSPO1_ENST00000401071.2_Missense_Mutation_p.P145S|RSPO1_ENST00000401069.1_Missense_Mutation_p.P145S	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	145					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTTACCAGGACTACTGCAC	0.632000													9	7					0	0	0.004482	0	0
MED23	9439	broad.mit.edu	37	6	131937093	131937093	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:131937093G>A	ENST00000403834.3	-	10	1003	c.830C>T	c.(829-831)cCt>cTt	p.P277L	MED23_ENST00000354577.4_Missense_Mutation_p.P277L|MED23_ENST00000368053.4_Missense_Mutation_p.P277L|MED23_ENST00000540546.1_Missense_Mutation_p.P277L|MED23_ENST00000368060.3_Missense_Mutation_p.P277L|MED23_ENST00000368058.1_Missense_Mutation_p.P277L|MED23_ENST00000539158.1_Missense_Mutation_p.P277L|MED23_ENST00000368068.3_Missense_Mutation_p.P277L			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	277					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCTGGAATAAGGCTGCTCCAA	0.353000													21	7					0	0	0.004656	0	0
DNAH17	8632	broad.mit.edu	37	17	76497833	76497833	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:76497833G>A	ENST00000389840.5	-	34	5404	c.5280_splice	c.e34+1	p.I1760_splice	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Silent_p.I1768I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTTGGCCACGATCATTTTGG	0.612000													83	20					0	0	0.003610	0	0
AIFM3	150209	broad.mit.edu	37	22	21330536	21330536	+	Silent	SNP	C	C	T	rs141390776		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:21330536C>T	ENST00000399167.2	+	10	1080	c.840C>T	c.(838-840)gtC>gtT	p.V280V	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.V280V|AIFM3_ENST00000335375.5_Silent_p.V268V|AIFM3_ENST00000405089.1_Silent_p.V286V|AIFM3_ENST00000399163.2_Silent_p.V280V|AIFM3_ENST00000440238.2_Silent_p.V280V	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTAAGAAGGTCGTGTTCAAGG	0.612000													21	28					0	0	0.002780	0	0
LRP5	4041	broad.mit.edu	37	11	68153787	68153787	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:68153787C>T	ENST00000294304.7	+	6	1125	c.1019C>T	c.(1018-1020)gCc>gTc	p.A340V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	340					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCACAGGAGCCGAGGAGGTG	0.662000													17	12					0	0	0.006122	0	0
XKR4	114786	broad.mit.edu	37	8	56015501	56015501	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:56015501C>T	ENST00000327381.5	+	1	553	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	151						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGCTCTTCTTCGTGGTGCTCG	0.652000													16	23					0	0	0.004990	0	0
LEPREL1	55214	broad.mit.edu	37	3	189702340	189702340	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:189702340G>A	ENST00000319332.5	-	7	1425	c.1229_splice	c.e7+1	p.R410_splice	LEPREL1_ENST00000427335.2_Splice_Site_p.R229_splice	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	410					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGACTTACCGATTCTCATCC	0.343000													19	68					0	0	0.001882	0	0
HCN1	348980	broad.mit.edu	37	5	45262779	45262779	+	Silent	SNP	G	G	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:45262779G>T	ENST00000303230.4	-	8	1974	c.1917C>A	c.(1915-1917)atC>atA	p.I639I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	639						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAGGATAATTGATGGGAGCGA	0.498000													33	50					1.69901e-12	2.61219e-12	0.005524	1	0
CLEC3A	10143	broad.mit.edu	37	16	78064434	78064434	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:78064434C>A	ENST00000299642.4	+	3	402	c.317C>A	c.(316-318)tCc>tAc	p.S106Y	CLEC3A_ENST00000575655.1_Missense_Mutation_p.S97Y|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	97	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GACTGCATTTCCAAAGGAGGA	0.473000													28	32					5.61819e-17	8.6467e-17	0.005443	1	0
MPPED2	744	broad.mit.edu	37	11	30439117	30439117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:30439117C>T	ENST00000448418.2	-	5	960	c.600G>A	c.(598-600)tgG>tgA	p.W200*	MPPED2_ENST00000358117.5_Nonsense_Mutation_p.W200*|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	200					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GGATGAGGTTCCACTTGTCCA	0.498000													17	8					0	0	0.001523	0	0
ELMO1	9844	broad.mit.edu	37	7	37262237	37262237	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:37262237G>A	ENST00000310758.4	-	10	1410	c.763C>T	c.(763-765)Cct>Tct	p.P255S	ELMO1_ENST00000442504.1_Missense_Mutation_p.P255S|ELMO1_ENST00000448602.1_Missense_Mutation_p.P255S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	255					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTCTCATCAGGAGCCTTCAGG	0.428000													20	74					0	0	0.002299	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138969	126138969	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:126138969C>T	ENST00000299308.3	+	9	2958	c.2950C>T	c.(2950-2952)Ctt>Ttt	p.L984F	TMEM132B_ENST00000535886.1_Missense_Mutation_p.L496F	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	984						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAGGAACTTCCTTCTGAATGG	0.433000													5	16					0	0	0.000602	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142489	18142489	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:18142489C>T	ENST00000278816.2	+	6	1358	c.708C>T	c.(706-708)ccC>ccT	p.P236P	CSRP2BP_ENST00000435364.2_Silent_p.P236P|CSRP2BP_ENST00000489634.2_Silent_p.P108P|CSRP2BP_ENST00000377681.2_Silent_p.P235P			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	236					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CTTTAGATCCCATCATTACTG	0.413000													18	32					0	0	0.007413	0	0
LRP1B	53353	broad.mit.edu	37	2	141641523	141641523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:141641523C>T	ENST00000389484.3	-	25	5003	c.4032G>A	c.(4030-4032)tgG>tgA	p.W1344*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1344					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)		TTCCTGCTATCCAGTCGACTG	0.488000										TSP Lung(27;0.18)			39	58					0	0	0.002522	0	0
MORC4	79710	broad.mit.edu	37	X	106185956	106185956	+	Missense_Mutation	SNP	C	C	G	rs149926328		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:106185956C>G	ENST00000355610.4	-	15	2439	c.2165G>C	c.(2164-2166)cGa>cCa	p.R722P	MORC4_ENST00000535534.1_Missense_Mutation_p.R470P|MORC4_ENST00000255495.7_Missense_Mutation_p.R722P	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	722							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AACTGCTTTTCGTCTCTCAGC	0.512000													41	26					0	0	0.006999	0	0
CCDC60	160777	broad.mit.edu	37	12	119960745	119960745	+	Splice_Site	SNP	G	G	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:119960745G>C	ENST00000327554.2	+	10	1507	c.1040_splice	c.e10-1	p.E348_splice	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	348										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTGTTTCAGTGAGAGATCCAG	0.498000													73	95					0	0	0.003610	0	0
UNC45B	146862	broad.mit.edu	37	17	33479972	33479972	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:33479972G>A	ENST00000268876.5	+	5	539	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	UNC45B_ENST00000433649.1_Missense_Mutation_p.E148K|UNC45B_ENST00000591048.1_Missense_Mutation_p.E148K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E148K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E148K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	148					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCTCTTGGATGAAAACAGTGA	0.572000													60	24					0	0	0.003610	0	0
CALCR	799	broad.mit.edu	37	7	93090161	93090161	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:93090161G>A	ENST00000359558.2	-	10	1021	c.722C>T	c.(721-723)cCc>cTc	p.P241L	CALCR_ENST00000394441.1_Missense_Mutation_p.P207L|CALCR_ENST00000426151.1_Missense_Mutation_p.P207L|CALCR_ENST00000360249.4_Missense_Mutation_p.P223L|CALCR_ENST00000421592.1_Missense_Mutation_p.P223L	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	223					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CTCTCCATTGGGTACTACTTC	0.403000													17	57					0	0	0.004990	0	0
TDRD5	163589	broad.mit.edu	37	1	179620094	179620094	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:179620094C>T	ENST00000444136.1	+	12	2143	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	TDRD5_ENST00000367614.1_Silent_p.I631I|TDRD5_ENST00000294848.8_Silent_p.I631I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	631					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGATGGAATCCTTAACATTT	0.403000													44	28					0	0	0.003610	0	0
MYH6	4624	broad.mit.edu	37	14	23868226	23868226	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:23868226G>A	ENST00000405093.3	-	15	1672	c.1602C>T	c.(1600-1602)atC>atT	p.I534I	MYH6_ENST00000356287.3_Silent_p.I534I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	534	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCCTCCAGGATGGACATGA	0.552000													23	13					0	0	0.003330	0	0
MUC17	140453	broad.mit.edu	37	7	100680060	100680060	+	Missense_Mutation	SNP	C	C	T	rs145956810	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100680060C>T	ENST00000306151.4	+	3	5427	c.5363C>T	c.(5362-5364)tCg>tTg	p.S1788L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1788	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S1788L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCACTTCGTCTCCTACA	0.537000													159	124					0	0	0.003610	0	0
USP26	83844	broad.mit.edu	37	X	132160170	132160170	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:132160170G>A	ENST00000511190.1	-	6	2548	c.2079C>T	c.(2077-2079)ccC>ccT	p.P693P	USP26_ENST00000406273.1_Silent_p.P693P|USP26_ENST00000370832.1_Silent_p.P693P	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	693					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)					TTGGATTTTCGGGCACTGTTT	0.383000													31	19					0	0	0.001786	0	0
ABCC11	85320	broad.mit.edu	37	16	48231937	48231937	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:48231937C>T	ENST00000394747.1	-	16	2608	c.2259G>A	c.(2257-2259)aaG>aaA	p.K753K	ABCC11_ENST00000394748.1_Silent_p.K753K|ABCC11_ENST00000356608.2_Silent_p.K753K|ABCC11_ENST00000353782.5_Silent_p.K753K|ABCC11_ENST00000537808.1_Intron	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	753						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GACTTTCTACCTTTGGCTTCT	0.552000													24	27					0	0	0.003330	0	0
ZNF311	282890	broad.mit.edu	37	6	28963143	28963143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28963143G>A	ENST00000377179.3	-	7	2148	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R546*(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGAATTCTTCGATGATTGGTC	0.453000													25	41					0	0	0.001786	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902817	4902817	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:4902817G>A	ENST00000381781.2	-	1	62	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	21					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GCACTAATTCGATCGACTTCA	0.547000													25	14					0	0	0.003954	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935886	151935886	+	Missense_Mutation	SNP	C	C	T	rs145513270	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:151935886C>T	ENST00000393902.3	-	3	848	c.281G>A	c.(280-282)gGg>gAg	p.G94E	MAGEA3_ENST00000370278.3_Missense_Mutation_p.G94E			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	94										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTTGGCCCCTCCTCTTC	0.577000													25	23					0	0	0.008361	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332633	22332633	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:22332633C>T	ENST00000558896.1	+	0	440																											TATGCCTAAGCTGTGTTACTC	0.448000													7	63					0	0	0.001984	0	0
OR8B4	283162	broad.mit.edu	37	11	124293853	124293853	+	Silent	SNP	C	C	T	rs151274125		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:124293853C>T	ENST00000356130.3	-	1	936	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGAGCACTCTCTTCAGGGTTT	0.423000													9	14					0	0	0.000978	0	0
NPSR1	387129	broad.mit.edu	37	7	34889188	34889188	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:34889188C>T	ENST00000360581.1	+	9	1165	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381539.3_Silent_p.I379I|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.S280L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	346						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAGCAAAGATCACAGGATTCC	0.438000													59	44					0	0	0.003610	0	0
IL16	3603	broad.mit.edu	37	15	81592524	81592524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:81592524C>T	ENST00000394660.2	+	14	3217	c.2857C>T	c.(2857-2859)Caa>Taa	p.Q953*	IL16_ENST00000394652.2_Nonsense_Mutation_p.Q252*|IL16_ENST00000302987.4_Nonsense_Mutation_p.Q953*	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	953					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGAGGAATCTCAAGGCCCAGT	0.612000													13	13					0	0	0.001855	0	0
DMBT1	1755	broad.mit.edu	37	10	124345822	124345822	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:124345822A>T	ENST00000368909.3	+	16	1812	c.1706A>T	c.(1705-1707)tAc>tTc	p.Y569F	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y559F|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.Y559F|DMBT1_ENST00000338354.3_Missense_Mutation_p.Y569F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	569	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AATGAGTCCTACTTGTGGAGC	0.587000													24	47					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179393049	179393049	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179393049T>A	ENST00000589042.1	-	361	107553	c.107329A>T	c.(107329-107331)Aaa>Taa	p.K35777*	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.K34136*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.K26712*|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.K26837*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.K26904*|TTN_ENST00000342992.6_Nonsense_Mutation_p.K33209*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34136							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)			CGGAAATTTTTGGCCTTAATT	0.423000													11	34					0	0	0.000978	0	0
SLIT1	6585	broad.mit.edu	37	10	98764533	98764533	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:98764533G>A	ENST00000266058.4	-	33	3872	c.3627C>T	c.(3625-3627)aaC>aaT	p.N1209N	SLIT1_ENST00000371070.4_Silent_p.N1209N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1209	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAATGTGGTCGTTGTCCCCGT	0.592000													5	48					0	0	0.000602	0	0
CTD-2587H24.4	0	broad.mit.edu	37	19	55670924	55670924	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55670924C>T	ENST00000587871.1	-	3	198	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	DNAAF3_ENST00000527223.2_Silent_p.G472G|DNAAF3_ENST00000391720.4_Silent_p.G452G|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000524407.2_Silent_p.G405G|DNAAF3_ENST00000455045.1_Silent_p.G351G|CTD-2587H24.5_ENST00000591665.1_RNA																							CAATCAAGTTCCCTCCGGGTG	0.587000													40	27					0	0	0.003610	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473351	22473351	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:22473351C>T	ENST00000557788.2	-	0	2																											ACAGGTGTTTCATGTTCTTGT	0.512000													10	25					0	0	0.000978	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115732	131115732	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:131115732C>T	ENST00000300456.3	+	9	1353	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	412					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCCTGTCCTTCGTGTACCCCA	0.617000													46	22					0	0	0.003610	0	0
C3	718	broad.mit.edu	37	19	6707832	6707832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:6707832G>A	ENST00000245907.6	-	15	2046	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	652					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCGGTCTGCTGGCCACTGCTG	0.662000													29	21					0	0	0.002096	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302774	15302774	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:15302774G>A	ENST00000263388.2	-	4	751	c.676C>T	c.(676-678)Cct>Tct	p.P226S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	226	EGF-like 5.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P226S(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACTCACCAGGAAGACAGGCA	0.642000													13	8					0	0	0.002450	0	0
BAZ2B	29994	broad.mit.edu	37	2	160310159	160310159	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:160310159G>A	ENST00000392783.2	-	4	794	c.299C>T	c.(298-300)gCc>gTc	p.A100V	BAZ2B_ENST00000355831.2_Missense_Mutation_p.A100V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A100V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A100V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGCGGCTAAGGCTGTGGGTGT	0.478000													5	34					0	0	0.001168	0	0
DCDC2	51473	broad.mit.edu	37	6	24278393	24278393	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:24278393G>A	ENST00000378454.3	-	7	1107	c.806C>T	c.(805-807)tCa>tTa	p.S269L		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	269					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CTGAGGAGATGAGTTGTCACT	0.358000													27	71					0	0	0.007291	0	0
KRT7	3855	broad.mit.edu	37	12	52635367	52635367	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:52635367G>A	ENST00000331817.5	+	5	988	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	269	Coil 2.|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)		GGCGCAGTATGAGGAGATGGC	0.607000													15	10					0	0	0.003163	0	0
RHCE	6006	broad.mit.edu	37	1	25715555	25715555	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:25715555G>A	ENST00000349320.3	-	8	1191	c.803C>T	c.(802-804)tCg>tTg	p.S268L	RHCE_ENST00000374352.2_Missense_Mutation_p.S268L|RHCE_ENST00000294413.7_Missense_Mutation_p.S284L|RHCE_ENST00000425135.1_Intron|RHCE_ENST00000340849.4_Missense_Mutation_p.S179L|RHCE_ENST00000349438.4_Missense_Mutation_p.S284L|RHCE_ENST00000455194.1_Missense_Mutation_p.S179L|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Missense_Mutation_p.S284L|RHCE_ENST00000243186.6_Missense_Mutation_p.S284L			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	284						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTGACACGAGGTACCCAC	0.567000													17	17					0	0	0.002780	0	0
CST11	140880	broad.mit.edu	37	20	23433416	23433416	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:23433416G>A	ENST00000377009.3	-	1	66	c.33C>T	c.(31-33)ctC>ctT	p.L11L	CST11_ENST00000377007.3_Silent_p.L11L	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	11					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGGCCAACAGGAGCTGTAGGG	0.512000													5	18					0	0	0.000602	0	0
DDX11	1663	broad.mit.edu	37	12	31236788	31236788	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:31236788C>T	ENST00000251758.5	+	3	437	c.186C>T	c.(184-186)ctC>ctT	p.L62L	DDX11_ENST00000407793.2_Silent_p.L62L|DDX11_ENST00000542838.1_Silent_p.L62L|DDX11_ENST00000228264.6_Silent_p.L36L|DDX11_ENST00000545668.1_Silent_p.L62L|DDX11_ENST00000350437.4_Silent_p.L62L			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	62	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			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)					TCTCTTGGCTCCGTGACTTTG	0.458000										Multiple Myeloma(12;0.14)			35	73					0	0	0.004289	0	0
CACNB4	785	broad.mit.edu	37	2	152739857	152739857	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:152739857G>A	ENST00000360283.6	-	2	330	c.73C>T	c.(73-75)Ccg>Tcg	p.P25S	CACNB4_ENST00000397327.2_Missense_Mutation_p.P12S|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000427385.1_Missense_Mutation_p.P41S|CACNB4_ENST00000201943.5_Missense_Mutation_p.P59S|CACNB4_ENST00000534999.1_Missense_Mutation_p.P25S|CACNB4_ENST00000539935.1_Missense_Mutation_p.P59S			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	59					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GAGTCAGACGGCCTGCTTGTG	0.468000													40	40					0	0	0.003610	0	0
HLA-C	3107	broad.mit.edu	37	6	31237827	31237827	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31237827T>A	ENST00000383329.3	-	5	945	c.931A>T	c.(931-933)Atc>Ttc	p.I311F	HLA-C_ENST00000376228.5_Missense_Mutation_p.I311F			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	311					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCAGCAACGATGCCCATGATG	0.612000													25	29					0	0	0.003954	0	0
RP1L1	94137	broad.mit.edu	37	8	10469422	10469422	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:10469422G>A	ENST00000382483.3	-	4	2409	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	729					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)		AAGGTCCTGGGAAGGAAGAGA	0.607000													7	20					0	0	0.003080	0	0
PKD1L2	114780	broad.mit.edu	37	16	81145855	81145855	+	RNA	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:81145855C>T	ENST00000534142.1	-	0	1284				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGCCGTGATCATGTTCATTT	0.532000													50	64					0	0	0.003610	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:22369378C>T	ENST00000332663.2	+	1	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000													7	66					0	0	0.003080	0	0
MMRN1	22915	broad.mit.edu	37	4	90816651	90816651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:90816651C>T	ENST00000394980.1	+	2	848	c.529C>T	c.(529-531)Cga>Tga	p.R177*	MMRN1_ENST00000264790.2_Nonsense_Mutation_p.R177*|MMRN1_ENST00000394981.1_Nonsense_Mutation_p.R143*			Q13201	MMRN1_HUMAN	multimerin 1	177					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		cGTGGGAAATCGAGCCCCACG	0.493000													6	30					0	0	0.001984	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073120	17073120	+	Silent	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:17073120G>A	ENST00000359963.3	-	1	580	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	107					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.F107F(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGAACCACGAAGGCTGTGC	0.662000													8	17					0	0	0.006214	0	0
C1orf127	148345	broad.mit.edu	37	1	11017713	11017713	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11017713G>A	ENST00000377004.4	-	7	652	c.653C>T	c.(652-654)aCc>aTc	p.T218I	C1orf127_ENST00000377008.4_Missense_Mutation_p.T69I	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	69										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCTTTGGACGGTGACAGTGGT	0.607000													9	47					0	0	0.006214	0	0
GRP	2922	broad.mit.edu	37	18	56892918	56892918	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:56892918G>A	ENST00000256857.2	+	2	432	c.334G>A	c.(334-336)Gat>Aat	p.D112N	GRP_ENST00000529320.2_Missense_Mutation_p.D112N|GRP_ENST00000420468.2_Missense_Mutation_p.D112N	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	112					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GCCTTCGTGGGATTCAGAGGA	0.498000													20	52					0	0	0.001523	0	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494411	25494411	+	RNA	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:25494411G>A	ENST00000365503.1	+	0	67					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						TGCTCAATAGGATTACGCTGA	0.488000													47	117					0	0	0.003610	0	0
IARS2	55699	broad.mit.edu	37	1	220316450	220316450	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:220316450C>T	ENST00000366922.1	+	21	2840	c.2509C>T	c.(2509-2511)Cct>Tct	p.P837S	IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000302637.5_Missense_Mutation_p.P909S			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	909					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTGATAGAACCTGGACTGCT	0.408000													9	45					0	0	0.004482	0	0
AMPD1	270	broad.mit.edu	37	1	115218250	115218250	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:115218250C>T	ENST00000369538.3	-	11	1714	c.1667G>A	c.(1666-1668)aGt>aAt	p.S556N	AMPD1_ENST00000520113.2_Missense_Mutation_p.S560N|AMPD1_ENST00000353928.6_Missense_Mutation_p.S527N	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	527					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGGCTTGGGACTCTTGGAGGA	0.468000													71	50					0	0	0.003610	0	0
ZNF830	91603	broad.mit.edu	37	17	33289302	33289302	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:33289302A>T	ENST00000361952.3	+	1	754	c.717A>T	c.(715-717)agA>agT	p.R239S		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	239					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TGGAAAGGAGAGAAAACACCG	0.438000													7	8					0	0	0.003080	0	0
CCDC108	255101	broad.mit.edu	37	2	219888010	219888010	+	Silent	SNP	G	G	A	rs144661790		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219888010G>A	ENST00000341552.5	-	16	2822	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	CCDC108_ENST00000453220.1_Silent_p.F913F|CCDC108_ENST00000441968.1_Silent_p.F913F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	913	MSP.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCACTCGAACTGCAGGG	0.627000													4	28					0	0	0.000248	0	0
LRRC43	254050	broad.mit.edu	37	12	122674858	122674858	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:122674858G>A	ENST00000339777.4	+	5	872	c.844G>A	c.(844-846)Gac>Aac	p.D282N	LRRC43_ENST00000425921.1_Missense_Mutation_p.D97N	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	282	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CGTGCTGGACGACATCACCGT	0.642000													11	30					0	0	0.008291	0	0
RUSC2	9853	broad.mit.edu	37	9	35555369	35555369	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:35555369C>T	ENST00000455600.1	+	3	2896	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	776						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CGGCCATCGCCCCTGGGCAGC	0.667000													35	33					0	0	0.005524	0	0
SNX31	169166	broad.mit.edu	37	8	101661507	101661507	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:101661507C>T	ENST00000311812.2	-	2	286	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	46	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTCACCTGTTCGTTCCAACCG	0.597000													12	10					0	0	0.001855	0	0
LELP1	149018	broad.mit.edu	37	1	153177315	153177315	+	Silent	SNP	C	C	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:153177315C>T	ENST00000368747.1	+	2	242	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	44	Cys/Pro-rich.							p.F44F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACGCTGTTTCGAAAAGTGCC	0.567000													27	55					0	0	0.008361	0	0
OR10K2	391107	broad.mit.edu	37	1	158389888	158389888	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158389888A>T	ENST00000314902.2	-	1	768	c.769T>A	c.(769-771)Ttt>Att	p.F257I		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AAGTAGATAAAGGAGGCACAG	0.423000													9	46					0	0	0.000978	0	0
MRPL20	55052	broad.mit.edu	37	1	1337486	1337486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:1337486delA	ENST00000344843.7	-	4	522	c.427delT	c.(427-429)ccfs	p.S143fs	MRPL20_ENST00000493287.1_5'UTR	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	143							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCACTCTGGAAAAAATGCCT	0.443													7	195	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43452413	43452426	+	Frame_Shift_Del	DEL	GCGAACTGGCACTT	GCGAACTGGCACTT	-			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:43452413_43452426delGCGAACTGGCACTT	ENST00000282388.3	-	2	810_823	c.517_530delAAGTGCCAGTTCGC	c.(517-531)gfs	p.KCQFA173fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	173	RNA-binding.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F176L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GAAGCCATGCGCGAACTGGCACTTTTCGCCGTAC	0.640													9	22	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150817	65150817	+	RNA	DEL	C	C	-			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:65150817delC	ENST00000430126.2	+	0	757																											TCATCCCTCACCCCCCCCCCC	0.468													2	4	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95083038	95083038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:95083038delC	ENST00000371501.4	-	47	5471	c.5349delG	c.(5347-5349)cgfs	p.R1783fs	MYOF_ENST00000359263.4_Frame_Shift_Del_p.R1783fs|MYOF_ENST00000371502.4_Intron|MYOF_ENST00000358334.5_Frame_Shift_Del_p.R1770fs			Q9NZM1	MYOF_HUMAN	myoferlin	1783			R -> Q (in dbSNP:rs11594445).		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						TCTTGGCTTTCCGGGGTGTGA	0.478													43	69	---	---	---	---					
ARID4A	5926	broad.mit.edu	37	14	58833673	58833673	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:58833673delA	ENST00000355431.3	+	23	3969	c.3596delA	c.(3595-3597)ttfs	p.Y1200fs	ARID4A_ENST00000348476.3_Frame_Shift_Del_p.Y1131fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.Y1131fs|ARID4A_ENST00000395168.3_Frame_Shift_Del_p.Y1146fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1200				IRKYYM -> SENIICL (in Ref. 4; no nucleotide entry).	negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCAGAAAATATTATATGTCT	0.323													37	20	---	---	---	---