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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FLT1	2321	broad.mit.edu	37	13	29041198	29041198	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr13:29041198G>A	uc001usb.3	-	2	515	c.230C>T	c.(229-231)aCt>aTt	p.T77I	FLT1_uc010aar.1_Missense_Mutation_p.T77I|FLT1_uc001usc.3_Missense_Mutation_p.T77I|FLT1_uc010tdp.1_Missense_Mutation_p.T77I|FLT1_uc001usd.3_Missense_Mutation_p.T77I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	77	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|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)	GGCAGATTTAGTTATGCTCAG	0.418000														159			7		0	0	8.12818e-05	0	0
OR6V1	346517	broad.mit.edu	37	7	142750156	142750156	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:142750156G>A	uc011ksv.2	+	0	719	c.719G>A	c.(718-720)gGg>gAg	p.G240E		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCCACTTGCGGGTCTCACCTC	0.557000														96			5		0	0	3.59834e-05	0	0
LMTK2	22853	broad.mit.edu	37	7	97822165	97822165	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:97822165C>T	uc003upd.2	+	10	2681	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	796					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATACAGATGTCATGCTCACAG	0.483000														120			7		0	0	8.12818e-05	0	0
MS4A2	2206	broad.mit.edu	37	11	59857933	59857933	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:59857933G>A	uc001nop.3	+	2	413	c.311G>A	c.(310-312)gGa>gAa	p.G104E	MS4A2_uc009ymu.3_Missense_Mutation_p.G104E|MS4A2_uc021qka.1_Intron	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	104					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CCATTCTGGGGAGCCATATTT	0.338000														105			6		0	0	8.12818e-05	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598433	151598433	+	Silent	SNP	C	T	T	rs145165680		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:151598433C>T	uc003ezf.2	+	2	207	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	34						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGATTGAGTTCGTTGTGGGAG	0.423000														185			10		0	0	0.000151284	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106070444	106070444	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:106070444C>T	uc004emo.3	+	6	1245	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Silent_p.I360I|TBC1D8B_uc004emn.3_Silent_p.I360I	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	360						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATCTGTCATCATTAGCATCA	0.388000														133			11		0	0	0.00010058	0	0
GTSE1	51512	broad.mit.edu	37	22	46725256	46725256	+	Splice_Site	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:46725256C>T	uc011aqy.2	+	11	2139	c.1927_splice	c.e11-1	p.A643_splice	GTSE1_uc011aqz.2_Splice_Site_p.A490_splice|GTSE1_uc003bhn.3_Non-coding_Transcript|BC069212_uc011ara.2_5'Flank|BC069212_uc003bho.4_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	624					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGTACCCAGGCTCTTCTTGTA	0.522000														139			7		0	0	0.000157383	0	0
AK302879	0	broad.mit.edu	37	15	76074431	76074431	+	Missense_Mutation	SNP	C	T	T	rs149323153	by1000genomes	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:76074431C>T	uc010umm.1	+	7	610	c.533C>T	c.(532-534)tCg>tTg	p.S178L	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;									p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000														19			7		0	0	0.000157383	0	0
RP1L1	94137	broad.mit.edu	37	8	10465299	10465299	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:10465299G>A	uc003wtc.3	-	3	6538	c.6309C>T	c.(6307-6309)gcC>gcT	p.A2103A		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2103					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)		CTGCCTCTGGGGCCTCTACAC	0.617000														122			7		0	0	8.12818e-05	0	0
EYS	346007	broad.mit.edu	37	6	66115156	66115156	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:66115156C>T	uc011dxu.1	-	5	1505	c.967G>A	c.(967-969)Gga>Aga	p.G323R	EYS_uc003peq.3_Missense_Mutation_p.G323R|EYS_uc003per.1_Missense_Mutation_p.G323R|EYS_uc021zbn.1_Missense_Mutation_p.G323R	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	323					response to stimulus|visual perception	extracellular region	calcium ion binding	p.K322I(1)		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						CTGGAAGATCCTTTTGGGCAT	0.378000														194			6		0	0	8.12818e-05	0	0
FLG	2312	broad.mit.edu	37	1	152281478	152281478	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:152281478C>T	uc001ezu.1	-	2	5920	c.5884G>A	c.(5884-5886)Gaa>Aaa	p.E1962K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1962	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)			GCTCTGTCTTCGTGATGGGAC	0.567000									Ichthyosis					205			10		0	0	6.40141e-05	0	0
SCAND3	114821	broad.mit.edu	37	6	28543645	28543645	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:28543645G>A	uc003nlo.3	-	2	1455	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	279					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						CTTGTACAAGGATAACATCAA	0.378000														140			8		0	0	0.000673444	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113181719	113181719	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr13:113181719G>A	uc001vse.1	-	11	1602	c.1415C>T	c.(1414-1416)cCt>cTt	p.P472L	TUBGCP3_uc010tjq.1_Missense_Mutation_p.P462L|TUBGCP3_uc001vsf.3_Missense_Mutation_p.P472L	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	472					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					CATAAACGAAGGAATCATCGA	0.368000														134			7		0	0	0.000442599	0	0
OR8U8	504189	broad.mit.edu	37	11	56143882	56143882	+	Silent	SNP	G	A	A	rs113061820		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:56143882G>A	uc001nit.2	+	0	783	c.783G>A	c.(781-783)caG>caA	p.Q261Q		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGTACTTACAGCCTAGCTCTA	0.473000														117			6		0	0	0.000157383	0	0
EGFL6	25975	broad.mit.edu	37	X	13624562	13624562	+	Silent	SNP	T	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:13624562T>C	uc004cvj.3	+	5	872	c.585T>C	c.(583-585)ttT>ttC	p.F195F	EGFL6_uc004cvi.3_Silent_p.F195F|EGFL6_uc011mik.1_Silent_p.F96F	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	195	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGAACACATTTGGAAGCTACT	0.398000														65			7		0	0	8.12818e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13759020	13759020	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:13759020C>T	uc003jfd.2	-	60	10396	c.10354G>A	c.(10354-10356)Gat>Aat	p.D3452N	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3452	Stalk (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)					TGCTTGTCATCCAACTCGGCC	0.547000									Kartagener syndrome					129			13		0	0	0.000308642	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548635	20548635	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:20548635C>T	uc002dhj.4	-	14	1889	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	ACSM2B_uc002dhk.4_Missense_Mutation_p.R560Q	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	560					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGTTTGGTTCGTTGAATTTT	0.473000														204			9		0	0	0.000442599	0	0
CYP27C1	339761	broad.mit.edu	37	2	127961021	127961021	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:127961021G>A	uc002tod.2	-	1	236	c.105C>T	c.(103-105)ctC>ctT	p.L35L	CYP27C1_uc021vnn.1_Silent_p.L35L	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	35						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GGCTCCTGAGGAGGTAGATTC	0.418000														119			7		0	0	0.000274275	0	0
CDON	50937	broad.mit.edu	37	11	125888252	125888252	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:125888252G>A	uc009zbw.3	-	4	741	c.613C>T	c.(613-615)Cct>Tct	p.P205S	CDON_uc001qdc.4_Missense_Mutation_p.P205S|CDON_uc001qdd.4_Non-coding_Transcript|CDON_uc009zbx.3_Missense_Mutation_p.P205S	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	205					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CGGCCAATAGGTTCAACTTTT	0.383000														87			6		0	0	3.59834e-05	0	0
OR4E2	26686	broad.mit.edu	37	14	22133359	22133359	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr14:22133359G>A	uc010tmd.2	+	0	63	c.63G>A	c.(61-63)cgG>cgA	p.R21R		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTGATAACCGGGTGCTGGAAA	0.408000														114			5		0	0	0.000602214	0	0
PASD1	139135	broad.mit.edu	37	X	150839576	150839576	+	Silent	SNP	T	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:150839576T>C	uc004fev.4	+	11	1470	c.1138T>C	c.(1138-1140)Ttg>Ctg	p.L380L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	380						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GATGAAGAAGTTGAAGGAGCA	0.448000														107			6		0	0	3.59834e-05	0	0
C11orf9	745	broad.mit.edu	37	11	61539208	61539208	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:61539208G>A	uc001nsc.1	+	5	1073	c.977G>A	c.(976-978)gGt>gAt	p.G326D	C11orf9_uc001nse.1_Missense_Mutation_p.G317D	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	326	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CACCCGCCAGGTGCCCCCTCC	0.692000														62			6		0	0	0.000157383	0	0
GBP7	388646	broad.mit.edu	37	1	89618021	89618021	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:89618021C>T	uc001dna.2	-	4	694	c.555G>A	c.(553-555)ctG>ctA	p.L185L	GBP2_uc001dmy.1_5'Flank	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	185						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		ACTTCAGCTCCAGGGTAAAAT	0.478000														116			9		0	0	0.000442599	0	0
PLCB4	5332	broad.mit.edu	37	20	9424652	9424652	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:9424652G>A	uc021wam.1	+	26	2768	c.2753G>A	c.(2752-2754)aGg>aAg	p.R918K	PLCB4_uc010gbw.1_Missense_Mutation_p.R918K|PLCB4_uc010gbx.3_Missense_Mutation_p.R930K|PLCB4_uc021wal.1_Missense_Mutation_p.R918K|PLCB4_uc002wnh.3_Missense_Mutation_p.R765K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	918					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R918W(2)|p.R918K(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTCAAGTAAGGATAGAAGAC	0.299000														106			6		0	0	8.12818e-05	0	0
PPL	5493	broad.mit.edu	37	16	4937169	4937169	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:4937169C>T	uc002cyd.1	-	20	2664	c.2574G>A	c.(2572-2574)caG>caA	p.Q858Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	858					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACTCCAGATTCTGCAGCCTCT	0.458000														234			8		0	0	6.40141e-05	0	0
KIN	22944	broad.mit.edu	37	10	7816796	7816796	+	Silent	SNP	T	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:7816796T>C	uc001ijt.3	-	6	760	c.666A>G	c.(664-666)tcA>tcG	p.S222S	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Silent_p.S116S	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	222					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CAGCTCACCTTGACTTGGAAG	0.318000														185			8		0	0	0.000673444	0	0
abParts	0	broad.mit.edu	37	22	22735544	22735544	+	RNA	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:22735544G>A	uc021wml.1	+	51		c.5979G>A								Parts of antibodies, mostly variable regions.																		GCAGCTCCCAGGAACGGCCCC	0.577000														90			6		0	0	0.000274275	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600036	81600036	+	Missense_Mutation	SNP	C	T	T	rs79127167		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:81600036C>T	uc003uhr.1	-	26	2415	c.2159G>A	c.(2158-2160)cGa>cAa	p.R720Q	CACNA2D1_uc011kgy.1_5'UTR	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	732						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CACAACAAATCGTGCTTTCAC	0.363000														149			9		0	0	0.00010058	0	0
UHMK1	127933	broad.mit.edu	37	1	162469941	162469942	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:162469941_162469942CC>TT	uc001gcc.2	+	1	661_662	c.465_466CC>TT	c.(463-468)gtccat>gtTTat	p.H156Y	UHMK1_uc001gcd.3_Missense_Mutation_p.H82Y|UHMK1_uc009wuu.2_Missense_Mutation_p.H156Y	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.	156	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	RNA binding|protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGGGCTATGTCCATGCGGACCT	0.436000														62			6		0	0	6.4e-05	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395584	43395584	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:43395584G>A	uc001cik.2	-	4	1164	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	213					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGATGAGCAGGAAGCGGGGAC	0.647000														56			6		0	0	3.59834e-05	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513369	50513369	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:50513369G>A	uc003tpd.3	-	3	1987	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	FIGNL1_uc003tpb.3_Silent_p.I428I|FIGNL1_uc003tpc.3_Silent_p.I539I|FIGNL1_uc003tpe.3_Silent_p.I539I|FIGNL1_uc010kyy.3_Silent_p.I539I|FIGNL1_uc022ada.1_Silent_p.I539I	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	539					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CCACCACTAGGATACGATCTT	0.433000														116			7		0	0	0.000673444	0	0
CHGB	1114	broad.mit.edu	37	20	5903887	5903887	+	Missense_Mutation	SNP	G	A	A	rs144998822		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:5903887G>A	uc002wmg.3	+	3	1403	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	CHGB_uc010zqz.2_Missense_Mutation_p.G49E	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	366						extracellular region	hormone activity	p.G366E(2)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGGGGCAGAGGAAGTGAAGAA	0.517000														94			7		0	0	8.12818e-05	0	0
NT5C3L	115024	broad.mit.edu	37	17	39987068	39987068	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:39987068G>A	uc021txo.1	-	5	467	c.389C>T	c.(388-390)tCc>tTc	p.S130F	NT5C3L_uc021txn.1_Missense_Mutation_p.S122F|NT5C3L_uc002hxy.4_Missense_Mutation_p.S122F	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA.	130						cytoplasm	5'-nucleotidase activity|magnesium ion binding			kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	11		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		CATTGCATTGGACTCTCTAAC	0.443000														131			8		0	0	6.40141e-05	0	0
SH3D19	152503	broad.mit.edu	37	4	152096098	152096098	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:152096098G>A	uc010ipl.1	-	6	1508	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	SH3D19_uc003imc.2_Missense_Mutation_p.P140S|SH3D19_uc003ime.2_Missense_Mutation_p.P140S|SH3D19_uc010ipm.2_Missense_Mutation_p.P140S	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	140	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AAAGGCCGCGGGGCAGGAGTT	0.557000														125			6		0	0	0.000157383	0	0
C3orf15	89876	broad.mit.edu	37	3	119456294	119456294	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:119456294C>T	uc003ede.4	+	10	1503	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	C3orf15_uc010hqy.2_Missense_Mutation_p.R476W|C3orf15_uc010hqz.3_Missense_Mutation_p.R414W|C3orf15_uc011bjd.2_Missense_Mutation_p.R350W|C3orf15_uc011bje.2_Missense_Mutation_p.R456W|C3orf15_uc010hra.2_Missense_Mutation_p.R237W	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	0						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		ACCTCAACCTCGGCTTCCAAC	0.368000														73			5		0	0	0.000602214	0	0
APOB	338	broad.mit.edu	37	2	21234360	21234360	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:21234360C>T	uc002red.3	-	25	5508	c.5380G>A	c.(5380-5382)Gta>Ata	p.V1794I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1794					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)	AAAGTAGTTACCAGAGAATAG	0.413000														671			23		0	0	0.000720815	0	0
TRPM1	4308	broad.mit.edu	37	15	31294517	31294517	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:31294517G>A	uc021sia.1	-	26	4751	c.4437C>T	c.(4435-4437)ttC>ttT	p.F1479F	TRPM1_uc010azy.3_Silent_p.F1347F|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.F1462F|TRPM1_uc001zfm.3_Silent_p.F1440F	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1440					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.R1479H(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGGAATAGACGAAGCTTCTGG	0.463000														113			6		0	0	3.59834e-05	0	0
PLA2G7	7941	broad.mit.edu	37	6	46675832	46675832	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:46675832C>T	uc010jzf.3	-	9	1205	c.936G>A	c.(934-936)caG>caA	p.Q312Q	PLA2G7_uc021zae.1_Silent_p.Q312Q	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	312					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AAAAGAGGGGCTGAGGAATTC	0.338000														91			5		0	0	8.12818e-05	0	0
DBC1	1620	broad.mit.edu	37	9	122075601	122075601	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:122075601G>A	uc004bkc.2	-	1	489	c.33C>T	c.(31-33)ttC>ttT	p.F11F	DBC1_uc004bkd.2_Silent_p.F11F	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	11					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ATATAAACAGGAAGTAGAGGA	0.473000														40			4		0	0	0.00024832	0	0
LAMB4	22798	broad.mit.edu	37	7	107671290	107671290	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:107671290C>T	uc010ljo.1	-	31	5037	c.4953G>A	c.(4951-4953)caG>caA	p.Q1651Q	LAMB4_uc003vey.2_Silent_p.Q1651Q|LAMB4_uc010ljp.1_Silent_p.Q620Q	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1651	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGATTCAGCCTGAACTTTCG	0.507000														132			15		0	0	0.000308642	0	0
CELSR2	1952	broad.mit.edu	37	1	109793469	109793469	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:109793469C>T	uc001dxa.4	+	0	829	c.768C>T	c.(766-768)gtC>gtT	p.V256V		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	256	Cadherin 1.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCACCCACGTCTTCAGGGTCA	0.582000														211			13		0	0	0.000308642	0	0
ARSF	416	broad.mit.edu	37	X	3002495	3002495	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:3002495G>A	uc022brz.1	+	5	754	c.618G>A	c.(616-618)ggG>ggA	p.G206G	ARSF_uc004cre.2_Silent_p.G206G|ARSF_uc004crf.2_Silent_p.G206G	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	206						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAACCTTTGGGAAGCTGAGCG	0.547000														34			4		0	0	0.00024832	0	0
MET	4233	broad.mit.edu	37	7	116339804	116339804	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:116339804G>A	uc003vij.3	+	1	853	c.666G>A	c.(664-666)acG>acA	p.T222T	MET_uc022akk.1_Silent_p.T222T|MET_uc010lkh.3_Silent_p.T222T|MET_uc011knc.1_Silent_p.T222T|MET_uc011knd.2_Silent_p.T222T|MET_uc011knf.2_Silent_p.T222T|MET_uc011kne.2_Silent_p.T222T|MET_uc011kng.1_Silent_p.T222T|MET_uc011knh.1_Silent_p.T222T|MET_uc011kni.2_Silent_p.T222T|MET_uc003vii.1_Silent_p.T241T|MET_uc010lkg.3_Silent_p.T222T|MET_uc011kmz.1_Silent_p.T222T|MET_uc011kna.1_Silent_p.T222T|MET_uc011knb.1_Silent_p.T222T	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	222	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.E221G(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAAAGGAAACGAAAGATGGTT	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					184			8		0	0	0.000274275	0	0
EZH2	2146	broad.mit.edu	37	7	148524307	148524307	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:148524307G>A	uc003wfd.2	-	6	870	c.677C>T	c.(676-678)gCc>gTc	p.A226V	EZH2_uc022aov.1_Missense_Mutation_p.A187V|EZH2_uc011kug.2_Missense_Mutation_p.A217V|EZH2_uc003wfb.2_Missense_Mutation_p.A226V|EZH2_uc003wfc.2_Missense_Mutation_p.A187V|EZH2_uc011kuh.2_Missense_Mutation_p.A217V|EZH2_uc011kui.2_Missense_Mutation_p.A226V|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	226	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGAGGAAATGGCTTCAAAAAT	0.363000			Mis		DLBCL									246			13		0	0	0.000566183	0	0
CNTN1	1272	broad.mit.edu	37	12	41337963	41337963	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:41337963G>A	uc001rmm.1	+	13	1787	c.1674G>A	c.(1672-1674)agG>agA	p.R558R	CNTN1_uc009zjy.2_Silent_p.R558R|CNTN1_uc001rmn.1_Silent_p.R547R|CNTN1_uc001rmo.3_Silent_p.R558R	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	558	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.Q557P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACTACCAGAGGAATTTTATGG	0.353000														53			4		0	0	0.00024832	0	0
ATP12A	479	broad.mit.edu	37	13	25281496	25281496	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr13:25281496G>A	uc010aaa.3	+	16	2769	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	ATP12A_uc001upp.3_Silent_p.L806L	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	806					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCCCCTTTCTGATCTACATCA	0.502000														141			7		0	0	0.000274275	0	0
FGD3	89846	broad.mit.edu	37	9	95795070	95795070	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:95795070C>T	uc004asz.2	+	15	2228	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	FGD3_uc004asw.2_Missense_Mutation_p.S567F|FGD3_uc004asx.2_Missense_Mutation_p.S567F|FGD3_uc011luc.1_Missense_Mutation_p.S170F	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	567					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGGAAGTGCTCCGAGTTCAAG	0.602000														102			5		0	0	3.59834e-05	0	0
SYNE1	23345	broad.mit.edu	37	6	152476160	152476160	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:152476160C>T	uc021zhb.1	-	130	24219	c.23996G>A	c.(23995-23997)cGa>cAa	p.R7999Q	SYNE1_uc003qos.4_Missense_Mutation_p.R2523Q|SYNE1_uc003qot.4_Missense_Mutation_p.R7928Q|SYNE1_uc003qou.4_Missense_Mutation_p.R7999Q|SYNE1_uc011eez.2_Missense_Mutation_p.R201Q|SYNE1_uc003qoq.4_Missense_Mutation_p.R201Q|SYNE1_uc003qor.4_Missense_Mutation_p.R899Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7999					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CTGCCACAATCGCCACGTCTC	0.473000										HNSCC(10;0.0054)				126			8		0	0	0.000673444	0	0
IGSF1	3547	broad.mit.edu	37	X	130409049	130409049	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:130409049A>T	uc004ewe.4	-	16	3694	c.3411T>A	c.(3409-3411)taT>taA	p.Y1137*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.Y1132*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.Y1123*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.Y1112*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1132	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAACACAGCTATAGATCCCAG	0.512000														121			9		0	0	0.000442599	0	0
C18orf26	284254	broad.mit.edu	37	18	52262289	52262289	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr18:52262289C>T	uc002lfq.1	+	1	301	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	85						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		ACCCAGGAATCCTTGCACATT	0.453000														137			6		0	0	3.59834e-05	0	0
BTK	695	broad.mit.edu	37	X	100611935	100611935	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:100611935C>T	uc010nno.2	-	13	1521	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_5'UTR|BTK_uc010nnm.2_5'UTR|BTK_uc004ehg.2_Missense_Mutation_p.E396K|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Non-coding_Transcript|BTK_uc004ehi.3_Missense_Mutation_p.E396K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	396	Protein kinase.		K -> E (in XLA; loss of phosphorylation of GTF2I).|K -> R (in XLA).		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						GGATCAATTTCCCATGATCCT	0.428000									Agammaglobulinemia, X-linked					169			15		0	0	0.000219431	0	0
ACACB	32	broad.mit.edu	37	12	109650724	109650724	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:109650724C>T	uc001tob.3	+	21	3452	c.3333C>T	c.(3331-3333)atC>atT	p.I1111I	ACACB_uc001toc.3_Silent_p.I1111I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1111					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCAGAGCATCGTGCAGTTGG	0.572000														75			8		0	0	0.000442599	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102494084	102494084	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr14:102494084C>T	uc001yks.2	+	46	9341	c.9177C>T	c.(9175-9177)atC>atT	p.I3059I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3059	AAA 4 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCAGGTTATCCGCAACCTCC	0.567000														85			5		0	0	3.59834e-05	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019282	27019282	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:27019282G>A	uc003acz.4	+	2	159	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	42	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTTGGCTTCGAGACTGTGCG	0.602000														51			6		0	0	0.000157383	0	0
INPP5B	3633	broad.mit.edu	37	1	38357066	38357066	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:38357066G>A	uc001ccf.1	-	1	138	c.101C>T	c.(100-102)tCc>tTc	p.S34F	INPP5B_uc009vvk.1_Missense_Mutation_p.S139F|INPP5B_uc001ccg.1_Missense_Mutation_p.S198F|INPP5B_uc010oij.1_5'Flank	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	278					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGACCCCTGGAGCTTTGGTC	0.448000														200			9		0	0	6.40141e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92616153	92616153	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:92616153G>A	uc001pdj.4	+	22	12548	c.12531G>A	c.(12529-12531)aaG>aaA	p.K4177K	FAT3_uc001pdi.4_Silent_p.K617K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4177					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)				TCTTCCGCAAGAAGGTCTTCC	0.582000										TCGA Ovarian(4;0.039)				268			12		0	0	0.000151284	0	0
KRT74	121391	broad.mit.edu	37	12	52967109	52967109	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:52967109G>A	uc001sap.1	-	0	501	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	151	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.F151F(2)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGAAGGAGGCGAACTTGTCGT	0.592000														85			7		0	0	8.12818e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712361	140712361	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:140712361T>C	uc003lji.2	+	0	2110	c.2110T>C	c.(2110-2112)Ttc>Ctc	p.F704L	PCDHGC5_uc011dan.2_Missense_Mutation_p.F704L	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	705					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGCGTCTTCCTGGCCTT	0.677000														113			6		0	0	0.000442599	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431670	107431670	+	Silent	SNP	C	T	T	rs140184294		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:107431670C>T	uc003ver.2	-	4	604	c.393G>A	c.(391-393)ccG>ccA	p.P131P	SLC26A3_uc003ves.2_Silent_p.P96P	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	131			P -> R (in DIAR1).		excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TACTCAGAATCGGAAACGGAC	0.423000														107			7		0	0	8.12818e-05	0	0
FAM71B	153745	broad.mit.edu	37	5	156590528	156590528	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:156590528G>A	uc003lwn.3	-	1	848	c.748C>T	c.(748-750)Cca>Tca	p.P250S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	250	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCGTGGATGGAGAAGCCGCA	0.582000														128			13		0	0	0.00010058	0	0
NEU1	4758	broad.mit.edu	37	6	31829867	31829867	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:31829867C>T	uc003nxq.4	-	1	417	c.261G>A	c.(259-261)cgG>cgA	p.R87R		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	87						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	p.P86P(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GAAGAGTGCCCCGCGGAGTGG	0.607000														152			7		0	0	0.000157383	0	0
NEK2	4751	broad.mit.edu	37	1	211843679	211843679	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:211843679G>A	uc001hir.2	-	4	860	c.709C>T	c.(709-711)Cca>Tca	p.P237S	NEK2_uc021piq.1_Missense_Mutation_p.P237S|NEK2_uc021pir.1_5'UTR|NEK2_uc001his.4_Missense_Mutation_p.P237S|NEK2_uc001hit.2_Non-coding_Transcript	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	237	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TAACGGTATGGAATTCGCCTG	0.373000														196			6		0	0	3.59834e-05	0	0
TGIF2	60436	broad.mit.edu	37	20	35240480	35240480	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:35240480T>C	uc002xfr.3	+	2	504	c.286T>C	c.(286-288)Tat>Cat	p.Y96H	TGIF2_uc002xfo.3_3'UTR|TGIF2_uc002xfs.3_3'UTR|TGIF2_uc002xfq.3_3'UTR|TGIF2_uc002xft.3_Non-coding_Transcript	NM_199483	NP_955777	Q9GZN2	TGIF2_HUMAN	Homo sapiens chromosome 20 open reading frame 24 (C20orf24), transcript variant 2, mRNA.	146						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R95S(1)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AAGTGCTCCCTATCCAGTCCA	0.507000														229			7		0	0	0.000442599	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741355	81741355	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:81741355C>T	uc001szo.2	-	17	2350	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.R656Q|PPFIA2_uc021rbh.1_Missense_Mutation_p.R631Q|PPFIA2_uc021rbi.1_Missense_Mutation_p.R730Q|PPFIA2_uc021rbj.1_Missense_Mutation_p.R730Q|PPFIA2_uc021rbk.1_Missense_Mutation_p.R712Q|PPFIA2_uc021rbl.1_Missense_Mutation_p.R730Q|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.R297Q|PPFIA2_uc021rbf.1_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	656										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						GGCAGGGCTTCGAGGGGTGAG	0.527000														119			7		0	0	0.000274275	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333982	35333982	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:35333982C>T	uc001mwd.3	-	3	916	c.324G>A	c.(322-324)ctG>ctA	p.L108L	SLC1A2_uc021qfx.1_Silent_p.L99L|SLC1A2_uc001mwe.3_Silent_p.L99L|SLC1A2_uc010rev.1_Silent_p.L108L	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	108					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CCTTAGCATCCAGGCCTGACA	0.463000														50			6		0	0	8.12818e-05	0	0
SLX4	84464	broad.mit.edu	37	16	3632512	3632512	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:3632512C>T	uc002cvp.2	-	14	5963	c.5336G>A	c.(5335-5337)cGg>cAg	p.R1779Q		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1779	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTGCAGCTCCCGCAGCTCAAA	0.652000								Direct reversal of damage						81			6		0	0	0.000157383	0	0
ABCC9	10060	broad.mit.edu	37	12	21962843	21962843	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:21962843C>T	uc001rfh.3	-	34	4278	c.4258G>A	c.(4258-4260)Gaa>Aaa	p.E1420K	ABCC9_uc001rfi.1_Missense_Mutation_p.E1420K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1420	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTAAGGCTTCCCAGAGTCTG	0.313000														97			5		0	0	0.000274275	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159208	118159208	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:118159208G>A	uc003yoh.3	+	1	317	c.87G>A	c.(85-87)caG>caA	p.Q29Q	SLC30A8_uc010mcz.3_5'UTR|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	29					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)			AACTCCAACAGAAACCGGTGA	0.512000														211			9		0	0	0.000673444	0	0
OR2A2	442361	broad.mit.edu	37	7	143807264	143807264	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:143807264G>A	uc011ktz.2	+	0	589	c.589G>A	c.(589-591)Gtc>Atc	p.V197I		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TAACCAAGTGGTCATATTTGC	0.517000														147			10		0	0	0.00010058	0	0
QRICH2	84074	broad.mit.edu	37	17	74287761	74287761	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:74287761C>T	uc002jrd.1	-	3	2729	c.2549G>A	c.(2548-2550)aGa>aAa	p.R850K	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	850							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTATTGTTCTCTGCCAGGAGG	0.478000														75			5		0	0	8.12818e-05	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212656	100212656	+	Splice_Site	SNP	T	G	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:100212656T>G	uc003uvq.3	+	5	878	c.676_splice	c.e5+2	p.G226_splice	MOSPD3_uc003uvr.3_Splice_Site_p.G226_splice|MOSPD3_uc003uvs.3_Splice_Site_p.G226_splice|MOSPD3_uc003uvt.3_Splice_Site_p.G216_splice	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	226						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACGTCTTGGGTGAGGACAGTA	0.627000														74			4		0	0	8.12818e-05	0	0
DTX3L	151636	broad.mit.edu	37	3	122287963	122287963	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:122287963C>T	uc003efk.3	+	2	1116	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	DTX3L_uc010hrj.3_Intron|DTX3L_uc021xdb.1_Missense_Mutation_p.L179F	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	343					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.L343F(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CGAATTAACTCTCCTTGGGAC	0.383000														193			11		0	0	0.000219431	0	0
LECT2	3950	broad.mit.edu	37	5	135288572	135288572	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:135288572T>A	uc003lbe.1	-	1	332	c.131A>T	c.(130-132)tAc>tTc	p.Y44F		NM_002302	NP_002293	O14960	LECT2_HUMAN	Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA.	44					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGAGCAGAGTACTGTCCACA	0.517000														181			8		0	0	0.000442599	0	0
ATP8A2	51761	broad.mit.edu	37	13	26117517	26117517	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr13:26117517G>A	uc001uqk.3	+	9	1010	c.868G>A	c.(868-870)Gga>Aga	p.G290R	ATP8A2_uc010tdi.2_Missense_Mutation_p.G250R|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.G250R	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	250					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)		TGTTTATACTGGACACGACAC	0.378000														176			7		0	0	0.000157383	0	0
ODZ1	10178	broad.mit.edu	37	X	123775740	123775740	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:123775740G>A	uc010nqy.3	-	10	2042	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	ODZ1_uc011muj.2_Missense_Mutation_p.P659S|ODZ1_uc004euj.3_Missense_Mutation_p.P660S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	660	EGF-like 5.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGACATACAGGAAGTGGTGTT	0.502000														119			6		0	0	3.59834e-05	0	0
SVEP1	79987	broad.mit.edu	37	9	113312239	113312239	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:113312239C>T	uc010mtz.3	-	1	1014	c.677G>A	c.(676-678)gGg>gAg	p.G226E	SVEP1_uc010mua.1_Missense_Mutation_p.G226E|SVEP1_uc004beu.2_Missense_Mutation_p.G226E|SVEP1_uc004bev.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	226	VWFA.				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						TCGAATGTTCCCTTGCCATAT	0.498000														46			4		0	0	0.00024832	0	0
BCHE	590	broad.mit.edu	37	3	165548644	165548644	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:165548644G>A	uc003fem.4	-	1	338	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	60					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TGTGCATAGGGAATTCCAAGA	0.413000														48			5		0	0	0.000602214	0	0
MYT1L	23040	broad.mit.edu	37	2	1843014	1843014	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:1843014G>A	uc002qxe.3	-	20	3814	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	MYT1L_uc002qxd.3_Missense_Mutation_p.S994F|MYT1L_uc010ewk.3_5'UTR	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	996					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGACTTCCAGGAGAACTGGGA	0.647000														32			5		0	0	0.000602214	0	0
GPM6A	2823	broad.mit.edu	37	4	176594859	176594859	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:176594859G>A	uc003iuf.3	-	2	1163	c.359C>T	c.(358-360)aCc>aTc	p.T120I	GPM6A_uc011ckj.2_Missense_Mutation_p.T113I|GPM6A_uc003iug.3_Missense_Mutation_p.T120I|GPM6A_uc003iuh.3_Missense_Mutation_p.T109I	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	120						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCCACAAGTGGTGATTTTGAA	0.433000														38			5		0	0	3.59834e-05	0	0
PRDM1	639	broad.mit.edu	37	6	106554851	106554851	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:106554851G>A	uc003prd.2	+	6	2202	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	PRDM1_uc003pre.3_Silent_p.E522E	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	656					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ATTCTGGAGAGAAACCATACC	0.557000			"""D, N, Mis, F, S"""		DLBCL									84			5		0	0	3.59834e-05	0	0
OR52B6	340980	broad.mit.edu	37	11	5602581	5602581	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:5602581G>A	uc010qzi.2	+	0	475	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAAGCAAGGTCATTGGGAA	0.512000														198			6		0	0	8.12818e-05	0	0
NANP	140838	broad.mit.edu	37	20	25597014	25597014	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:25597014G>A	uc002wuy.3	-	1	358	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_152667	NP_689880	Q8TBE9	NANP_HUMAN	Homo sapiens N-acetylneuraminic acid phosphatase (NANP), mRNA.	98					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						ATTTCCAAAGGAAATAACATT	0.403000														75			5		0	0	0.000602214	0	0
KIAA1324	57535	broad.mit.edu	37	1	109714518	109714518	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:109714518C>T	uc021orb.1	+	3	719	c.498C>T	c.(496-498)atC>atT	p.I166I	KIAA1324_uc009wex.2_Silent_p.I166I|KIAA1324_uc010ovg.2_Silent_p.I64I|KIAA1324_uc009wey.3_Silent_p.I166I	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	166					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCGACTACATCGCCTCCAACA	0.562000														265			13		0	0	0.000422831	0	0
MYH8	4626	broad.mit.edu	37	17	10296412	10296412	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:10296412G>A	uc002gmm.2	-	35	5377	c.5282C>T	c.(5281-5283)gCc>gTc	p.A1761V	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1761					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						ATCAGTGATGGCCTTCTTGGC	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					142			10		0	0	0.00010058	0	0
SYCP2L	221711	broad.mit.edu	37	6	10956372	10956372	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:10956372G>A	uc003mzo.3	+	24	2356	c.2060G>A	c.(2059-2061)gGa>gAa	p.G687E	SYCP2L_uc010jow.3_Missense_Mutation_p.G307E	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	687						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTTCCAGAAGGAATTTCCACT	0.368000														33			4		0	0	0.000602214	0	0
SCN11A	11280	broad.mit.edu	37	3	38949572	38949572	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:38949572G>A	uc021wvy.1	-	9	1540	c.1341C>T	c.(1339-1341)tcC>tcT	p.S447S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	447					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)	ATGTTTCAAGGGAAGTAAGTG	0.388000														122			6		0	0	8.12818e-05	0	0
ARPP21	10777	broad.mit.edu	37	7	38305101	38305101	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:38305101C>T	uc003tge.1	-	4	983	c.606G>A	c.(604-606)ggG>ggA	p.G202G	ARPP21_uc022aby.1_5'UTR|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_5'UTR|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	710	R3H.					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						TCATGGTGTTCCCCTCCTGGG	0.413000														147			9		0	0	6.40141e-05	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3394499	3394499	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:3394499G>A	uc001akg.4	+	10	1782	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	ARHGEF16_uc001aki.3_Missense_Mutation_p.E224K|ARHGEF16_uc001akj.3_Missense_Mutation_p.E224K|ARHGEF16_uc010nzh.2_Missense_Mutation_p.E216K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	512	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTTCTTAGTGGAAGAAACCGG	0.572000														55			5		0	0	3.59834e-05	0	0
ZNF217	7764	broad.mit.edu	37	20	52198287	52198287	+	Missense_Mutation	SNP	G	A	A	rs139287977		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:52198287G>A	uc002xwq.4	-	0	1421	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	ZNF217_uc010gij.1_Missense_Mutation_p.S352F	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	360					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGCGTCCACGGAGGGCGCTTC	0.562000														62			6		0	0	0.000157383	0	0
DZIP1L	199221	broad.mit.edu	37	3	137803020	137803020	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:137803020G>A	uc003erq.3	-	7	1501	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	DZIP1L_uc003err.1_Nonsense_Mutation_p.Q380*	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	380						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GTGCTGATCTGGCACTGGGAC	0.602000														417			14		0	0	0.000308642	0	0
TRAF6	7189	broad.mit.edu	37	11	36520147	36520147	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:36520147C>T	uc001mwq.2	-	3	721	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	TRAF6_uc001mws.2_Missense_Mutation_p.E114K	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	114	Interaction with TAX1BP1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				AGTTGATTTTCCAGCAGTATT	0.353000														55			7		0	0	0.000157383	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906671	84906671	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:84906671G>A	uc010voh.1	+	9	1282	c.1055G>A	c.(1054-1056)aGg>aAg	p.R352K	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fim.2_Missense_Mutation_p.R352K|CRISPLD2_uc002fin.4_Missense_Mutation_p.R352K	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	352	LCCL 1.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GATATCACCAGGAACGGGAAG	0.572000														94			7		0	0	8.12818e-05	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564127	140564127	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:140564127G>A	uc003liv.3	+	0	3148	c.1993G>A	c.(1993-1995)Ggc>Agc	p.G665S	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	665	Cadherin 6.				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)			CCTGGTGGACGGCTTCTCCCA	0.701000														51			5		0	0	0.000602214	0	0
RP1	6101	broad.mit.edu	37	8	55537629	55537629	+	Missense_Mutation	SNP	G	A	A	rs141279458	byFrequency	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:55537629G>A	uc003xsd.1	+	3	1335	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	396					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)			CCTATGGAGCGAAGCAGTAAT	0.433000														45			5		0	0	3.59834e-05	0	0
SEPHS2	22928	broad.mit.edu	37	16	30455897	30455897	+	Silent	SNP	A	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:30455897A>C	uc021tgl.1	-	0	1328	c.1152T>G	c.(1150-1152)gcT>gcG	p.A384A	SEPHS2_uc002dyh.1_Silent_p.A327A	NM_012248		Q99611	SPS2_HUMAN	Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA.	384					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AACAAAAGCGAGCCGCCTGTT	0.532000														71			6		0	0	8.12818e-05	0	0
FLG	2312	broad.mit.edu	37	1	152285533	152285533	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:152285533C>T	uc001ezu.1	-	2	1865	c.1829G>A	c.(1828-1830)gGg>gAg	p.G610E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	610	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)			TGTCCTGGGCCCCGATGATTG	0.572000									Ichthyosis					170			9		0	0	0.000442599	0	0
UBE4B	10277	broad.mit.edu	37	1	10197223	10197223	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:10197223C>T	uc021ogc.1	+	17	3164	c.2476C>T	c.(2476-2478)Cgc>Tgc	p.R826C	UBE4B_uc001aqs.4_Missense_Mutation_p.R775C|UBE4B_uc001aqr.4_Missense_Mutation_p.R646C|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.R230C	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	775					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.E825fs*1(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TAGTTGCCGTCGCTATATCCG	0.532000														124			7		0	0	8.12818e-05	0	0
KIF23	9493	broad.mit.edu	37	15	69737190	69737190	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:69737190C>T	uc002asb.3	+	18	2619	c.2441C>T	c.(2440-2442)tCt>tTt	p.S814F	KIF23_uc002asc.3_Missense_Mutation_p.S710F|KIF23_uc010bii.3_Intron|KIF23_uc010ukc.2_Missense_Mutation_p.S527F	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	814					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CGATCACGCTCTGCAGGAGAC	0.463000														60			6		0	0	3.59834e-05	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93139259	93139259	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:93139259C>T	uc001tcj.2	+	4	437	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	69	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TGCAGTATTTCCGAGGGAGTC	0.443000														102			7		0	0	0.000157383	0	0
NSUN7	79730	broad.mit.edu	37	4	40810421	40810421	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:40810421G>A	uc003gvj.4	+	11	2117	c.1622G>A	c.(1621-1623)cGg>cAg	p.R541Q	NSUN7_uc003gvi.4_3'UTR	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCATCAAAACGGGAGAAGAAG	0.443000														37			4		0	0	0.00024832	0	0
DISP1	84976	broad.mit.edu	37	1	223165393	223165393	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:223165393G>A	uc001hnu.2	+	7	1156	c.830G>A	c.(829-831)aGa>aAa	p.R277K		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	277					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)		CATTATGAAAGAGAGAAAAGA	0.398000														347			10		0	0	6.40141e-05	0	0
CHD6	84181	broad.mit.edu	37	20	40141535	40141535	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:40141535C>T	uc002xka.1	-	4	980	c.802G>A	c.(802-804)Gct>Act	p.A268T	CHD6_uc002xkd.2_Missense_Mutation_p.A246T|CHD6_uc002xkc.3_Missense_Mutation_p.A303T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	268					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTTCGACCAGCTCCAAGAACA	0.512000														252			9		0	0	0.00010058	0	0
ALOX5	240	broad.mit.edu	37	10	45891369	45891369	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:45891369G>A	uc001jce.3	+	2	515	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	ALOX5_uc009xmt.3_Missense_Mutation_p.R139Q|ALOX5_uc010qfg.2_Missense_Mutation_p.R139Q|ALOX5_uc021ppr.1_Missense_Mutation_p.R139Q	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	139	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.T138R(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)	CTGGAAACACGGCAAAAACAA	0.448000														29			4		0	0	0.00024832	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573809	136573809	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:136573809C>T	uc003erf.4	+	1	721	c.507C>T	c.(505-507)ttC>ttT	p.F169F	SLC35G2_uc003erg.4_Silent_p.F169F|SLC35G2_uc010hub.3_Silent_p.F169F|SLC35G2_uc021xem.1_Silent_p.F169F	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	169	DUF6 1.					Golgi apparatus|integral to membrane											TACGACTCTTCTTTTATGGTG	0.408000														178			6		0	0	0.000274275	0	0
APOB	338	broad.mit.edu	37	2	21228172	21228172	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:21228172G>A	uc002red.3	-	25	11696	c.11568C>T	c.(11566-11568)atC>atT	p.I3856I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3856					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)	GCTCAGGCACGATGATGGTGG	0.473000														452			13		0	0	0.000219431	0	0
FAT3	120114	broad.mit.edu	37	11	92086330	92086330	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:92086330G>A	uc001pdj.4	+	0	1069	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	351	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGACAAGGGATCTCCTCAA	0.433000										TCGA Ovarian(4;0.039)				354			17		0	0	0.000958276	0	0
ELTD1	64123	broad.mit.edu	37	1	79383604	79383604	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:79383604C>T	uc001diq.4	-	10	1749	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	531					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		TATAAAAATTCTTGTGCAAAA	0.388000														162			8		0	0	0.000274275	0	0
STAG2	10735	broad.mit.edu	37	X	123205088	123205088	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:123205088C>T	uc004eua.3	+	24	2852	c.2448C>T	c.(2446-2448)acC>acT	p.T816T	STAG2_uc004etz.4_Silent_p.T816T|STAG2_uc004eub.3_Silent_p.T816T|STAG2_uc004euc.3_Silent_p.T816T|STAG2_uc004eud.3_Silent_p.T816T|STAG2_uc004eue.3_Silent_p.T816T	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	816					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAGTGTATACCCCTGATTCTT	0.373000														113			6		0	0	8.12818e-05	0	0
MLL5	55904	broad.mit.edu	37	7	104748158	104748158	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:104748158G>A	uc003vcm.3	+	21	3788	c.3254G>A	c.(3253-3255)aGg>aAg	p.R1085K	MLL5_uc010ljc.3_Missense_Mutation_p.R1085K|MLL5_uc010lje.1_Non-coding_Transcript|MLL5_uc010ljf.1_Non-coding_Transcript|MLL5_uc010ljg.3_5'UTR|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1085					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TCCAACTTGAGGGACCTGACA	0.498000														24			4		0	0	0.00024832	0	0
KCNMA1	3778	broad.mit.edu	37	10	78870048	78870048	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:78870048G>A	uc001jxn.3	-	7	1191	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	KCNMA1_uc021ptu.1_Silent_p.T284T|KCNMA1_uc001jxj.2_Silent_p.T338T|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Silent_p.T158T|KCNMA1_uc001jxl.1_5'UTR|KCNMA1_uc001jxo.3_Silent_p.T338T|KCNMA1_uc001jxm.3_Silent_p.T338T|KCNMA1_uc001jxq.3_Silent_p.T338T	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	338					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATTCCCAGTAGGTGAGAGCCT	0.443000														199			9		0	0	0.00010058	0	0
OR3A3	8392	broad.mit.edu	37	17	3324668	3324668	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:3324668G>A	uc010vrd.2	+	0	807	c.807G>A	c.(805-807)atG>atA	p.M269I		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TCAGCTACATGAGGCTGGGTT	0.517000														108			9		0	0	0.000442599	0	0
ALAD	210	broad.mit.edu	37	9	116153101	116153101	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:116153101G>A	uc011lxf.2	-	4	576	c.374C>T	c.(373-375)cCc>cTc	p.P125L	ALAD_uc011lxe.2_Missense_Mutation_p.P108L|ALAD_uc004bhl.4_Missense_Mutation_p.P154L	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	125					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GGAGGTGTAGGGACACAGGCA	0.612000														20			6		0	0	3.59834e-05	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:6426892C>T	uc003spx.3	+	1	326	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000														150			6		0	0	8.12818e-05	0	0
GYG2	8908	broad.mit.edu	37	X	2772118	2772118	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:2772118G>A	uc004cqs.1	+	4	622	c.340G>A	c.(340-342)Ggg>Agg	p.G114R	GYG2_uc004cqu.1_Missense_Mutation_p.G83R|GYG2_uc004cqx.2_Missense_Mutation_p.G114R|GYG2_uc004cqt.1_Missense_Mutation_p.G83R|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.G74R|GYG2_uc010ndc.1_5'Flank	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	114					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	p.G114R(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGAGCTCGGGCTCACCCT	0.507000														8			3		0	0	6.4e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223177256	223177256	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:223177256C>T	uc001hnu.2	+	9	2843	c.2517C>T	c.(2515-2517)ttC>ttT	p.F839F		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	839					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)		ACCAAACATTCTTTTACCAGA	0.453000														390			9		0	0	0.000442599	0	0
SV2B	9899	broad.mit.edu	37	15	91795126	91795126	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:91795126G>T	uc002bqv.3	+	3	1420	c.529G>T	c.(529-531)Gtc>Ttc	p.V177F	SV2B_uc002bqt.3_Missense_Mutation_p.V177F|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.V26F	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	177					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.R176*(1)|p.R176R(1)		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)			AAGGAAGCGAGTCCTCAGCAT	0.577000														274			13		4.36969e-10	4.93452e-09	0.000151284	1	0
VGLL1	51442	broad.mit.edu	37	X	135618348	135618348	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:135618348G>A	uc004ezy.3	+	1	339	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GAGCCCCCAGGAATTGACCCC	0.537000														28			4		0	0	3.59834e-05	0	0
C4orf27	54969	broad.mit.edu	37	4	170671850	170671850	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:170671850G>A	uc003isl.4	-	2	300	c.235C>T	c.(235-237)Caa>Taa	p.Q79*		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	Homo sapiens chromosome 4 open reading frame 27 (C4orf27), mRNA.	79						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		CCAACTAATTGAAGTCCAAGG	0.323000														176			8		0	0	0.000442599	0	0
C17orf77	146723	broad.mit.edu	37	17	72588229	72588229	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:72588229C>T	uc002jla.1	+	2	406	c.44C>T	c.(43-45)cCt>cTt	p.P15L	CD300LD_uc002jkz.2_Intron|C17orf77_uc021ucq.1_Missense_Mutation_p.P15L	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	15						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGTCTCCTTCCTGAGAACAGA	0.483000														136			6		0	0	8.12818e-05	0	0
CDC45	8318	broad.mit.edu	37	22	19470342	19470342	+	Missense_Mutation	SNP	G	A	A	rs150749750		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:19470342G>A	uc011aha.2	+	3	412	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CDC45_uc021wlg.1_Non-coding_Transcript|CDC45_uc011agz.1_Missense_Mutation_p.D107N|CDC45_uc002zpr.3_Missense_Mutation_p.D112N|CDC45_uc002zpt.3_Intron	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	112					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGTATACAACGATACCCAGGT	0.413000														171			40		0	0	0.000781405	0	0
HGD	3081	broad.mit.edu	37	3	120393815	120393815	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:120393815A>G	uc003edw.3	-	2	569	c.109T>C	c.(109-111)Tac>Cac	p.Y37H		NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	37					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TAGAGATTGTAGGGGCAGACC	0.468000														170			10		0	0	0.00010058	0	0
MUC16	94025	broad.mit.edu	37	19	9059164	9059164	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr19:9059164C>T	uc002mkp.3	-	2	28486	c.28282G>A	c.(28282-28284)Gaa>Aaa	p.E9428K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9430	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTTTTTTTCCACAGACAGC	0.502000														78			8		0	0	0.000442599	0	0
FAM24A	118670	broad.mit.edu	37	10	124671211	124671211	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:124671211G>A	uc001lgv.3	+	1	182	c.61G>A	c.(61-63)Gtt>Att	p.V21I		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA.	21						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CAGCTTACTGGTTGCCGCGAT	0.483000														305			8		0	0	0.000274275	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779338	31779338	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:31779338C>T	uc003nxh.3	-	1	595	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	HSPA1L_uc010jte.3_Missense_Mutation_p.G138S|HSPA1L_uc021yuz.1_Missense_Mutation_p.G138S	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	138					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						ACAGGGTGGCCCAAAAAGGCC	0.468000														358			15		0	0	0.000219431	0	0
OR5H6	79295	broad.mit.edu	37	3	97983347	97983347	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:97983347C>T	uc003dsi.1	+	0	219	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACCTTCATATCCCAATGTACT	0.418000														157			8		0	0	0.000274275	0	0
PTGS2	5743	broad.mit.edu	37	1	186645642	186645642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:186645642C>T	uc001gsb.3	-	6	1064	c.927G>A	c.(925-927)tgG>tgA	p.W309*	PTGS2_uc009wyo.3_Nonsense_Mutation_p.W156*	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	309					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	GCTCATCACCCCATTCAGGAT	0.448000														106			5		0	0	3.59834e-05	0	0
INADL	10207	broad.mit.edu	37	1	62327314	62327314	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:62327314C>T	uc001dab.3	+	18	2528	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L	INADL_uc009waf.1_Missense_Mutation_p.S805L|INADL_uc001daa.2_Missense_Mutation_p.S805L|INADL_uc001dad.3_Missense_Mutation_p.S502L|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	805					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATATAAATTCATCTTTAATA	0.264000														213			9		0	0	0.000442599	0	0
OR6V1	346517	broad.mit.edu	37	7	142749792	142749792	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:142749792G>A	uc011ksv.2	+	0	355	c.355G>A	c.(355-357)Gat>Aat	p.D119N		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CATGGCCCTTGATCGCTTTGT	0.582000														78			6		0	0	3.59834e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32049925	32049925	+	Silent	SNP	G	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:32049925G>C	uc003nzl.2	-	8	3826	c.3624C>G	c.(3622-3624)ccC>ccG	p.P1208P		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1295	Fibronectin type-III 4.				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						ATGAACGCTCGGGCCCTTCCA	0.577000														165			6		0	0	3.59834e-05	0	0
SLC17A9	63910	broad.mit.edu	37	20	61595602	61595602	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:61595602C>T	uc002yea.4	+	7	1029	c.845C>T	c.(844-846)cCt>cTt	p.P282L	SLC17A9_uc002ydz.4_Missense_Mutation_p.P276L|SLC17A9_uc011aap.1_Missense_Mutation_p.P302L	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	282					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						AACGTGGTTCCTTGGTTGGTG	0.607000														152			12		0	0	0.000308642	0	0
FABP12	646486	broad.mit.edu	37	8	82441826	82441826	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:82441826C>T	uc011lfp.2	-	1	93	c.93G>A	c.(91-93)agG>agA	p.R31R	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	31							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GGCCCAGTTTCCTGCTGGCTC	0.348000														55			5		0	0	3.59834e-05	0	0
CNST	163882	broad.mit.edu	37	1	246754998	246754998	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:246754998G>A	uc001ibp.3	+	1	512	c.134G>A	c.(133-135)gGg>gAg	p.G45E	CNST_uc001ibo.4_Missense_Mutation_p.G45E	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	45					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CAGCTTGACGGGGACGGGCAT	0.493000														36			4		0	0	0.00024832	0	0
OR2A12	346525	broad.mit.edu	37	7	143792901	143792901	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:143792901G>A	uc011kty.2	+	0	701	c.701G>A	c.(700-702)aGa>aAa	p.R234K		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R233L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGGCCGCAGAAAGGCCTTC	0.582000														102			9		0	0	0.000442599	0	0
NRK	203447	broad.mit.edu	37	X	105152843	105152843	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:105152843C>T	uc004emd.3	+	12	1513	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	NRK_uc010npc.1_Nonsense_Mutation_p.Q72*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	404	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCCACAGGTCCAGGCACTTCA	0.577000										HNSCC(51;0.14)				26			4		0	0	3.59834e-05	0	0
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	G	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:16285497A>G	uc002gpx.3	+	1	414	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_uc010vwe.1_Intron|UBB_uc021tqs.1_Silent_p.E92E	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	92	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E92E(4)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557000														50			4		0	0	0.00024832	0	0
PRDM9	56979	broad.mit.edu	37	5	23526485	23526485	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:23526485C>T	uc003jgo.3	+	10	1470	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	430					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P430H(1)|p.P430P(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						ACCAGAGAATCCCTGCCCAGG	0.453000										HNSCC(3;0.000094)				79			5		0	0	3.59834e-05	0	0
UBTFL1	642623	broad.mit.edu	37	11	89819824	89819824	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:89819824C>T	uc010rub.2	+	0	707	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	236					multicellular organismal development	cytoplasm|nucleus	DNA binding										CACCAAGATTCCTGGTCAAGT	0.468000														65			5		0	0	8.12818e-05	0	0
EHHADH	1962	broad.mit.edu	37	3	184936028	184936028	+	Splice_Site	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:184936028C>T	uc003fpf.3	-	5	540	c.464_splice	c.e5-1	p.G155_splice	EHHADH_uc011brs.2_Splice_Site_p.G59_splice	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	155	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	AATACGTCTTCCTGAAATAaa	0.383000														135			6		0	0	8.12818e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120438381	120438381	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:120438381C>T	uc001eij.3	-	0	767	c.579G>A	c.(577-579)agG>agA	p.R193R		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	193					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAGGAAAGTCCCTTAGCCTCG	0.408000														617			11		0	0	0.00010058	0	0
DYRK3	8444	broad.mit.edu	37	1	206821877	206821877	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:206821877C>T	uc001hej.3	+	2	1502	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.S425F	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	445	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S445F(1)|p.S410F(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTTATTAATTCCAAGGGCATA	0.547000														163			8		0	0	0.000274275	0	0
COL5A2	1290	broad.mit.edu	37	2	189899755	189899755	+	Missense_Mutation	SNP	C	T	T	rs139229616	byFrequency	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:189899755C>T	uc002uqk.3	-	52	4515	c.4240G>A	c.(4240-4242)Gat>Aat	p.D1414N	COL5A2_uc010frx.3_Missense_Mutation_p.D990N	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1414	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTAGCTTGATCGTCCATGTAT	0.383000														110			9		0	0	0.000673444	0	0
MICAL3	57553	broad.mit.edu	37	22	18301214	18301214	+	Missense_Mutation	SNP	G	A	A	rs143411730	by1000genomes	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:18301214G>A	uc002zng.4	-	25	4566	c.4213C>T	c.(4213-4215)Cgg>Tgg	p.R1405W	MICAL3_uc011agl.2_Missense_Mutation_p.R1321W|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1405	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GACGGGGACCGGGGGGTTGGC	0.667000														81			13		0	0	0.00074312	0	0
ITK	3702	broad.mit.edu	37	5	156676015	156676015	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:156676015G>A	uc003lwo.1	+	15	1871	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	597	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E597K(2)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCTGGAAAGAGGTCAGTGG	0.522000			T	SYK	peripheral T-cell lymphoma									194			8		0	0	0.000157383	0	0
BSCL2	26580	broad.mit.edu	37	11	62458874	62458874	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:62458874G>A	uc001nut.4	-	7	1485	c.883C>T	c.(883-885)Ccg>Tcg	p.P295S	LRRN4CL_uc001nun.3_5'Flank|LRRN4CL_uc021qkm.1_5'Flank|BSCL2_uc001nup.3_Missense_Mutation_p.P231S|BSCL2_uc009yoc.2_Intron|BSCL2_uc001nur.4_Missense_Mutation_p.P295S|BSCL2_uc009yod.3_Missense_Mutation_p.P295S|HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001122955	NP_001116427	Q96G97	BSCL2_HUMAN	Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.	231					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CAGGTCATCGGGAAGTTGTAT	0.522000														251			11		0	0	6.40141e-05	0	0
CMYA5	202333	broad.mit.edu	37	5	79026302	79026302	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:79026302C>T	uc003kgc.3	+	1	1786	c.1714C>T	c.(1714-1716)Cct>Tct	p.P572S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	572	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCATCATCTCCTGAACATGT	0.433000														366			9		0	0	6.40141e-05	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060760	58060760	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr14:58060760G>A	uc021rtp.1	-	1	235	c.186C>T	c.(184-186)tcC>tcT	p.S62S	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGACAGTGGGGACAGTTGTC	0.478000														33			4		0	0	0.000602214	0	0
TRHDE	29953	broad.mit.edu	37	12	72866880	72866880	+	Missense_Mutation	SNP	G	A	A	rs147826771		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:72866880G>A	uc001sxa.3	+	4	1399	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	457					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGTGTGGTGGGAAGACGTGTG	0.393000														224			8		0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179438407	179438407	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:179438407C>T	uc021vsy.1	-	274	64973	c.64748G>A	c.(64747-64749)gGa>gAa	p.G21583E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G15278E|TTN_uc021vta.1_Missense_Mutation_p.G15211E|TTN_uc021vtb.1_Missense_Mutation_p.G15086E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22510	Fibronectin type-III 56.						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)			TTTGGCACCTCCATCATCCAG	0.443000														222			8		0	0	0.000442599	0	0
ZG16B	124220	broad.mit.edu	37	16	2880751	2880751	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:2880751G>A	uc002cru.3	+	2	293	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	73						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTACGACCATGAAATCACAGG	0.537000														125			8		0	0	0.000274275	0	0
SCRN1	9805	broad.mit.edu	37	7	29980462	29980462	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:29980462G>A	uc011kaa.2	-	4	684	c.635C>T	c.(634-636)tCg>tTg	p.S212L	SCRN1_uc011jzy.2_Missense_Mutation_p.S124L|SCRN1_uc003tak.3_Missense_Mutation_p.S192L|SCRN1_uc011jzz.2_Missense_Mutation_p.S192L|SCRN1_uc011jzw.2_Intron|SCRN1_uc010kvp.3_Missense_Mutation_p.S192L|SCRN1_uc011jzx.2_Intron	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	192					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						AGTGGTGAGCGAAAGCTGACT	0.458000														141			7		0	0	0.000274275	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166327	96166327	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:96166327G>A	uc022ayk.1	+	0	55	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	PLEKHF2_uc003yhn.2_Missense_Mutation_p.E19K	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	19						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					AAGTATAGTGGAAAACTGTTT	0.378000														483			12		0	0	0.000219431	0	0
SYN3	8224	broad.mit.edu	37	22	33402622	33402622	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:33402622G>A	uc003amx.3	-	0	188	c.26C>T	c.(25-27)tCt>tTt	p.S9F	SYN3_uc003amy.3_Missense_Mutation_p.S9F|SYN3_uc003amz.3_Missense_Mutation_p.S9F	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	9	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTGCTGTCAGAGAGACGTCG	0.587000											OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		82			16		0	0	0.000422831	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008741	142008741	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:142008741G>A	uc003vxf.3	+	1	263	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TRBV2_uc011kro.1_Intron|TRBV3-1_uc022amz.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CAATAATAAGGAGCTCATTAT	0.358000														129			10		0	0	0.000151284	0	0
HEXDC	284004	broad.mit.edu	37	17	80395108	80395108	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:80395108G>A	uc002kev.4	+	7	1184	c.768G>A	c.(766-768)aaG>aaA	p.K256K	HEXDC_uc002kew.3_Silent_p.K256K|HEXDC_uc010wvm.2_Non-coding_Transcript|HEXDC_uc010wvn.1_Silent_p.K19K	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	256					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTGCCTTCAAGGGTGCCACGG	0.672000														99			10		0	0	0.000673444	0	0
EMR1	2015	broad.mit.edu	37	19	6901965	6901965	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr19:6901965C>T	uc002mfw.3	+	5	632	c.594C>T	c.(592-594)ttC>ttT	p.F198F	EMR1_uc010dvc.3_Silent_p.F198F|EMR1_uc010dvb.3_Silent_p.F146F|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	198	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACTCTTGTTTCTGCAACCCAG	0.483000														185			6		0	0	0.000442599	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421872	153421872	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:153421872C>T	uc004fjz.4	+	4	881	c.848C>T	c.(847-849)cCc>cTc	p.P283L		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	283					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTGGGGACCCTACACCTTC	0.557000														103			13		0	0	0.000151284	0	0
RNF25	64320	broad.mit.edu	37	2	219532830	219532830	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:219532830G>A	uc002vit.3	-	3	347	c.259C>T	c.(259-261)Cga>Tga	p.R87*	RNF25_uc010fvw.3_5'UTR	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	87	RWD.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.P86L(1)|p.R87L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAAGTCCTCGGGGATTTCGG	0.517000														250			7		0	0	0.000274275	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028564	27028564	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:27028564C>T	uc010crt.3	+	37	5294	c.5102C>T	c.(5101-5103)tCc>tTc	p.S1701F	SUPT6H_uc002hby.3_Missense_Mutation_p.S1701F	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1701					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCTCGGCCCTCCCCCAGCCCC	0.627000														50			4		0	0	0.00024832	0	0
MANSC1	54682	broad.mit.edu	37	12	12496068	12496068	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:12496068C>T	uc001rai.1	-	1	439	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	MANSC1_uc001raj.1_Missense_Mutation_p.E27K	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	61	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATGCAGTCTTCTTGAGTTGAA	0.393000														103			6		0	0	3.59834e-05	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290960	141290960	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:141290960C>T	uc022cfj.1	-	0	814	c.814G>A	c.(814-816)Gag>Aag	p.E272K	MAGEC2_uc004fbu.2_Missense_Mutation_p.E272K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	272	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGGAGCTCCCTAGGCTCC	0.542000										HNSCC(46;0.14)				39			4		0	0	0.00024832	0	0
INHBB	3625	broad.mit.edu	37	2	121106722	121106722	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:121106722G>A	uc002tmn.2	+	1	542	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	166					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CATCTCCAACGAAGGCAACCA	0.582000														70			5		0	0	0.000602214	0	0
ATP10B	23120	broad.mit.edu	37	5	160097641	160097641	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:160097641C>T	uc003lym.1	-	6	1351	c.504G>A	c.(502-504)aaG>aaA	p.K168K	ATP10B_uc003lyp.2_Silent_p.K168K|ATP10B_uc011deg.1_Silent_p.K212K|ATP10B_uc003lyo.2_Silent_p.K140K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	168					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCGCACATCCTTCCAGCACT	0.458000														114			5		0	0	3.59834e-05	0	0
FGD6	55785	broad.mit.edu	37	12	95604851	95604851	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:95604851G>A	uc001tdp.4	-	1	433	c.209C>T	c.(208-210)tCg>tTg	p.S70L	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	70					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCTTGATGGCGACTGCCCAAT	0.418000														268			12		0	0	0.000151284	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011545	105011545	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:105011545G>A	uc004elz.1	+	10	2708	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	651					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.N650Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTACTCAACGGACAGCTACCC	0.458000														62			5		0	0	3.59834e-05	0	0
NF2	4771	broad.mit.edu	37	22	30050714	30050714	+	Splice_Site	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:30050714G>A	uc003age.4	+	5	959	c.516_splice	c.e5+1	p.R172_splice	NF2_uc003afy.4_Splice_Site_p.R172_splice|NF2_uc003afz.4_Splice_Site_p.R89_splice|NF2_uc003agf.4_Splice_Site_p.R172_splice|NF2_uc003agb.4_Splice_Site_p.R95_splice|NF2_uc003agc.4_Splice_Site_p.R134_splice|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Splice_Site_p.R172_splice|NF2_uc003aga.4_Splice_Site_p.R130_splice|NF2_uc003agh.4_Splice_Site_p.R131_splice|NF2_uc003agi.4_Splice_Site_p.R89_splice|NF2_uc003agj.4_Intron	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	172	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCCAAAAAGGGTAAGAGATT	0.423000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2					95			6		0	0	0.000157383	0	0
CWH43	80157	broad.mit.edu	37	4	48996702	48996702	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:48996702C>T	uc003gyv.3	+	4	760	c.578C>T	c.(577-579)cCc>cTc	p.P193L	CWH43_uc011bzl.2_Missense_Mutation_p.P166L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	193					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCCTCTAGACCCAACTGGCTG	0.478000														96			5		0	0	0.000602214	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077842	19077842	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:19077842C>T	uc001mph.3	-	1	196	c.108G>A	c.(106-108)ctG>ctA	p.L36L	MRGPRX2_uc021qer.1_Silent_p.L36L	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	36					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TGAAAAGGATCAGGAAGACCG	0.562000														127			8		0	0	0.000157383	0	0
TRPC5	7224	broad.mit.edu	37	X	111155615	111155615	+	Silent	SNP	G	A	A	rs146697323		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:111155615G>A	uc004epl.1	-	2	1723	c.804C>T	c.(802-804)atC>atT	p.I268I	TRPC5_uc004epm.1_Silent_p.I268I	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	268					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATGGTTGAGGATGATCTCCA	0.512000														95			6		0	0	8.12818e-05	0	0
RPTN	126638	broad.mit.edu	37	1	152128228	152128228	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:152128228G>A	uc001ezs.1	-	2	1412	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	449	Gln-rich.					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						GACCATAGTGGGAATTCTGGC	0.542000														533			13		0	0	0.000308642	0	0
CWH43	80157	broad.mit.edu	37	4	49040101	49040101	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:49040101G>A	uc003gyv.3	+	12	1889	c.1707G>A	c.(1705-1707)ctG>ctA	p.L569L	CWH43_uc011bzl.2_Silent_p.L542L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	569					GPI anchor biosynthetic process	integral to membrane		p.L568R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CAAAACTACTGAAAAGTAGCT	0.358000														266			11		0	0	0.000151284	0	0
MYH2	4620	broad.mit.edu	37	17	10433048	10433048	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:10433048G>A	uc010coi.3	-	23	3078	c.2950C>T	c.(2950-2952)Ctc>Ttc	p.L984F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.L984F|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	984					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L984I(2)		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						TCTTCTGTGAGGTTTTTCACC	0.468000														158			7		0	0	0.000157383	0	0
MXRA5	25878	broad.mit.edu	37	X	3241234	3241234	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:3241234G>A	uc004crg.4	-	4	2649	c.2492C>T	c.(2491-2493)cCt>cTt	p.P831L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	831						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)				TGTCTGCACAGGAGATGCTGA	0.498000														37			6		0	0	0.000157383	0	0
CDCA7L	55536	broad.mit.edu	37	7	21946009	21946010	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:21946009_21946010CC>TT	uc010kuk.3	-	5	938_939	c.818_819GG>AA	c.(817-819)cgg>cAA	p.R273Q	CDCA7L_uc003sve.4_Missense_Mutation_p.R239Q|CDCA7L_uc010kul.3_Missense_Mutation_p.R227Q|CDCA7L_uc003svf.4_Missense_Mutation_p.R272Q	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	273					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCCGCGCACTCCGGGTTGGGTT	0.530000														117			6		0	0	6.4e-05	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545731	234545731	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:234545731C>T	uc002vur.3	+	0	609	c.563C>T	c.(562-564)tCc>tTc	p.S188F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S188F	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	191					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCTCCTCTTTCCTATGTCCCC	0.463000														141			8		0	0	0.000157383	0	0
COL4A3	1285	broad.mit.edu	37	2	228149036	228149036	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:228149036G>A	uc002vom.2	+	33	3018	c.2856G>A	c.(2854-2856)ggG>ggA	p.G952G	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	952	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)		ACGTAATAGGGGACAAAGGAG	0.473000														59			5		0	0	0.000157383	0	0
CWH43	80157	broad.mit.edu	37	4	48996774	48996774	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:48996774C>T	uc003gyv.3	+	4	832	c.650C>T	c.(649-651)tCt>tTt	p.S217F	CWH43_uc011bzl.2_Missense_Mutation_p.S190F	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	217					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGAGAAGTCTCTCTTGTTTCC	0.547000														84			5		0	0	0.000602214	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046282	69046282	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:69046282C>T	uc010fdg.3	+	8	1450	c.1031C>T	c.(1030-1032)aCt>aTt	p.T344I	ARHGAP25_uc010yql.2_Missense_Mutation_p.T304I|ARHGAP25_uc002sev.3_Missense_Mutation_p.T337I|ARHGAP25_uc002sew.3_Missense_Mutation_p.T336I|ARHGAP25_uc002sex.3_Missense_Mutation_p.T337I	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	343	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGAGTGATGACTATGATGATC	0.507000														216			6		0	0	0.000157383	0	0
TMIGD1	388364	broad.mit.edu	37	17	28652031	28652031	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:28652031T>C	uc002hfa.1	-	3	516	c.443A>G	c.(442-444)aAc>aGc	p.N148S	TMIGD1_uc010csh.1_Missense_Mutation_p.N148S	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 1 (TMIGD1), mRNA.	148	Ig-like C2-type 2.					integral to membrane		p.A147T(2)		breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						AGCCTGGGGGTTGGCTTTCAC	0.443000														134			8		0	0	0.000442599	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47978927	47978927	+	RNA	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:47978927G>A	uc022bvt.1	+	6		c.550G>A				NM_001205103		B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										ACCCAAAAGGGGGAAACATGC	0.507000														146			7		0	0	0.000442599	0	0
ABCC8	6833	broad.mit.edu	37	11	17482096	17482096	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:17482096G>A	uc001mnc.3	-	5	1076	c.950C>T	c.(949-951)cCa>cTa	p.P317L	ABCC8_uc010rcy.1_Missense_Mutation_p.P316L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	317	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.G316R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GATGCACAGTGGCCCGGCGAA	0.642000														198			11		0	0	6.40141e-05	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950589	123950589	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:123950589T>A	uc021rfv.1	+	1	567	c.517T>A	c.(517-519)Ttg>Atg	p.L173M	SNRNP35_uc001ufb.1_Missense_Mutation_p.L168M|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Missense_Mutation_p.L168M	NM_180699	NP_073208	Q16560	U1SBP_HUMAN	Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA.	168	Arg-rich.				mRNA processing	U12-type spliceosomal complex	RNA binding|nucleotide binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ACCTATTAACTTGCCAGTTGT	0.542000														67			7		0	0	8.12818e-05	0	0
ZNF516	9658	broad.mit.edu	37	18	74091513	74091513	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr18:74091513G>A	uc021ulp.1	-	3	2875	c.2557C>T	c.(2557-2559)Ccc>Tcc	p.P853S	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P853L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACTCCCAGGGGAGAAGAGCCA	0.632000														94			5		0	0	0.000602214	0	0
NME9	347736	broad.mit.edu	37	3	138037049	138037049	+	Missense_Mutation	SNP	G	A	A	rs138728298		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:138037049G>A	uc003esg.3	-	3	236	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Missense_Mutation_p.R48C	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	70	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ACATCAAGACGATCTGCCTCT	0.473000														341			10		0	0	0.000219431	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295218	120295218	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:120295218C>T	uc001eid.3	-	7	1462	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	HMGCS2_uc010oxj.2_Silent_p.E416E|HMGCS2_uc021osw.1_Silent_p.E224E	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	458					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CTGTGAACTCCTCAGGAGACA	0.488000														442			9		0	0	0.000673444	0	0
BIRC6	57448	broad.mit.edu	37	2	32800289	32800289	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:32800289C>T	uc010ezu.3	+	65	13345	c.13211C>T	c.(13210-13212)tCt>tTt	p.S4404F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4404					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)					GCCATTGCTTCTTGTGCTGCC	0.463000														208			12		0	0	0.000151284	0	0
PPT2	9374	broad.mit.edu	37	6	32123668	32123668	+	Silent	SNP	C	T	T	rs139503026	by1000genomes	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:32123668C>T	uc003nzw.3	+	4	647	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	PRRT1_uc003nzu.3_5'Flank|PRRT1_uc021yvi.1_5'Flank|PRRT1_uc021yvj.1_5'Flank|PRRT1_uc003nzv.3_5'Flank|PRRT1_uc021yvk.1_5'Flank|PPT2_uc003nzx.3_Silent_p.L152L|PPT2_uc003nzz.3_Silent_p.L152L|PPT2_uc021yvl.1_Silent_p.L29L|EGFL8_uc003nzy.2_Non-coding_Transcript|PPT2_uc010jtu.1_Silent_p.L152L	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	152					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.L158P(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CTTGAAGTGGCTGTTCCCCAC	0.532000														218			7		0	0	0.000274275	0	0
ZZEF1	23140	broad.mit.edu	37	17	3917793	3917793	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:3917793G>A	uc002fxe.3	-	49	8226	c.8162C>T	c.(8161-8163)cCt>cTt	p.P2721L	ZZEF1_uc002fxg.1_Missense_Mutation_p.P42L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2721							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATGGCACCAGGAATGTGAAC	0.522000														95			6		0	0	8.12818e-05	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518020	113518020	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:113518020C>T	uc010ljy.1	-	3	3158	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1043					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						GATTCCTTTTCACCTGAAGTG	0.378000														193			13		0	0	0.000219431	0	0
ITFG3	83986	broad.mit.edu	37	16	309980	309980	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:309980C>T	uc002cgf.3	+	4	593	c.398C>T	c.(397-399)cCc>cTc	p.P133L	LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Non-coding_Transcript|ITFG3_uc002cgg.2_Missense_Mutation_p.P133L|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Missense_Mutation_p.P133L	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	133						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TTTTCCTCTCCCTGCACCTTT	0.642000														36			4		0	0	0.000602214	0	0
WEE2	494551	broad.mit.edu	37	7	141427191	141427191	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:141427191G>A	uc003vwn.2	+	9	1886	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Non-coding_Transcript|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	494					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)					GGGAAAAACAGAAGAGCTCCA	0.468000														148			9		0	0	0.00010058	0	0
BPIFC	254240	broad.mit.edu	37	22	32828476	32828476	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:32828476C>T	uc003amn.2	-	9	1033	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Missense_Mutation_p.E69K	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	345						extracellular region	lipopolysaccharide binding|phospholipid binding										ATGGGAGGCTCTGTGGCCATG	0.488000														88			13		0	0	0.000422831	0	0
ZNF860	344787	broad.mit.edu	37	3	32031038	32031038	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:32031038G>A	uc011axg.2	+	1	1016	c.467G>A	c.(466-468)gGa>gAa	p.G156E	ZNF860_uc021wuv.1_Missense_Mutation_p.G156E	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GATCAGCTTGGATTAAGCTTT	0.413000														76			5		0	0	3.59834e-05	0	0
A4GNT	51146	broad.mit.edu	37	3	137849913	137849913	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:137849913C>T	uc003ers.2	-	1	388	c.186G>A	c.(184-186)gaG>gaA	p.E62E		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	62					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AATGGGGTGGCTCCATTCTCT	0.522000														272			7		0	0	0.000157383	0	0
NCAPD3	23310	broad.mit.edu	37	11	134054884	134054884	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:134054884G>A	uc001qhd.1	-	17	2855	c.2249C>T	c.(2248-2250)cCc>cTc	p.P750L	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	750					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.P750P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GTTTGAATTGGGATTCTGCTG	0.453000														217			8		0	0	0.000157383	0	0
IFNAR2	3455	broad.mit.edu	37	21	34621123	34621123	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr21:34621123C>T	uc002yrd.3	+	5	832	c.504C>T	c.(502-504)ctC>ctT	p.L168L	IFNAR2_uc002yrb.3_Silent_p.L168L|IFNAR2_uc002yrc.3_Silent_p.L168L|IFNAR2_uc002yre.3_Silent_p.L168L|IFNAR2_uc002yrf.3_Silent_p.L168L|IFNAR2_uc002yri.1_5'UTR|IFNAR2_uc002yrh.1_Silent_p.L18L	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	168					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	ATTTATCTCTCGTCATTGAAG	0.388000														140			9		0	0	0.000442599	0	0
C10orf12	26148	broad.mit.edu	37	10	98742291	98742292	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:98742291_98742292CC>TA	uc001kmv.3	+	0	1251_1252	c.1144_1145CC>TA	c.(1144-1146)cct>TAt	p.P382Y	C10orf12_uc009xvg.2_Missense_Mutation_p.P692Y	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	382										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCCTCATTCTCCTCCTGAAATA	0.520000														62			7		0	0	6.4e-05	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58010635	58010635	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:58010635C>T	uc001spb.3	+	14	2161	c.1701C>T	c.(1699-1701)ccC>ccT	p.P567P	ARHGEF25_uc009zpy.3_Silent_p.P606P|ARHGEF25_uc001spa.3_Silent_p.P461P|BC073932_uc001spc.3_Intron	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	567					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AAACCCCTCCCTGCCAAGCCA	0.537000														129			10		0	0	0.000673444	0	0
GKAP1	80318	broad.mit.edu	37	9	86354657	86354657	+	Silent	SNP	A	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:86354657A>C	uc004amy.3	-	12	1552	c.1056T>G	c.(1054-1056)ggT>ggG	p.G352G	GKAP1_uc004amz.3_Silent_p.G301G	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	352					signal transduction	Golgi apparatus		p.G352G(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CTTTTCTGCCACCCTGTAAAA	0.343000														35			7		0	0	0.000308642	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714658	92714658	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:92714658C>T	uc001pdk.1	+	1	372	c.269C>T	c.(268-270)gCc>gTc	p.A90V		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	90					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)	CTGGTGGTGGCCTTCTACCCC	0.572000														361			11		0	0	0.000151284	0	0
DPP10	57628	broad.mit.edu	37	2	116594124	116594124	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:116594124G>A	uc002tle.3	+	22	2125	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	DPP10_uc002tla.2_Missense_Mutation_p.E698K|DPP10_uc002tlb.2_Missense_Mutation_p.E648K|DPP10_uc002tlc.2_Missense_Mutation_p.E694K|DPP10_uc002tlf.2_Missense_Mutation_p.E691K	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	698					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						GCCATCTAAGGAAGAAAGCAC	0.328000														195			7		0	0	8.12818e-05	0	0
OR52E6	390078	broad.mit.edu	37	11	5862204	5862204	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:5862204G>A	uc010qzq.2	-	0	924	c.924C>T	c.(922-924)ttC>ttT	p.F308F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCTTGAAGAAAATCCTCA	0.443000														102			5		0	0	3.59834e-05	0	0
OR4D9	390199	broad.mit.edu	37	11	59282476	59282476	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:59282476C>T	uc010rkv.2	+	0	91	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATTTACCTTCCTGTTTTTGGT	0.433000														123			6		0	0	8.12818e-05	0	0
EPHB1	2047	broad.mit.edu	37	3	134670867	134670867	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:134670867G>A	uc003eqt.3	+	2	1153	c.778G>A	c.(778-780)Gag>Aag	p.E260K	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	260	Cys-rich.					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						GCCTGGCTATGAGCCTGAGAA	0.562000														139			8		0	0	0.000274275	0	0
ITK	3702	broad.mit.edu	37	5	156671378	156671378	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:156671378C>T	uc003lwo.1	+	12	1421	c.1339C>T	c.(1339-1341)Cta>Tta	p.L447L		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	447	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCAGATTATCTACGCACCCA	0.577000			T	SYK	peripheral T-cell lymphoma									335			12		0	0	0.000219431	0	0
HTRA4	203100	broad.mit.edu	37	8	38839233	38839233	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:38839233C>T	uc003xmj.3	+	5	1176	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	354	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TTTGCAATTCCTTCAGATCGA	0.428000														125			8		0	0	0.000673444	0	0
NEK6	10783	broad.mit.edu	37	9	127089717	127089717	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:127089717C>T	uc004boh.3	+	7	978	c.717C>T	c.(715-717)caC>caT	p.H239H	NEK6_uc004bof.3_Silent_p.H223H|NEK6_uc004bog.3_Silent_p.H205H|NEK6_uc010mwk.3_Silent_p.H205H|NEK6_uc022bnf.1_Silent_p.H239H|NEK6_uc004boi.3_Silent_p.H205H|NEK6_uc022bng.1_Silent_p.H230H	NM_001145001	NP_055212	Q9HC98	NEK6_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 6 (NEK6), transcript variant 1, mRNA.	205	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CCGCAGCCCACTCCCTAGGTA	0.617000														63			5		0	0	3.59834e-05	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424916	89424916	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:89424916C>T	uc002bnd.3	-	3	432	c.351G>A	c.(349-351)gaG>gaA	p.E117E	HAPLN3_uc002bnc.3_Silent_p.E55E|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	55	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACAGGGTCTCCTCGGGTGTCT	0.617000														35			4		0	0	0.000602214	0	0
MEIS2	4212	broad.mit.edu	37	15	37184437	37184438	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:37184437_37184438GG>TT	uc001zjr.3	-	11	2444_2445	c.1370_1371CC>AA	c.(1369-1371)ccc>cAA	p.P457Q	MEIS2_uc001zjl.3_3'UTR|MEIS2_uc010ucj.2_Missense_Mutation_p.P437Q|MEIS2_uc001zjm.3_3'UTR|MEIS2_uc001zjn.3_3'UTR|MEIS2_uc001zjo.3_3'UTR|MEIS2_uc001zjp.3_3'UTR|MEIS2_uc001zjs.3_Missense_Mutation_p.P450Q|MEIS2_uc001zju.3_3'UTR|MEIS2_uc001zjt.3_Missense_Mutation_p.P450Q|MEIS2_uc001zjj.3_Missense_Mutation_p.P153Q|MEIS2_uc001zjk.3_Missense_Mutation_p.P146Q	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	457					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)		TTAACATTGTGGGGCTCTGTGC	0.490000														248			9		0	0	6.4e-05	0	0
SYBU	55638	broad.mit.edu	37	8	110590212	110590212	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:110590212G>A	uc010mcp.3	-	6	1131	c.769C>T	c.(769-771)Cat>Tat	p.H257Y	SYBU_uc003yni.4_Missense_Mutation_p.H254Y|SYBU_uc003ynk.4_Missense_Mutation_p.H138Y|SYBU_uc003ynj.4_Missense_Mutation_p.H257Y|SYBU_uc010mco.3_Missense_Mutation_p.H256Y|SYBU_uc003ynl.4_Missense_Mutation_p.H256Y|SYBU_uc010mcq.3_Missense_Mutation_p.H257Y|SYBU_uc003yno.4_Missense_Mutation_p.H138Y|SYBU_uc010mcr.3_Missense_Mutation_p.H257Y|SYBU_uc003ynm.4_Missense_Mutation_p.H256Y|SYBU_uc003ynn.4_Missense_Mutation_p.H256Y|SYBU_uc010mcs.3_Missense_Mutation_p.H138Y|SYBU_uc010mct.3_Missense_Mutation_p.H257Y|SYBU_uc010mcu.3_Missense_Mutation_p.H256Y|SYBU_uc003ynp.4_Missense_Mutation_p.H189Y|SYBU_uc010mcv.3_Missense_Mutation_p.H257Y|SYBU_uc003ynh.4_Missense_Mutation_p.H51Y|SYBU_uc011lhw.2_Missense_Mutation_p.H127Y	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	257	Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|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						CTGACACCATGATTTTCACCG	0.438000														169			8		0	0	0.000442599	0	0
AK302879	0	broad.mit.edu	37	15	76074470	76074470	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:76074470A>G	uc010umm.1	+	7	649	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;									p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000														26			4		0	0	0.000673444	0	0
EP400	57634	broad.mit.edu	37	12	132505635	132505635	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:132505635C>T	uc001ujn.3	+	22	4611	c.4459C>T	c.(4459-4461)Ccg>Tcg	p.P1487S	EP400_uc021rgq.1_Missense_Mutation_p.P1486S|EP400_uc001ujm.3_Intron	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1523					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		AGCAGCAGCCCCGTTTCAGAC	0.498000														79			5		0	0	0.000602214	0	0
ESRP1	54845	broad.mit.edu	37	8	95686589	95686589	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:95686589T>A	uc003ygq.4	+	11	1689	c.1506T>A	c.(1504-1506)ttT>ttA	p.F502L	ESRP1_uc003ygr.4_Missense_Mutation_p.F502L|ESRP1_uc003ygs.4_Missense_Mutation_p.F502L|ESRP1_uc003ygt.4_Missense_Mutation_p.F502L|ESRP1_uc003ygu.4_Missense_Mutation_p.F502L|ESRP1_uc003ygv.3_Missense_Mutation_p.F342L|ESRP1_uc003ygw.3_Missense_Mutation_p.F342L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	502	RRM 3.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ACAGAGCATTTATGGCTGCAC	0.453000														388			14		0	0	0.000566183	0	0
TNFSF8	944	broad.mit.edu	37	9	117692442	117692442	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:117692442G>A	uc004bji.2	-	0	434	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	TNFSF8_uc022bmi.1_Silent_p.L48L	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	48					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						ACAAGGCACAGAGCCAGAGTG	0.567000														79			6		0	0	3.59834e-05	0	0
MYH2	4620	broad.mit.edu	37	17	10435045	10435045	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:10435045C>T	uc010coi.3	-	21	2730	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E868K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	868					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E868K(2)|p.D867D(1)		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						TTGGCAAGTTCGTCTTTAATT	0.428000														118			6		0	0	8.12818e-05	0	0
KLHDC5	57542	broad.mit.edu	37	12	27944754	27944754	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:27944754C>T	uc001rij.3	+	1	1063	c.986C>T	c.(985-987)cCc>cTc	p.P329L		NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	Homo sapiens kelch domain containing 5 (KLHDC5), mRNA.	329										breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|urinary_tract(1)	23	Lung SC(9;0.0873)					TTTGTGGCGCCCTTACCCAAT	0.488000														197			8		0	0	0.000442599	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617408	77617408	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:77617408G>A	uc003yau.2	+	1	1472	c.1085G>A	c.(1084-1086)gGt>gAt	p.G362D	ZFHX4_uc003yat.1_Missense_Mutation_p.G362D|ZFHX4_uc003yaw.1_Missense_Mutation_p.G362D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	362						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)			ACCTTCCGCGGTTTATGGAGC	0.468000										HNSCC(33;0.089)				84			7		0	0	0.000157383	0	0
EXO1	9156	broad.mit.edu	37	1	242016693	242016693	+	Silent	SNP	A	G	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:242016693A>G	uc021plj.1	+	3	629	c.315A>G	c.(313-315)caA>caG	p.Q105Q	EXO1_uc001hzh.3_Silent_p.Q105Q|EXO1_uc009xgq.3_Silent_p.Q105Q|EXO1_uc021plk.1_Silent_p.Q105Q	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	105					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGGGAAAGCAACTTCTTCGTG	0.398000								Editing and processing nucleases						95			4		0	0	0.00024832	0	0
FNDC4	64838	broad.mit.edu	37	2	27716322	27716322	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:27716322C>T	uc002rkx.3	-	4	884	c.478G>A	c.(478-480)Gat>Aat	p.D160N		NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	160						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CGCTCTCCATCCAGACCTTCC	0.567000														154			7		0	0	0.000157383	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64128627	64128627	+	Silent	SNP	C	T	T	rs149154456		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:64128627C>T	uc001oae.3	+	4	567	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	RPS6KA4_uc001oad.3_Silent_p.L162L|RPS6KA4_uc010rnl.2_Silent_p.L99L|RPS6KA4_uc001oaf.3_Silent_p.L162L|RPS6KA4_uc009ypp.3_Silent_p.L162L	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	162	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TTACCGAGACCTGAAACTGGA	0.612000														38			4		0	0	0.000602214	0	0
NEK11	79858	broad.mit.edu	37	3	130852771	130852771	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:130852771C>T	uc003eny.3	+	6	944	c.618C>T	c.(616-618)caC>caT	p.H206H	NEK11_uc003enx.3_Silent_p.H206H|NEK11_uc003eoa.3_Silent_p.H206H|NEK11_uc003enz.3_Silent_p.H24H|NEK11_uc011blk.2_Silent_p.H58H|NEK11_uc011bll.2_Silent_p.H206H|NEK11_uc003enw.1_Silent_p.H206H|NEK11_uc011blm.2_Silent_p.H206H|NEK11_uc010hto.2_Silent_p.H58H	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	206	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTCTGAAACACCAAGGCTATG	0.458000														93			6		0	0	3.59834e-05	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295223	120295223	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:120295223G>A	uc001eid.3	-	7	1457	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	HMGCS2_uc010oxj.2_Missense_Mutation_p.P415S|HMGCS2_uc021osw.1_Missense_Mutation_p.P223S	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	457					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AACTCCTCAGGAGACACACAC	0.478000														441			10		0	0	0.00010058	0	0
CYLC1	1538	broad.mit.edu	37	X	83128266	83128266	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:83128266G>A	uc004eei.1	+	3	571	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	CYLC1_uc004eeh.1_Missense_Mutation_p.E183K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	184					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AACTAATCCAGAATCCCAAAA	0.308000														36			5		0	0	3.59834e-05	0	0
PRKAG3	53632	broad.mit.edu	37	2	219696074	219696074	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:219696074C>T	uc002vjb.1	-	1	77	c.58G>A	c.(58-60)Ggt>Agt	p.G20S	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Missense_Mutation_p.G20S|PRKAG3_uc010zko.1_Missense_Mutation_p.G20S	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	20					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTCAGAACCCCCAAGGCTG	0.587000														7			3		0	0	6.4e-05	0	0
KCNH7	90134	broad.mit.edu	37	2	163374572	163374572	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:163374572G>A	uc002uch.2	-	3	789	c.560C>T	c.(559-561)tCa>tTa	p.S187L	KCNH7_uc002uci.3_Missense_Mutation_p.S187L	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	187					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTGTTTAGATGAATCGATGAC	0.423000														101			9		0	0	0.000673444	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170211	32170211	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:32170211C>T	uc003obb.3	-	20	3536	c.3397G>A	c.(3397-3399)Ggc>Agc	p.G1133S	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1133	EGF-like 29.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|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						GGGCCACAGCCTTTAGGAGCT	0.647000														200			8		0	0	6.40141e-05	0	0
C6	729	broad.mit.edu	37	5	41203209	41203209	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:41203209C>T	uc003jmk.2	-	1	334	c.124G>A	c.(124-126)Gga>Aga	p.G42R	C6_uc003jml.1_Missense_Mutation_p.G42R	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	42	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G42E(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCTGGGTTCCAGAATTGCAA	0.493000														211			11		0	0	6.40141e-05	0	0
TTC14	151613	broad.mit.edu	37	3	180327806	180327806	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:180327806C>T	uc003fkk.3	+	11	1921	c.1789C>T	c.(1789-1791)Cca>Tca	p.P597S	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Intron	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	597							RNA binding	p.D596Y(2)|p.D596N(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTCTGAAGATCCAAGAGATTT	0.358000														364			8		0	0	6.40141e-05	0	0
ITGAM	3684	broad.mit.edu	37	16	31332869	31332869	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:31332869G>A	uc002ebr.3	+	15	2024	c.1926G>A	c.(1924-1926)caG>caA	p.Q642Q	ITGAM_uc002ebq.3_Silent_p.Q641Q|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Silent_p.Q47Q|ITGAM_uc002ebs.1_Silent_p.Q47Q	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	641					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTAATGATCAGGTGGTGAAAG	0.522000														160			8		0	0	0.000274275	0	0
GRIK4	2900	broad.mit.edu	37	11	120776137	120776137	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:120776137G>A	uc001pxn.2	+	12	1698	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	GRIK4_uc009zav.1_Missense_Mutation_p.G471S|GRIK4_uc009zaw.1_Missense_Mutation_p.G471S|GRIK4_uc009zax.1_Missense_Mutation_p.G471S	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	471					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGTTGGGGATGGCGTGTACGG	0.597000														83			6		0	0	0.000157383	0	0
KCNA1	3736	broad.mit.edu	37	12	5021671	5021671	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:5021671G>A	uc001qnh.3	+	1	2232	c.1127G>A	c.(1126-1128)gGt>gAt	p.G376D	KCNA1_uc021qts.1_Missense_Mutation_p.G376D	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	376					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.G376C(2)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTAGGATACGGTGACATGTAC	0.557000														174			8		0	0	0.000157383	0	0
DMD	1756	broad.mit.edu	37	X	32472871	32472871	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:32472871C>T	uc004dda.1	-	25	3755	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K	DMD_uc004dcz.2_Missense_Mutation_p.E1048K|DMD_uc004dcy.1_Missense_Mutation_p.E1167K|DMD_uc004ddb.1_Missense_Mutation_p.E1163K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1171					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1166K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCATCCATTCGTGCATCTCT	0.388000														78			5		0	0	0.000602214	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43933474	43933475	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:43933474_43933475CC>TT	uc010yny.2	+	9	1823_1824	c.1740_1741CC>TT	c.(1738-1743)accctt>acTTtt	p.L581F	PLEKHH2_uc002rte.3_Missense_Mutation_p.L581F|PLEKHH2_uc002rtf.3_Missense_Mutation_p.L580F	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	581						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGCTGCAACCCTTTCCTATAC	0.337000														494			10		0	0	6.4e-05	0	0
ACE2	59272	broad.mit.edu	37	X	15580108	15580108	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:15580108G>A	uc004cxa.1	-	17	2506	c.2338C>T	c.(2338-2340)Cct>Tct	p.P780S	ACE2_uc004cxb.2_Missense_Mutation_p.P780S	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	780					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GAGGCATAAGGATTTTCTCCA	0.328000														42			5		0	0	3.59834e-05	0	0
FAM13C	220965	broad.mit.edu	37	10	61062593	61062593	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:61062593C>T	uc010qif.1	-	4	607	c.541G>A	c.(541-543)Gat>Aat	p.D181N	FAM13C_uc010qid.2_Missense_Mutation_p.D76N|FAM13C_uc001jkn.3_Missense_Mutation_p.D159N|FAM13C_uc001jko.3_Missense_Mutation_p.D159N|FAM13C_uc010qie.2_Missense_Mutation_p.D76N|FAM13C_uc001jkp.3_Missense_Mutation_p.D76N	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	159										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCAAAAGCATCCTTTGGCGAA	0.343000														158			6		0	0	8.12818e-05	0	0
MEOX1	4222	broad.mit.edu	37	17	41738457	41738457	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:41738457G>A	uc002idz.3	-	0	475	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MEOX1_uc002iea.3_Missense_Mutation_p.S149F|MEOX1_uc002ieb.3_Missense_Mutation_p.S34F	NM_004527	NP_001035091	P50221	MEOX1_HUMAN	Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.	149						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)		TCTCCGCCTGGATGATTTCTT	0.577000														169			8		0	0	6.40141e-05	0	0
FCRL5	83416	broad.mit.edu	37	1	157514089	157514089	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:157514089G>A	uc009wsm.3	-	4	965	c.807C>T	c.(805-807)gtC>gtT	p.V269V	FCRL5_uc001fqu.3_Silent_p.V269V|FCRL5_uc010phv.1_Silent_p.V269V|FCRL5_uc010phw.1_Silent_p.V184V|FCRL5_uc001fqv.1_Silent_p.V269V|FCRL5_uc010phx.2_Silent_p.V20V	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	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														151			7		0	0	0.000274275	0	0
DNAH10	196385	broad.mit.edu	37	12	124419917	124419917	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:124419917G>A	uc001uft.4	+	77	13330	c.13305G>A	c.(13303-13305)atG>atA	p.M4435I	DNAH10_uc001ufu.4_Missense_Mutation_p.M348I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4435					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)		CCACCTCCATGAGAAGGAACG	0.552000														74			6		0	0	3.59834e-05	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961756	26961756	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:26961756G>A	uc002hbu.3	-	15	2952	c.2849C>T	c.(2848-2850)tCc>tTc	p.S950F		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	950						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAGACGACGGGAACGCTGGAT	0.542000														57			5		0	0	0.000602214	0	0
RFPL3	10738	broad.mit.edu	37	22	32756308	32756308	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:32756308G>A	uc003amj.3	+	1	648	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	RFPL3_uc010gwn.3_Missense_Mutation_p.R119Q|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	148	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						AGGAGCGTCCGAAGTGGGCTC	0.537000														66			10		0	0	0.00010058	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33414468	33414468	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:33414468C>T	uc011dri.2	+	16	3894	c.3699C>T	c.(3697-3699)atC>atT	p.I1233I	SYNGAP1_uc010juy.3_Silent_p.I1202I|SYNGAP1_uc010juz.3_Silent_p.I945I	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	1233					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCAGCAAAATCCTGATGCAGT	0.537000														37			6		0	0	3.59834e-05	0	0
GRIA2	2891	broad.mit.edu	37	4	158257677	158257677	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:158257677C>T	uc003ipm.4	+	10	2081	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L	GRIA2_uc011cit.2_Missense_Mutation_p.P494L|GRIA2_uc003ipl.4_Missense_Mutation_p.P541L|GRIA2_uc003ipk.4_Missense_Mutation_p.P494L|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	541					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	p.L542fs*16(1)		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)	TTTCTTGATCCTTTAGCCTAT	0.453000														139			9		0	0	0.000673444	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764363	120764363	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:120764363C>T	uc003eec.4	+	4	591	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F	STXBP5L_uc011bji.2_Missense_Mutation_p.L151F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	151					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)		ACTCCATTCTCTTAAATTTAA	0.358000														228			9		0	0	0.000673444	0	0
OR2A14	135941	broad.mit.edu	37	7	143826607	143826607	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:143826607C>T	uc011kua.2	+	0	402	c.402C>T	c.(400-402)ctC>ctT	p.L134L		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ACAATAGCCTCATGAGCTGGA	0.517000														124			6		0	0	0.000157383	0	0
CTR9	9646	broad.mit.edu	37	11	10792099	10792099	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:10792099A>T	uc001mja.3	+	17	2441	c.2292A>T	c.(2290-2292)ttA>ttT	p.L764F		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	764					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGCAAAGATTAGCTACCTCTG	0.358000														164			7		0	0	0.000157383	0	0
WEE2	494551	broad.mit.edu	37	7	141416068	141416068	+	Splice_Site	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:141416068G>A	uc003vwn.2	+	3	991	c.585_splice	c.e3+1	p.K195_splice	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	195					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)					GCCTGCCAAGGTAAGCGTAGT	0.453000														89			8		0	0	0.000673444	0	0
LAMP3	27074	broad.mit.edu	37	3	182870235	182870235	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:182870235C>T	uc003flh.4	-	2	1040	c.816G>A	c.(814-816)ggG>ggA	p.G272G		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	272					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGCCACAGTTCCCAGAGGCTT	0.448000														263			16		0	0	0.000132079	0	0
COG5	10466	broad.mit.edu	37	7	107053028	107053028	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:107053028A>C	uc003vec.2	-	6	1206	c.681T>G	c.(679-681)aaT>aaG	p.N227K	COG5_uc003ved.2_Missense_Mutation_p.N227K|COG5_uc003vee.2_Missense_Mutation_p.N227K	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	227					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding	p.E226G(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AAAGTAGATCATTTTCTATCA	0.323000														73			4		0	0	0.00024832	0	0
AWAT1	158833	broad.mit.edu	37	X	69458154	69458154	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:69458154G>A	uc004dxy.3	+	4	594	c.553G>A	c.(553-555)Gcc>Acc	p.A185T		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	185					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TGTGGGTGAGGCCCTGCAAAG	0.602000														23			5		0	0	0.000602214	0	0
SCG2	7857	broad.mit.edu	37	2	224462455	224462455	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:224462455G>A	uc021vxk.1	-	0	1546	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	SCG2_uc002vnm.3_Missense_Mutation_p.P516S	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	516					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATGATCTCAGGGTATTTAACT	0.433000														73			5		0	0	0.000602214	0	0
KDR	3791	broad.mit.edu	37	4	55960994	55960995	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:55960994_55960995GG>AA	uc003has.3	-	20	3247_3248	c.2945_2946CC>TT	c.(2944-2946)tcc>tTT	p.S982F	KDR_uc003hat.1_Missense_Mutation_p.S982F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	982	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CATCACTGAGGGACTTCTCCTC	0.515000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				117			6		0	0	6.4e-05	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869543	151869543	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:151869543C>T	uc022chf.1	+	0	233	c.233C>T	c.(232-234)cCt>cTt	p.P78L	MAGEA6_uc004ffq.1_Missense_Mutation_p.P78L|MAGEA6_uc004ffr.1_Missense_Mutation_p.P78L	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	78							protein binding	p.P78T(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAACTACCCTCTCTGGAGC	0.592000														19			4		0	0	0.000602214	0	0
USH2A	7399	broad.mit.edu	37	1	216251642	216251642	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:216251642C>T	uc001hku.1	-	26	5748	c.5361G>A	c.(5359-5361)gtG>gtA	p.V1787V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1787	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)		GCAATAGATCCACTTGTGTAA	0.343000										HNSCC(13;0.011)				371			11		0	0	0.00010058	0	0
ANK3	288	broad.mit.edu	37	10	61833786	61833786	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:61833786C>T	uc001jky.3	-	36	7191	c.6853G>A	c.(6853-6855)Gat>Aat	p.D2285N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2285					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						TTGGAAGGATCCCGCCCGGAC	0.488000														137			7		0	0	0.000274275	0	0
DISP1	84976	broad.mit.edu	37	1	223176169	223176169	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:223176169C>T	uc001hnu.2	+	9	1756	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	477					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)		AACTGGAACTCTTCTGACGGC	0.438000														521			10		0	0	6.40141e-05	0	0
OR9K2	441639	broad.mit.edu	37	12	55523878	55523878	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:55523878A>G	uc010spe.2	+	0	326	c.326A>G	c.(325-327)aAc>aGc	p.N109S		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GCTATGATCAACTTCTGGTCT	0.458000														138			6		0	0	3.59834e-05	0	0
KIAA1407	57577	broad.mit.edu	37	3	113761579	113761579	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:113761579T>C	uc003eax.3	-	3	533	c.386A>G	c.(385-387)aAt>aGt	p.N129S	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.N107S|KIAA1407_uc011bip.1_Missense_Mutation_p.N116S	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	129										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CAAATGGCCATTGGCTTCCGG	0.348000														72			4		0	0	0.000602214	0	0
FBXO43	286151	broad.mit.edu	37	8	101153416	101153416	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:101153416G>A	uc003yjd.3	-	1	1802	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*	FBXO43_uc003yje.3_Nonsense_Mutation_p.Q322*|FBXO43_uc010mbp.2_Nonsense_Mutation_p.Q356*	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	356					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTAGTTCTTGAAAAGAACCC	0.463000														128			8		0	0	0.000442599	0	0
FLG2	388698	broad.mit.edu	37	1	152323898	152323898	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:152323898A>G	uc001ezw.4	-	2	6437	c.6364T>C	c.(6364-6366)Tca>Cca	p.S2122P	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2122							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)			GTGTGTCCTGAATGTGTGTGT	0.527000														289			9		0	0	0.000442599	0	0
FAM40B	57464	broad.mit.edu	37	7	129093096	129093096	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:129093096C>T	uc011koy.2	+	4	478	c.438C>T	c.(436-438)gtC>gtT	p.V146V	FAM40B_uc003vow.3_Silent_p.V146V	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	146										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATTCAGAGGTCGATGTGCTAC	0.512000														84			5		0	0	3.59834e-05	0	0
PRB1	5542	broad.mit.edu	37	12	11506852	11506852	+	Missense_Mutation	SNP	G	T	T	rs151023240		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:11506852G>T	uc001qzw.1	-	2	222	c.185C>A	c.(184-186)cCa>cAa	p.P62Q	PRB1_uc001qzu.1_Missense_Mutation_p.P62Q|PRB1_uc001qzv.1_Missense_Mutation_p.P62Q	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	62	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.607000														172			8		0.000442599	0.00496616	0.000442599	1	0
DNAH3	55567	broad.mit.edu	37	16	21109965	21109965	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:21109965T>C	uc010vbe.2	-	16	2492	c.2492A>G	c.(2491-2493)aAc>aGc	p.N831S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	831	Stem (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)		CCGATTTAGGTTCTTTGAAAG	0.428000														118			5		0	0	8.12818e-05	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139726	142139726	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:142139726C>T	uc003vyt.3	-	0	90	c.45G>A	c.(43-45)ggG>ggA	p.G15G	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACTCACCTGTCCCTAGGAAAC	0.527000														71			5		0	0	8.12818e-05	0	0
FAM113B	91523	broad.mit.edu	37	12	47630006	47630006	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:47630006C>T	uc001rpq.3	+	1	1685	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	FAM113B_uc001rpn.3_Missense_Mutation_p.P387L|FAM113B_uc021qxi.1_Missense_Mutation_p.P387L	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	387	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					TTCCCCACACCCCGTTATCAG	0.567000														70			6		0	0	8.12818e-05	0	0
TACR3	6870	broad.mit.edu	37	4	104511113	104511113	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:104511113G>A	uc003hxe.1	-	4	1265	c.1124C>T	c.(1123-1125)cCt>cTt	p.P375L		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	375						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)		TTTGATGAAAGGACACCAGCG	0.448000														39			4		0	0	0.00024832	0	0
UTRN	7402	broad.mit.edu	37	6	145161899	145161899	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:145161899C>T	uc003qkt.3	+	71	10293	c.10201C>T	c.(10201-10203)Ccg>Tcg	p.P3401S		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	3401					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)		GCTGGCCCCACCGCACGACAC	0.507000														66			5		0	0	0.000157383	0	0
ST7	7982	broad.mit.edu	37	7	116862957	116862957	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:116862957T>C	uc003vin.3	+	15	1895	c.1681T>C	c.(1681-1683)Tgc>Cgc	p.C561R	ST7_uc011knl.2_Missense_Mutation_p.C538R|ST7_uc003vio.3_Intron|ST7_uc003viq.3_Intron|ST7_uc011knm.2_Intron|ST7_uc003vir.3_Intron	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	561						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGACTGGAATTGCAAGAGTAT	0.448000														104			9		0	0	6.40141e-05	0	0
ROS1	6098	broad.mit.edu	37	6	117686846	117686846	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:117686846C>T	uc003pxp.1	-	18	3070	c.2871G>A	c.(2869-2871)agG>agA	p.R957R	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	957	Fibronectin type-III 4.				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)		TTCCTTCAATCCTAAATGAAG	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									31			4		0	0	0.000602214	0	0
RB1CC1	9821	broad.mit.edu	37	8	53589059	53589059	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:53589059G>A	uc003xre.4	-	5	1000	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	RB1CC1_uc003xrf.4_Nonsense_Mutation_p.Q148*	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	148					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCCCAGCCTTGGTGTTGAAGA	0.353000														72			5		0	0	0.000602214	0	0
ACTB	60	broad.mit.edu	37	7	5567493	5567494	+	Missense_Mutation	DNP	GG	AA	AA	rs1064790		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:5567493_5567494GG>AA	uc003sot.4	-	5	1097_1098	c.1013_1014CC>TT	c.(1012-1014)tcc>tTT	p.S338F	ACTB_uc003sor.4_Missense_Mutation_p.S216F|ACTB_uc003soq.4_Missense_Mutation_p.S216F	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	338					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGATCCACACGGAGTACTTGCG	0.619000														61			5		0	0	6.4e-05	0	0
AMY2B	280	broad.mit.edu	37	1	104116494	104116494	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:104116494G>A	uc010ouo.2	+	15	2382	c.678G>A	c.(676-678)ttG>ttA	p.L226L	AMY2B_uc001duq.3_Silent_p.L226L|AMY2B_uc001dur.3_Silent_p.L226L|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	226					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGGCAATTTTGGACAAACTGC	0.383000														201			8		0	0	0.000157383	0	0
ADH6	130	broad.mit.edu	37	4	100131343	100131343	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:100131343C>T	uc003huo.2	-	4	557	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Missense_Mutation_p.E155K|ADH6_uc010ile.3_Missense_Mutation_p.E155K	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	155					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACTGAGATTTCCTTTATCACT	0.433000														83			7		0	0	8.12818e-05	0	0
APOB	338	broad.mit.edu	37	2	21228104	21228104	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:21228104G>A	uc002red.3	-	25	11764	c.11636C>T	c.(11635-11637)tCc>tTc	p.S3879F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3879					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.S3879S(1)		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)	TGCTTGAAAGGAAGGAATGAC	0.458000														426			17		0	0	0.000566183	0	0
WAC	51322	broad.mit.edu	37	10	28872327	28872328	+	Splice_Site	DNP	GG	TT	TT			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:28872327_28872328GG>TT	uc001iuf.3	+	4	363	c.275_splice	c.e4-1	p.G92_splice	WAC_uc001iud.3_Splice_Site_p.G47_splice|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Splice_Site_p.G47_splice|WAC_uc001iug.3_Splice_Site_p.G92_splice|WAC_uc001iuh.3_Splice_Site_p.G47_splice	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	92					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ATTTTTTTAAGGGACCAGTTAC	0.297000														208			8		0	0	6.4e-05	0	0
CC2D1B	200014	broad.mit.edu	37	1	52825463	52825464	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:52825463_52825464GG>AA	uc001ctq.2	-	7	1006_1007	c.855_856CC>TT	c.(853-858)tcccga>tcTTga	p.R286*	CC2D1B_uc001ctr.3_5'Flank|CC2D1B_uc001cts.3_5'UTR	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	286										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TCTCTCTGTCGGGATGACAGCA	0.599000														9			4		0	0	6.4e-05	0	0
IL1B	3553	broad.mit.edu	37	2	113588929	113588929	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:113588929C>T	uc002tii.1	-	5	624	c.537G>A	c.(535-537)aaG>aaA	p.K179K	IL1B_uc002tih.1_Silent_p.K148K	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	179					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GATTCTTTTCCTTGAGGCCCA	0.468000														118			6		0	0	3.59834e-05	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285727	248285727	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:248285727C>T	uc001idy.1	+	0	290	c.290C>T	c.(289-291)tCc>tTc	p.S97F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		GCCACATTTTCCTTCTCCTAC	0.428000														136			6		0	0	8.12818e-05	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324064	61324064	+	Splice_Site	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr18:61324064C>T	uc002lji.3	-	7	912	c.768_splice	c.e7+1	p.K256_splice	SERPINB3_uc002ljg.3_Splice_Site_p.K256_splice|SERPINB3_uc010dqa.3_Intron	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	256					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CAAGTTCTTACCTTCTGGAGA	0.428000														137			6		0	0	0.000274275	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718516	142718517	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:142718516_142718517GG>AA	uc022cfm.1	-	0	408_409	c.408_409CC>TT	c.(406-411)ctccag>ctTTag	p.Q137*	SLITRK4_uc022cfl.1_Nonsense_Mutation_p.Q137*|SLITRK4_uc004fbx.3_Nonsense_Mutation_p.Q137*|SLITRK4_uc004fby.3_Nonsense_Mutation_p.Q137*	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	137						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTCAGCCTGGAGATACTCCA	0.386000														78			8		0	0	6.4e-05	0	0
SLC34A2	10568	broad.mit.edu	37	4	25671354	25671354	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:25671354C>T	uc003grr.3	+	6	802	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	SLC34A2_uc003grs.3_Missense_Mutation_p.L240F|SLC34A2_uc010iev.3_Missense_Mutation_p.L240F	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	241					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)				CACCCATTACCTCGAGATCAT	0.507000			T	ROS1	NSCLC									170			7		0	0	0.000157383	0	0
CEACAM20	125931	broad.mit.edu	37	19	45026930	45026930	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr19:45026930G>A	uc010ejn.1	-	3	500	c.484C>T	c.(484-486)Cct>Tct	p.P162S	CEACAM20_uc010ejo.1_Missense_Mutation_p.P162S|CEACAM20_uc010ejp.1_Missense_Mutation_p.P162S|CEACAM20_uc010ejq.1_Missense_Mutation_p.P162S	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	162	Ig-like C2-type 2.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ATTTCAACAGGATCAGGACCA	0.463000														166			9		0	0	0.000442599	0	0
CGNL1	84952	broad.mit.edu	37	15	57734666	57734666	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:57734666G>A	uc010bfw.3	+	4	1986	c.1793G>A	c.(1792-1794)gGa>gAa	p.G598E	CGNL1_uc002aeg.3_Missense_Mutation_p.G598E	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	598						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)		AGCGCCCAAGGAAATAACCAA	0.383000														57			5		0	0	3.59834e-05	0	0
SLC25A19	60386	broad.mit.edu	37	17	73269592	73269592	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:73269592G>A	uc002jns.4	-	5	1813	c.903C>T	c.(901-903)ttC>ttT	p.F301F	LOC100287042_uc021ucy.1_3'UTR|SLC25A19_uc010dge.3_Silent_p.F244F|SLC25A19_uc002jnv.4_Silent_p.F301F|SLC25A19_uc002jnu.4_Silent_p.F301F|SLC25A19_uc002jnw.4_Silent_p.F301F|SLC25A19_uc002jnt.4_Silent_p.F301F	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	301						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ATTCATACGAGAAGAACATGA	0.582000														48			5		0	0	8.12818e-05	0	0
DNAH3	55567	broad.mit.edu	37	16	20999068	20999069	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:20999068_20999069CC>TT	uc010vbe.2	-	45	6828_6829	c.6828_6829GG>AA	c.(6826-6831)cgggac>cgAAac	p.D2277N	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2277	AAA 3 (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)		CGTGAGAAGTCCCGCAGGTTAA	0.475000														56			5		0	0	6.4e-05	0	0
OR5L2	26338	broad.mit.edu	37	11	55594880	55594880	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:55594880C>T	uc001nhy.1	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTACTTTTTCCTCAGCCACT	0.463000										HNSCC(27;0.073)				157			9		0	0	6.40141e-05	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082715	73082715	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:73082715G>A	uc001jrr.4	+	1	261	c.204G>A	c.(202-204)tgG>tgA	p.W68*	SLC29A3_uc001jrs.4_Nonsense_Mutation_p.W68*|SLC29A3_uc010qjq.2_5'UTR|SLC29A3_uc001jrt.4_5'UTR	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	68					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						TACTGCCATGGAACTTCTTTA	0.592000														62			5		0	0	0.000602214	0	0
KARS	3735	broad.mit.edu	37	16	75670437	75670437	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:75670437G>A	uc002feq.3	-	3	445	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	KARS_uc002fer.3_Missense_Mutation_p.H161Y|KARS_uc010cgz.3_5'UTR	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	133					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CTTTTGGCATGGATCCTACCT	0.413000														143			7		0	0	0.000157383	0	0
MYH1	4619	broad.mit.edu	37	17	10398388	10398388	+	Missense_Mutation	SNP	C	T	T	rs141339850		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:10398388C>T	uc002gmo.3	-	36	5420	c.5326G>A	c.(5326-5328)Gaa>Aaa	p.E1776K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1776						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1776K(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGTCCTGTTCCTTCTTCAGC	0.507000														146			6		0	0	8.12818e-05	0	0
FRK	2444	broad.mit.edu	37	6	116264247	116264247	+	Silent	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:116264247G>A	uc003pwi.1	-	6	1689	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	414	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S414F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		ACCATACATCGGACTTAATGC	0.393000														55			5		0	0	3.59834e-05	0	0
KALRN	8997	broad.mit.edu	37	3	124044826	124044826	+	Splice_Site	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:124044826G>A	uc003ehg.3	+	7	1214	c.1087_splice	c.e7-1	p.N363_splice	KALRN_uc010hrv.1_Splice_Site_p.N363_splice|KALRN_uc003ehf.1_Splice_Site_p.N363_splice|KALRN_uc011bjy.1_Splice_Site_p.N363_splice	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	363					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTTCTTTCCAGAATGCCTATG	0.517000														88			8		0	0	0.000157383	0	0
RGS12	6002	broad.mit.edu	37	4	3344679	3344679	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:3344679C>T	uc003ggw.3	+	2	2801	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	RGS12_uc003ggu.2_Missense_Mutation_p.R633W|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.R633W|RGS12_uc003ggy.1_Missense_Mutation_p.R31W|RGS12_uc003ggx.1_Missense_Mutation_p.R633W	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	633						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.R633W(2)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAATTTGGGCGGGGAACTGG	0.448000														107			6		0	0	8.12818e-05	0	0
CYLD	1540	broad.mit.edu	37	16	50813885	50813885	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:50813885C>T	uc021tib.1	+	6	1571	c.1448C>T	c.(1447-1449)cCt>cTt	p.P483L	CYLD_uc002ego.3_Missense_Mutation_p.P480L|CYLD_uc010cbs.1_Missense_Mutation_p.P480L|CYLD_uc002egp.1_Missense_Mutation_p.P480L|CYLD_uc002egq.1_Missense_Mutation_p.P480L|CYLD_uc002egr.1_Missense_Mutation_p.P480L|CYLD_uc002egs.1_Missense_Mutation_p.P480L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	483	Interaction with IKBKG/NEMO.|Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GAGAACCCTCCTTTCTATGGG	0.498000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					53			4		0	0	0.00024832	0	0
PDE1B	5153	broad.mit.edu	37	12	54971099	54971099	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:54971099G>A	uc001sgd.2	+	14	1991	c.1598G>A	c.(1597-1599)gGg>gAg	p.G533E	PDE1B_uc010soz.2_Missense_Mutation_p.G396E|PDE1B_uc010spa.1_Missense_Mutation_p.G492E|PDE1B_uc001sge.3_Missense_Mutation_p.G513E|PDE1B_uc001sgf.3_Missense_Mutation_p.G396E|PDE1B_uc009znq.3_Missense_Mutation_p.G329E	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	533					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AACCAGAATGGGAATCTGGAT	0.567000														94			6		0	0	8.12818e-05	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204214775	204214775	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:204214775G>A	uc001hau.3	-	13	2317	c.2000C>T	c.(1999-2001)cCc>cTc	p.P667L	PLEKHA6_uc009xau.1_5'Flank|PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	667										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCCCCGGGAGGGGTTGTTCTT	0.597000														49			4		0	0	0.00024832	0	0
MYT1L	23040	broad.mit.edu	37	2	1926775	1926775	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:1926775C>T	uc002qxe.3	-	9	1593	c.766G>A	c.(766-768)Gat>Aat	p.D256N	MYT1L_uc002qxd.3_Missense_Mutation_p.D256N|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	256					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTAACAACATCACTGTCTAAG	0.413000														128			7		0	0	8.12818e-05	0	0
OR5K1	26339	broad.mit.edu	37	3	98188672	98188672	+	Silent	SNP	C	T	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:98188672C>T	uc003dsm.3	+	0	252	c.252C>T	c.(250-252)aaC>aaT	p.N84N		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTTAGAGAACTTCTTTTCTG	0.433000														180			11		0	0	0.000673444	0	0
AHNAK	79026	broad.mit.edu	37	11	62297784	62297784	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:62297784G>A	uc001ntl.3	-	4	4405	c.4105C>T	c.(4105-4107)Cca>Tca	p.P1369S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1369					nervous system development	nucleus	protein binding			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)				TCCACATCTGGAGCACTAATG	0.488000														227			9		0	0	0.000442599	0	0
PLCH2	9651	broad.mit.edu	37	1	2430086	2430087	+	Splice_Site	INS	-	GTGGGGGCC	GTGGGGGCC	rs142848828	by1000genomes	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:2430086_2430087insGTGGGGGCC	uc001aji.1	+	17	2620	c.2346_splice	c.e17+1	p.E782_splice	PLCH2_uc010nyz.2_Splice_Site_p.E571_splice|PLCH2_uc009vle.1_Splice_Site_p.E535_splice|PLCH2_uc001ajj.1_Splice_Site_p.E571_splice|PLCH2_uc001ajk.1_Splice_Site_p.E571_splice|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	783	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E783_I784insVGA(1)|p.E630_I631insVGA(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCGTGGGGAGGTGGGGGCCAG	0.703													---	4	---	---	2	---					
MGA	23269	broad.mit.edu	37	15	42003322	42003322	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:42003322delC	uc010ucy.2	+	7	3040	c.2859delC	c.(2857-2859)aacfs	p.N953fs	MGA_uc001zog.1_Frame_Shift_Del_p.N953fs|MGA_uc010ucz.2_Frame_Shift_Del_p.N953fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	953						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGCGAATAACTTTGTTGTGC	0.438													---	164	---	---	7	---					
UBR1	197131	broad.mit.edu	37	15	43328430	43328430	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:43328430delA	uc001zqq.3	-	18	2202	c.2136delT	c.(2134-2136)cttfs	p.L712fs	UBR1_uc010udk.1_Frame_Shift_Del_p.L712fs	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	712					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CATACCTCTGAAGTACCAGTA	0.328													---	390	---	---	12	---					
