Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LRRIQ3	127255	broad.mit.edu	37	1	74492592	74492592	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:74492592C>T	ENST00000354431.4	-	8	1971	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E594K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	594										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAGGCTTTTTCAAAGGCAATC	0.289000													5	24					0	0	0.00116845	0	0
LMO2	4005	broad.mit.edu	37	11	33881008	33881008	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:33881008G>A	ENST00000257818.2	-	6	1407	c.578C>T	c.(577-579)gCc>gTc	p.A193V	LMO2_ENST00000395833.3_Missense_Mutation_p.A124V	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	124					multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CTTCTGACAGGCGGCGCATTT	0.488000			T	TRD@	T-ALL								12	25					0	0	0.00185496	0	0
DNAH1	25981	broad.mit.edu	37	3	52416372	52416372	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:52416372G>A	ENST00000420323.2	+	50	8103	c.7842G>A	c.(7840-7842)aaG>aaA	p.K2614K		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2614	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACTATCCAAGAACTACGGCA	0.567000													23	45					0	0	0.00047179	0	0
DHX16	8449	broad.mit.edu	37	6	30630409	30630409	+	Silent	SNP	A	A	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:30630409A>G	ENST00000376442.3	-	9	1734	c.1539T>C	c.(1537-1539)agT>agC	p.S513S		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	513	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GATACCTGTAACTCGCCAGGT	0.517000													11	16					0	0	0.000219431	0	0
MUC17	140453	broad.mit.edu	37	7	100685895	100685895	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:100685895C>T	ENST00000306151.4	+	3	11262	c.11198C>T	c.(11197-11199)tCa>tTa	p.S3733L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3733	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3733*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCATTTCATCTTCTGCA	0.507000													42	84					0	0	0.000680045	0	0
OCLN	100506658	broad.mit.edu	37	5	68849485	68849485	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:68849485G>A	ENST00000355237.2	+	9	1992	c.1556G>A	c.(1555-1557)aGa>aAa	p.R519K	OCLN_ENST00000542132.1_Missense_Mutation_p.R197K|OCLN_ENST00000396442.2_Missense_Mutation_p.R519K|OCLN_ENST00000538151.1_Missense_Mutation_p.R268K|OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000380766.2_Missense_Mutation_p.R465K	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	519					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GACTATGATAGACAGAAAACA	0.383000													21	60					0	0	0.00047179	0	0
TLR4	7099	broad.mit.edu	37	9	120475214	120475214	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:120475214G>A	ENST00000355622.6	+	3	909	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E230K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	270					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGGAAACTTGGAAAAGTTTGA	0.358000													34	60					0	0	0.000814825	0	0
DDX17	10521	broad.mit.edu	37	22	38884057	38884057	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr22:38884057T>C	ENST00000396821.3	-	12	1610	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.H427R	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	425					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GCCAATACGGTGCACATAATC	0.478000													19	50					0	0	0.00121646	0	0
OR4K1	79544	broad.mit.edu	37	14	20404233	20404233	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:20404233G>A	ENST00000285600.4	+	1	467	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTACAATTATGAACCGGAGGC	0.443000													15	35					0	0	0.000308642	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066500	46066500	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr21:46066500C>T	ENST00000334670.8	+	1	170	c.125C>T	c.(124-126)tCc>tTc	p.S42F	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	42	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCGGCCCCCTCCCTGAGCCTG	0.706000													10	25					0	0	0.000978159	0	0
FAM71B	153745	broad.mit.edu	37	5	156589736	156589736	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:156589736C>T	ENST00000302938.4	-	2	1635	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	514						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)			TTCCCCAGTTCCTGAGTTGTT	0.498000													125	229					0	0	0.000781405	0	0
BSN	8927	broad.mit.edu	37	3	49698188	49698188	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:49698188G>A	ENST00000296452.4	+	6	9024	c.8910G>A	c.(8908-8910)aaG>aaA	p.K2970K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2970					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGAGGAGAAGGAGATTGACG	0.602000													4	9					0	0	0.00024832	0	0
FCRL3	115352	broad.mit.edu	37	1	157659629	157659629	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:157659629G>A	ENST00000368184.3	-	10	2060	c.1769C>T	c.(1768-1770)gCt>gTt	p.A590V	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.A590V	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	590						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAGAGCAGCAGCAGCAGCAAG	0.542000													4	23					0	0	0.00024832	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			31	74					5.60225e-13	3.47726e-12	0.00178596	1	0
ANKS1A	23294	broad.mit.edu	37	6	34962099	34962099	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:34962099G>A	ENST00000360359.3	+	10	1461	c.1323G>A	c.(1321-1323)agG>agA	p.R441R	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	441						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGAGACCTAGGATTCATGGGA	0.448000													14	33					0	0	0.00185496	0	0
LEF1	51176	broad.mit.edu	37	4	109088923	109088923	+	Translation_Start_Site	SNP	T	T	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:109088923T>C	ENST00000379951.2	-	1	1189	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Start_Codon_SNP_p.M1V|LEF1_ENST00000265165.1_Start_Codon_SNP_p.M1V	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	1	CTNNB1-binding (By similarity).				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGTTGGGGCATCCCGGCGGCT	0.652000													7	41					0	0	8.12818e-05	0	0
TLR9	54106	broad.mit.edu	37	3	52255379	52255379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:52255379G>A	ENST00000597542.1	-	9	3982	c.3025C>T	c.(3025-3027)Cag>Tag	p.Q1009*	TLR9_ENST00000494383.1_Missense_Mutation_p.P1138L|TLR9_ENST00000360658.2_Nonsense_Mutation_p.Q985*			Q9NR96	TLR9_HUMAN	toll-like receptor 9	985	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CAGAGGCGCTGGCGCAGCCGC	0.711000													7	20					0	0	8.12818e-05	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159526	18159526	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:18159526C>T	ENST00000396275.2	+	3	1138	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	259						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTCCATTTTCCTGTCCGCTC	0.493000													15	42					0	0	0.000219431	0	0
OR14A16	284532	broad.mit.edu	37	1	247978766	247978766	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:247978766G>A	ENST00000357627.1	-	1	265	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAATGAAATGGAGTTGTTGTG	0.443000													9	18					0	0	0.000274275	0	0
ZNF816	125893	broad.mit.edu	37	19	53454132	53454132	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:53454132G>A	ENST00000357666.4	-	5	1196	c.896C>T	c.(895-897)tCc>tTc	p.S299F	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.S299F	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GCATACAAGGGATGACATCTG	0.408000													24	53					0	0	0.000375601	0	0
AKAP6	9472	broad.mit.edu	37	14	33293521	33293521	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:33293521G>A	ENST00000280979.4	+	13	6672	c.6502G>A	c.(6502-6504)Gag>Aag	p.E2168K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2168					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGATGGAGAGGAGCCTTGTTT	0.478000													10	17					0	0	0.000673444	0	0
SCN3B	55800	broad.mit.edu	37	11	123509025	123509025	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:123509025C>T	ENST00000392770.2	-	4	1255	c.453G>A	c.(451-453)gaG>gaA	p.E151E	SCN3B_ENST00000299333.3_Silent_p.E151E|SCN3B_ENST00000530277.1_Silent_p.E151E	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	151	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AGGTGAAGTCCTCTCCAGCTG	0.418000													11	21					0	0	0.000978159	0	0
PTPN9	5780	broad.mit.edu	37	15	75798234	75798234	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:75798234G>A	ENST00000306726.2	-	7	1262	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	250						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGGGTAGGAACTGGAAAT	0.537000													12	21					0	0	0.00185496	0	0
NFATC4	4776	broad.mit.edu	37	14	24839398	24839398	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:24839398C>T	ENST00000413692.2	+	3	1127	c.983C>T	c.(982-984)cCa>cTa	p.P328L	NFATC4_ENST00000555590.1_Missense_Mutation_p.P278L|NFATC4_ENST00000553708.1_Missense_Mutation_p.P265L|NFATC4_ENST00000422617.3_Missense_Mutation_p.P253L|NFATC4_ENST00000554591.1_Missense_Mutation_p.P328L|NFATC4_ENST00000554661.1_Missense_Mutation_p.P195L|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555453.1_Missense_Mutation_p.P253L|NFATC4_ENST00000554050.1_Missense_Mutation_p.P265L|NFATC4_ENST00000553469.1_Missense_Mutation_p.P297L|NFATC4_ENST00000539237.2_Missense_Mutation_p.P297L|NFATC4_ENST00000250373.4_Missense_Mutation_p.P265L|NFATC4_ENST00000557451.1_Missense_Mutation_p.P195L|NFATC4_ENST00000554344.1_Missense_Mutation_p.P195L|NFATC4_ENST00000424781.2_Missense_Mutation_p.P278L|NFATC4_ENST00000556279.1_Missense_Mutation_p.P297L|NFATC4_ENST00000554966.1_Missense_Mutation_p.P278L|NFATC4_ENST00000553879.1_Missense_Mutation_p.P195L|NFATC4_ENST00000556169.1_Missense_Mutation_p.P253L	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	265					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCTGCCTCTCCATGTGGCAAG	0.682000													4	10					0	0	0.000602214	0	0
WDR59	79726	broad.mit.edu	37	16	74976658	74976658	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:74976658T>A	ENST00000262144.6	-	7	642	c.512A>T	c.(511-513)gAt>gTt	p.D171V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	171										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TATCCGCACATCGCCGTCATG	0.483000													6	24					0	0	8.12818e-05	0	0
PRDM9	56979	broad.mit.edu	37	5	23527766	23527766	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:23527766G>A	ENST00000296682.3	+	11	2751	c.2569G>A	c.(2569-2571)Gag>Aag	p.E857K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	857					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACAGGGGAGAAGCCCTA	0.592000										HNSCC(3;0.000094)			17	54					0	0	0.000566183	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681488	44681488	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr22:44681488C>T	ENST00000381176.4	-	4	551	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	140						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TTTCATCCATCGTCCTTGGAT	0.637000													22	52					0	0	0.00188189	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854502	18854502	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:18854502C>T	ENST00000538330.1	-	5	677	c.296G>A	c.(295-297)gGa>gAa	p.G99E	PLCZ1_ENST00000266505.7_Splice_Site_p.G317_splice|PLCZ1_ENST00000447925.2_Splice_Site_p.G315_splice|PLCZ1_ENST00000539875.1_Splice_Site_p.G124_splice|PLCZ1_ENST00000435379.1_Splice_Site_p.G122_splice|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Splice_Site_p.G180_splice			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	317					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTGATTGTCTCCTAAAACAGA	0.433000													15	31					0	0	0.000422831	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123645789	123645789	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:123645789G>A	ENST00000606320.1	-	22	3481	c.3275C>T	c.(3274-3276)cCg>cTg	p.P1092L	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.P1062L|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.P940L|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.P940L			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	940					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GACTGAAACCGGCTTACACTG	0.418000													12	44					0	0	0.000978159	0	0
CD163L1	283316	broad.mit.edu	37	12	7585969	7585969	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:7585969C>T	ENST00000416109.2	-	3	464	c.446G>A	c.(445-447)gGt>gAt	p.G149D	CD163L1_ENST00000396630.1_Splice_Site|CD163L1_ENST00000313599.3_Splice_Site	NM_174941.4	NP_777601.2	Q9NR16	C163B_HUMAN	CD163 molecule-like 1	149						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TAGACTCTTACCATAACAGTT	0.443000													10	25					0	0	0.000978159	0	0
KLHL1	57626	broad.mit.edu	37	13	70314608	70314608	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr13:70314608C>T	ENST00000377844.4	-	8	2479	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D381N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	574					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCTGTGGATCCCACCTTTCC	0.413000													14	15					0	0	0.000308642	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593372	1593372	+	RNA	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:1593372G>A	ENST00000436493.2	-	0	253																											GGCACAATCTGATCCTGGCCA	0.582000													6	41					0	0	0.000157383	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054388	102054388	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:102054388G>A	ENST00000318222.3	-	9	1945	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L	PKD2L1_ENST00000338519.3_Silent_p.L446L|PKD2L1_ENST00000353274.3_Silent_p.L521L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	521					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CAAAGTCCCCGAGGATTATCC	0.517000													24	45					0	0	0.000720815	0	0
SFSWAP	6433	broad.mit.edu	37	12	132237736	132237736	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:132237736C>T	ENST00000261674.4	+	8	1291	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P384S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	384	Poly-Pro.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGCGCCGCCCCCTCCCGGAAT	0.617000													13	71					0	0	0.00136819	0	0
CHL1	10752	broad.mit.edu	37	3	369855	369855	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:369855C>T	ENST00000256509.2	+	5	845	c.203C>T	c.(202-204)tCg>tTg	p.S68L	CHL1_ENST00000397491.2_Missense_Mutation_p.S68L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	68	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.S68L(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTAGATTTTCGTGGACTAAG	0.338000													22	28					0	0	0.000375601	0	0
KCNK1	3775	broad.mit.edu	37	1	233807084	233807084	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:233807084G>A	ENST00000366621.3	+	3	987	c.819G>A	c.(817-819)ctG>ctA	p.L273L	KCNK1_ENST00000366620.1_Silent_p.L157L|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	273						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCCATGAGCTGAAAAAATTCA	0.448000													16	20					0	0	0.000566183	0	0
ANPEP	290	broad.mit.edu	37	15	90340813	90340813	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:90340813G>A	ENST00000300060.6	-	15	2463	c.2150C>T	c.(2149-2151)cCc>cTc	p.P717L	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	717	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TACCTTCATGGGGCCATAGAC	0.527000													26	58					0	0	0.000878237	0	0
TFPI2	7980	broad.mit.edu	37	7	93516148	93516148	+	Missense_Mutation	SNP	C	C	T	rs12669450		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:93516148C>T	ENST00000222543.5	-	5	1004	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Missense_Mutation_p.R120Q	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	231			R -> Q (in dbSNP:rs12669450).		blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTGCTTCTTCCGAATTTTCCG	0.328000													25	70					0	0	0.00106085	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324085	61324085	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:61324085C>T	ENST00000283752.5	-	7	891	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	250					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						CCATCGATTTCATTTGGCAGC	0.413000													23	68					0	0	0.000586117	0	0
SYTL4	94121	broad.mit.edu	37	X	99956964	99956964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:99956964G>A	ENST00000372981.1	-	2	256	c.70C>T	c.(70-72)Cga>Tga	p.R24*	SYTL4_ENST00000454200.2_Nonsense_Mutation_p.R24*|SYTL4_ENST00000372989.1_Nonsense_Mutation_p.R24*|SYTL4_ENST00000455616.1_Nonsense_Mutation_p.R24*|SYTL4_ENST00000263033.5_Nonsense_Mutation_p.R24*|SYTL4_ENST00000276141.6_Nonsense_Mutation_p.R24*			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	24	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCATCTCGCTGTAGAACA	0.438000													5	7					0	0	0.000157383	0	0
IRGC	56269	broad.mit.edu	37	19	44222942	44222942	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:44222942G>A	ENST00000244314.5	+	2	431	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	78						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCGTGGCCTGGAGGCCGAGGA	0.682000													15	30					0	0	0.000566183	0	0
LDHA	3939	broad.mit.edu	37	11	18428703	18428703	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:18428703C>T	ENST00000422447.3	+	8	1147	c.874C>T	c.(874-876)Cct>Tct	p.P292S	LDHA_ENST00000227157.4_3'UTR|LDHA_ENST00000430553.2_Missense_Mutation_p.P234S|LDHA_ENST00000379412.5_Missense_Mutation_p.P292S|LDHA_ENST00000396222.2_Intron|LDHA_ENST00000540430.1_Missense_Mutation_p.P321S|LDHA_ENST00000542179.1_Missense_Mutation_p.P292S	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	292					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	CCTTAGTGTTCCTTGCATTTT	0.418000													6	34					0	0	8.12818e-05	0	0
PFKFB1	5207	broad.mit.edu	37	X	54985314	54985314	+	Silent	SNP	G	G	A	rs144960587		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:54985314G>A	ENST00000375006.3	-	5	499	c.429C>T	c.(427-429)atC>atT	p.I143I	PFKFB1_ENST00000545676.1_Silent_p.I78I|PFKFB1_ENST00000374992.2_Silent_p.I121I	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	143	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CAAACTGCAGGATCAGTGACC	0.448000													32	31					0	0	0.00111076	0	0
MFRP	83552	broad.mit.edu	37	11	119215092	119215092	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:119215092C>T	ENST00000555262.1	-	8	1067	c.908G>A	c.(907-909)gGg>gAg	p.G303E	MFRP_ENST00000530681.1_Missense_Mutation_p.G303E|MFRP_ENST00000449574.2_Missense_Mutation_p.G303E|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Intron	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGTCAGATTCCCCCCACACCC	0.572000													4	12					0	0	0.000602214	0	0
PTCHD2	57540	broad.mit.edu	37	1	11595677	11595677	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:11595677G>A	ENST00000304391.6	+	4	569	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	PTCHD2_ENST00000389575.3_Silent_p.E1264E|PTCHD2_ENST00000294484.6_Silent_p.E1264E			Q9P2K9	PTHD2_HUMAN	patched domain containing 2	33					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.E1481E(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGCTGGAGAGAACCTGCCCC	0.657000													8	30					0	0	0.000442599	0	0
SCN2A	6326	broad.mit.edu	37	2	166221713	166221713	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:166221713G>A	ENST00000375437.2	+	18	3750	c.3460G>A	c.(3460-3462)Gga>Aga	p.G1154R	SCN2A_ENST00000357398.3_Missense_Mutation_p.G1154R|SCN2A_ENST00000283256.6_Missense_Mutation_p.G1154R|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1154R	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1154					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCCCGCCGAGGGAGAACAGCC	0.413000													16	38					0	0	0.00074312	0	0
ZNF479	90827	broad.mit.edu	37	7	57187738	57187738	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:57187738C>T	ENST00000331162.4	-	5	1654	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TAGGGTCTCTCTCCAGTATGA	0.423000													10	51					0	0	0.000978159	0	0
TFDP2	7029	broad.mit.edu	37	3	141724290	141724290	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:141724290G>A	ENST00000489671.1	-	4	609	c.179C>T	c.(178-180)cCc>cTc	p.P60L	TFDP2_ENST00000495310.1_Missense_Mutation_p.P4S|TFDP2_ENST00000467072.1_5'UTR|TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000486111.1_5'UTR|TFDP2_ENST00000479040.1_5'UTR|TFDP2_ENST00000477292.1_Intron|TFDP2_ENST00000317104.7_5'UTR|TFDP2_ENST00000310282.6_5'UTR|TFDP2_ENST00000499676.2_5'UTR			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	60					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						TACCATTTGGGGTCCAACATT	0.303000													4	10					0	0	0.00024832	0	0
UGT2A1	10941	broad.mit.edu	37	4	70462093	70462093	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:70462093C>T	ENST00000503640.1	-	3	926	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	UGT2A1_ENST00000502343.1_Intron|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A2_ENST00000457664.2_Missense_Mutation_p.E300K	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	291					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATAAATTCTTCCATTTCCTGC	0.313000													4	20					0	0	0.000602214	0	0
ITGAX	3687	broad.mit.edu	37	16	31374270	31374270	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:31374270C>T	ENST00000268296.4	+	13	1495	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	ITGAX_ENST00000562522.1_Silent_p.F458F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	458					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCTCCTACTTCGGGGCCTCCC	0.677000													18	52					0	0	0.00121646	0	0
ZNF208	7757	broad.mit.edu	37	19	22157069	22157069	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:22157069G>A	ENST00000397126.4	-	4	915	c.767C>T	c.(766-768)tCc>tTc	p.S256F	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGTAGGATTTCTCTCC	0.358000													7	16					0	0	8.12818e-05	0	0
ZNF347	84671	broad.mit.edu	37	19	53645692	53645692	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:53645692G>A	ENST00000452676.2	-	5	818	c.392C>T	c.(391-393)tCc>tTc	p.S131F	ZNF347_ENST00000334197.7_Missense_Mutation_p.S130F|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.S131F	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTCCCTGAAGGAACATCCTTC	0.403000													14	36					0	0	0.00185496	0	0
GAPVD1	26130	broad.mit.edu	37	9	128099780	128099780	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:128099780C>T	ENST00000470056.1	+	15	2947	c.2787C>T	c.(2785-2787)ctC>ctT	p.L929L	GAPVD1_ENST00000265956.4_Silent_p.L903L|GAPVD1_ENST00000495955.1_Silent_p.L929L|GAPVD1_ENST00000394104.2_Silent_p.L929L|GAPVD1_ENST00000394105.2_Silent_p.L956L|GAPVD1_ENST00000312123.9_Silent_p.L908L|GAPVD1_ENST00000297933.6_Silent_p.L929L|GAPVD1_ENST00000394083.2_Silent_p.L908L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	929					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCGAGAACTCCCTCCAGCTG	0.532000													16	29					0	0	0.000308642	0	0
IP6K3	117283	broad.mit.edu	37	6	33690842	33690842	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:33690842C>T	ENST00000451316.1	-	7	1423	c.888G>A	c.(886-888)agG>agA	p.R296R	IP6K3_ENST00000293756.4_Silent_p.R296R	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	296					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CCAGGAGCTCCCTCCGGAGGT	0.522000													8	30					0	0	0.000274275	0	0
CSMD3	114788	broad.mit.edu	37	8	114111080	114111080	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:114111080C>T	ENST00000297405.5	-	5	1066	c.822G>A	c.(820-822)gaG>gaA	p.E274E	CSMD3_ENST00000343508.3_Silent_p.E234E|CSMD3_ENST00000455883.2_Silent_p.E274E|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.E274E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	274	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTCCCCAGGCTCTGCTACAA	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	23					0	0	0.000157383	0	0
GLRA2	2742	broad.mit.edu	37	X	14625275	14625275	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:14625275G>A	ENST00000218075.4	+	6	1130	c.600G>A	c.(598-600)ctG>ctA	p.L200L	GLRA2_ENST00000443437.2_Silent_p.L111L|GLRA2_ENST00000355020.4_Silent_p.L200L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	200					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGAATGACCTGATATTTGAGT	0.393000													20	20					0	0	0.00152264	0	0
SARS	6301	broad.mit.edu	37	1	109779138	109779138	+	Silent	SNP	C	C	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:109779138C>A	ENST00000369923.4	+	9	1236	c.1225C>A	c.(1225-1227)Cga>Aga	p.R409R	SARS_ENST00000234677.2_Silent_p.R409R|SARS_ENST00000468588.1_3'UTR			P49591	SYSC_HUMAN	seryl-tRNA synthetase	409					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GCTTCGAATCCGATATGGGCA	0.557000													7	228					0.000274275	0.00168785	0.000274275	1	0
KCNT2	343450	broad.mit.edu	37	1	196197368	196197368	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:196197368C>T	ENST00000367433.5	-	27	3423	c.3322G>A	c.(3322-3324)Gaa>Aaa	p.E1108K	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E1066K|KCNT2_ENST00000294725.8_Missense_Mutation_p.E1132K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1132						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTTGAGTTTCCTCCCGAGAA	0.403000													13	23					0	0	0.00185496	0	0
SLC7A13	157724	broad.mit.edu	37	8	87226673	87226673	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:87226673T>A	ENST00000297524.3	-	4	1485	c.1382A>T	c.(1381-1383)aAt>aTt	p.N461I	SLC7A13_ENST00000419776.2_3'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	461						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GAGGCAAATATTAAATAGTAA	0.313000													9	14					0	0	0.000673444	0	0
ANK3	288	broad.mit.edu	37	10	61831464	61831464	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:61831464C>T	ENST00000280772.1	-	37	9366	c.9175G>A	c.(9175-9177)Gaa>Aaa	p.E3059K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3059					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						GAGGGAGATTCCTTTCCTGGG	0.463000													23	54					0	0	0.00188189	0	0
IL9R	3581	broad.mit.edu	37	X	155227415	155227415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:155227415C>T	ENST00000369423.2	+	1	45	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	IL9R_ENST00000540897.1_5'UTR|IL9R_ENST00000244174.5_5'UTR|IL9R_ENST00000424344.3_5'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGGGATGCCTCAGACTTGTGA	0.527000													17	51					0	0	0.00121646	0	0
REXO4	57109	broad.mit.edu	37	9	136277596	136277596	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:136277596C>A	ENST00000371942.3	-	4	932	c.733G>T	c.(733-735)Gcc>Tcc	p.A245S	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	245	Exonuclease.					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CAGTCCAAGGCTAAGGCTCTT	0.562000													21	66					1.64113e-05	0.000101281	0.00152264	1	0
PCSK1	5122	broad.mit.edu	37	5	95734621	95734621	+	Missense_Mutation	SNP	C	C	T	rs149124467		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:95734621C>T	ENST00000311106.3	-	11	1787	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q	PCSK1_ENST00000508626.1_Missense_Mutation_p.R470Q|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	517					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R517Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCTCCTCTTCGGGAATATTC	0.343000													6	40					0	0	8.12818e-05	0	0
LOXL2	4017	broad.mit.edu	37	8	23185951	23185951	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:23185951C>T	ENST00000389131.3	-	6	1463	c.1094G>A	c.(1093-1095)aGa>aAa	p.R365K		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	365	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCCAGCTCTCTGCAGACCAC	0.627000													15	21					0	0	0.000308642	0	0
NLRP5	126206	broad.mit.edu	37	19	56538530	56538530	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:56538530G>A	ENST00000390649.3	+	7	931	c.931G>A	c.(931-933)Gga>Aga	p.G311R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	311	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACTCTACCAGGGAATGTTCTC	0.572000													3	6					0	0	6.4e-05	0	0
NYAP1	222950	broad.mit.edu	37	7	100086079	100086079	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:100086079C>T	ENST00000423930.1	+	4	894	c.735C>T	c.(733-735)acC>acT	p.T245T	NYAP1_ENST00000454988.1_Silent_p.T188T|NYAP1_ENST00000300179.2_Silent_p.T245T			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	245																	GGGGCCCGACCCCTCCAGCGG	0.642000													9	31					0	0	0.000442599	0	0
IP6K3	117283	broad.mit.edu	37	6	33690841	33690841	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:33690841C>T	ENST00000451316.1	-	7	1424	c.889G>A	c.(889-891)Gag>Aag	p.E297K	IP6K3_ENST00000293756.4_Missense_Mutation_p.E297K	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	297					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCCAGGAGCTCCCTCCGGAGG	0.522000													8	29					0	0	0.000274275	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270291	1270291	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:1270291C>T	ENST00000348261.5	+	35	6607	c.6359C>T	c.(6358-6360)cCc>cTc	p.P2120L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.P2114L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P2114L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2120					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCCCATGGCCCCGAAGCCTCT	0.731000													4	12					0	0	0.000602214	0	0
XIRP2	129446	broad.mit.edu	37	2	168110563	168110563	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:168110563G>A	ENST00000409195.1	+	10	10666	c.10577G>A	c.(10576-10578)gGa>gAa	p.G3526E	XIRP2_ENST00000409756.2_Missense_Mutation_p.E400K|XIRP2_ENST00000295237.9_Missense_Mutation_p.G3526E|XIRP2_ENST00000409043.1_Missense_Mutation_p.E400K|XIRP2_ENST00000409273.1_Missense_Mutation_p.G3304E|XIRP2_ENST00000420519.1_Missense_Mutation_p.E433K|XIRP2_ENST00000409728.1_Missense_Mutation_p.E433K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E178K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3351					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAAGACAAGGAAATATGTAT	0.348000													6	38					0	0	0.000274275	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48599379	48599379	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:48599379C>T	ENST00000323776.5	+	10	1485	c.1323C>T	c.(1321-1323)ggC>ggT	p.G441G	MYCBPAP_ENST00000436259.2_Silent_p.G404G	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	404					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CTATTCTCGGCCCTTCTCTGC	0.517000													11	58					0	0	0.00136819	0	0
KCNH1	3756	broad.mit.edu	37	1	210857348	210857348	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:210857348C>T	ENST00000367007.4	-	11	2333	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	KCNH1_ENST00000271751.4_Missense_Mutation_p.E749K	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	749	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGCCTGGCCTCTTTCTGCTGT	0.597000													9	25					0	0	0.000442599	0	0
SYCE1	93426	broad.mit.edu	37	10	135369309	135369309	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:135369309G>A	ENST00000368517.3	-	10	724	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	SYCE1_ENST00000432597.2_Missense_Mutation_p.R196C|SYCE1_ENST00000343131.5_Missense_Mutation_p.R232C|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	232					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCCTGGCTGCGGAGAAAGAGT	0.637000													7	17					0	0	8.12818e-05	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373303	86373303	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:86373303G>A	ENST00000604798.1	-	8	2405	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	MGAT4C_ENST00000552808.2_Missense_Mutation_p.R401W|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R401W|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R401W|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R430W|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R401W			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	401					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCATTTTGCCGATCTTCTGTT	0.348000													6	26					0	0	0.000157383	0	0
HAO2	51179	broad.mit.edu	37	1	119925537	119925537	+	Splice_Site	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:119925537G>A	ENST00000361035.4	+	4	453		c.e4-1		HAO2_ENST00000325945.3_Splice_Site	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)						fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GTCCGGCACAGAATTCGCCTC	0.542000													7	16					0	0	0.000978159	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718670	140718670	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:140718670C>T	ENST00000394576.2	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCTCCTTCGTAGGCAACA	0.602000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	15					0	0	0.000673444	0	0
TDG	6996	broad.mit.edu	37	12	104378645	104378645	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:104378645G>A	ENST00000392872.3	+	8	1145	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	TDG_ENST00000266775.9_Missense_Mutation_p.R300Q|TDG_ENST00000542036.1_Missense_Mutation_p.R100Q|TDG_ENST00000544861.1_Missense_Mutation_p.R161Q	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	304					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GGCATTGAACGAAATATGGAC	0.388000								Base excision repair (BER), DNA glycosylases					5	54					0	0	0.00116845	0	0
ELMO2	63916	broad.mit.edu	37	20	45015985	45015985	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:45015985T>C	ENST00000372176.1	-	8	721	c.253A>G	c.(253-255)Att>Gtt	p.I85V	ELMO2_ENST00000439931.2_Missense_Mutation_p.I173V|ELMO2_ENST00000488853.1_Intron|ELMO2_ENST00000352077.2_Missense_Mutation_p.I171V|ELMO2_ENST00000290246.6_Missense_Mutation_p.I173V|ELMO2_ENST00000396391.1_Missense_Mutation_p.I173V|ELMO2_ENST00000445496.2_Intron			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	173					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ACCTGCTTAATAAAGGTGATT	0.507000													5	13					0	0	8.12818e-05	0	0
SERPINB6	5269	broad.mit.edu	37	6	2953382	2953382	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:2953382G>A	ENST00000380520.1	-	4	2463	c.469C>T	c.(469-471)Cca>Tca	p.P157S	SERPINB6_ENST00000380546.3_Missense_Mutation_p.P157S|SERPINB6_ENST00000380539.1_Missense_Mutation_p.P157S|SERPINB6_ENST00000335686.5_Missense_Mutation_p.P157S|SERPINB6_ENST00000380524.1_Missense_Mutation_p.P157S|SERPINB6_ENST00000380529.1_Missense_Mutation_p.P157S			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	157					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CTTGTCAATGGATCCACTGAG	0.507000											OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	161					0	0	0.000781405	0	0
BAI3	577	broad.mit.edu	37	6	70092803	70092803	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:70092803G>A	ENST00000370598.1	+	31	5177	c.4356G>A	c.(4354-4356)cgG>cgA	p.R1452R	BAI3_ENST00000238918.8_Silent_p.R658R|BAI3_ENST00000546190.1_Silent_p.R416R	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1452					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAGATTTCGGGATATACCAA	0.378000													6	14					0	0	8.12818e-05	0	0
CWC25	54883	broad.mit.edu	37	17	36958426	36958426	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:36958426G>A	ENST00000225428.4	-	10	1494	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	CWC25_ENST00000536127.1_Silent_p.S336S	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	399										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GATCCTCCAGGGAGGAAGTAG	0.438000													9	23					0	0	0.000274275	0	0
KRT31	3881	broad.mit.edu	37	17	39551129	39551129	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:39551129G>A	ENST00000251645.2	-	6	1120	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	356	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCAGGCTCCGGTATGTGTTGA	0.562000													25	65					0	0	0.000720815	0	0
JRKL	8690	broad.mit.edu	37	11	96124980	96124980	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:96124980C>T	ENST00000458427.1	+	1	1823	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	JRKL_ENST00000332349.4_Silent_p.L389L|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	389					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		AGAAGATTCTCCCTATGGTAG	0.413000													21	47					0	0	0.000375601	0	0
ADAM7	8756	broad.mit.edu	37	8	24333986	24333986	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:24333986G>A	ENST00000175238.6	+	8	757	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_5'UTR|ADAM7_ENST00000380789.1_Missense_Mutation_p.R225Q	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R225Q(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTAAGGAACCGAATTTGGGGA	0.333000													16	24					0	0	0.00121646	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823142	12823142	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:12823142G>A	ENST00000379672.5	+	6	758	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.R153Q|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.R153Q	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	153	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GATTCCTCACGAACCAGGTAG	0.393000													4	6					0	0	0.00024832	0	0
GART	2618	broad.mit.edu	37	21	34901165	34901165	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr21:34901165G>A	ENST00000381831.3	-	8	1065	c.802C>T	c.(802-804)Cca>Tca	p.P268S	GART_ENST00000381815.4_Missense_Mutation_p.P268S|GART_ENST00000381839.3_Missense_Mutation_p.P268S|GART_ENST00000361093.5_Missense_Mutation_p.P268S	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	268	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCTGTATATGGAGTACCCTCT	0.368000													6	27					0	0	8.12818e-05	0	0
RAD23B	5887	broad.mit.edu	37	9	110086177	110086177	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:110086177C>T	ENST00000358015.3	+	8	1175	c.824C>T	c.(823-825)cCc>cTc	p.P275L	RAD23B_ENST00000416373.2_Missense_Mutation_p.P203L	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	275	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TTAGGACATCCCCTTGAATTT	0.353000								Direct reversal of damage;Nucleotide excision repair (NER)					15	29					0	0	0.000422831	0	0
LRBA	987	broad.mit.edu	37	4	151242429	151242429	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:151242429T>C	ENST00000535741.1	-	50	8017	c.7544A>G	c.(7543-7545)aAc>aGc	p.N2515S	LRBA_ENST00000357115.3_Missense_Mutation_p.N2526S|LRBA_ENST00000507224.1_Missense_Mutation_p.N2515S|LRBA_ENST00000510413.1_Missense_Mutation_p.N2515S|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2526						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGCTGGGTGTTGGCTGCCAC	0.498000													14	50					0	0	0.000308642	0	0
ZAP70	7535	broad.mit.edu	37	2	98351794	98351794	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:98351794G>T	ENST00000264972.5	+	10	1379	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	ZAP70_ENST00000442208.1_Missense_Mutation_p.Q262H|ZAP70_ENST00000451498.2_Missense_Mutation_p.Q81H|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	388	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCGAGGCGCAGATCATGCACC	0.657000													22	51					1.22574e-08	7.58623e-08	0.000295444	1	0
LIPE	3991	broad.mit.edu	37	19	42930475	42930475	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:42930475C>T	ENST00000244289.4	-	1	1103	c.827G>A	c.(826-828)gGg>gAg	p.G276E	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	276					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGCGACGTCCCACTGTATCC	0.502000													22	72					0	0	0.000878237	0	0
ZNF135	7694	broad.mit.edu	37	19	58579313	58579313	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:58579313C>T	ENST00000506786.1	+	5	1889	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	ZNF135_ENST00000511556.1_Silent_p.I499I|ZNF135_ENST00000401053.4_Silent_p.I511I|ZNF135_ENST00000313434.5_Silent_p.I487I|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Silent_p.I487I			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	499					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACCAGCGAATCCACACAGGGG	0.572000													6	23					0	0	0.00116845	0	0
CAPN1	823	broad.mit.edu	37	11	64951035	64951035	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:64951035A>T	ENST00000527323.1	+	3	668	c.428A>T	c.(427-429)aAt>aTt	p.N143I	CAPN1_ENST00000279247.6_Missense_Mutation_p.N143I|CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533820.1_Missense_Mutation_p.N143I|CAPN1_ENST00000533129.1_Missense_Mutation_p.N143I|CAPN1_ENST00000524773.1_Missense_Mutation_p.N143I			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	143	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGCTTCCAGAATGGCTATGCC	0.647000													5	15					0	0	0.000602214	0	0
TENM3	55714	broad.mit.edu	37	4	183664404	183664404	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:183664404G>A	ENST00000511685.1	+	19	3584	c.3461G>A	c.(3460-3462)cGa>cAa	p.R1154Q	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1154Q					teneurin transmembrane protein 3																		GGCAATGGGCGAAGGCGCAGC	0.522000													7	23					0	0	0.000274275	0	0
MYO5B	4645	broad.mit.edu	37	18	47511133	47511133	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:47511133C>T	ENST00000285039.7	-	8	1200	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	301	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.D301N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCTCAGCATCGTCCACACCC	0.552000													26	37					0	0	0.00106085	0	0
SI	6476	broad.mit.edu	37	3	164772993	164772993	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:164772993C>T	ENST00000264382.3	-	13	1563	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	501	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATCCAAAGTCCATCATATTGC	0.328000										HNSCC(35;0.089)			14	58					0	0	0.000219431	0	0
MEFV	4210	broad.mit.edu	37	16	3293408	3293408	+	Missense_Mutation	SNP	C	C	T	rs121907890		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:3293408C>T	ENST00000219596.1	-	10	2118	c.2079G>A	c.(2077-2079)atG>atA	p.M693I	MEFV_ENST00000339854.4_Missense_Mutation_p.M513I|MEFV_ENST00000536379.1_Missense_Mutation_p.M482I|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	693	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TTTCCTTCATCATTATCACCA	0.537000													13	77					0	0	0.000422831	0	0
NUP155	9631	broad.mit.edu	37	5	37294509	37294509	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:37294509G>A	ENST00000231498.3	-	33	4055	c.3852C>T	c.(3850-3852)ttC>ttT	p.F1284F	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Silent_p.F1220F|NUP155_ENST00000381843.2_Silent_p.F1225F	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1284					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGTATTACGAAGCCCACAT	0.333000													10	21					0	0	0.000673444	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246995	89246995	+	RNA	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:89246995G>A	ENST00000496168.1	-	0	355																											GGTTTCTGCTGATACCAGGCC	0.532000													22	56					0	0	0.000375601	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215844	20215844	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:20215844C>T	ENST00000331723.1	+	1	258	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGGGGATTTCCTACAGCAGG	0.458000													15	39					0	0	0.000308642	0	0
KRT76	51350	broad.mit.edu	37	12	53169229	53169229	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:53169229C>T	ENST00000332411.2	-	2	811	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	253	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCAGGTTCCCCCTCTCCCC	0.542000													27	74					0	0	0.001512	0	0
DENND4B	9909	broad.mit.edu	37	1	153912080	153912080	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:153912080G>A	ENST00000361217.4	-	12	2222	c.1804C>T	c.(1804-1806)Ctt>Ttt	p.L602F		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	602	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGAAGAAAAGGTTGTCAACA	0.612000													31	74					0	0	0.000491102	0	0
SFSWAP	6433	broad.mit.edu	37	12	132237735	132237735	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:132237735C>T	ENST00000261674.4	+	8	1290	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	SFSWAP_ENST00000541286.1_Silent_p.P383P	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	383	Poly-Pro.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TGGCGCCGCCCCCTCCCGGAA	0.617000													14	72					0	0	0.000219431	0	0
MYO7B	4648	broad.mit.edu	37	2	128327450	128327450	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:128327450A>G	ENST00000389524.4	+	6	610	c.557A>G	c.(556-558)gAg>gGg	p.E186G	MYO7B_ENST00000428314.1_Missense_Mutation_p.E186G|MYO7B_ENST00000409816.2_Missense_Mutation_p.E186G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	186	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCGTGGATTGAGCAGCAGGTC	0.627000													6	13					0	0	0.00116845	0	0
PSD3	23362	broad.mit.edu	37	8	18729517	18729517	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:18729517C>T	ENST00000440756.2	-	3	959	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	PSD3_ENST00000523619.1_Missense_Mutation_p.R221Q|PSD3_ENST00000327040.8_Missense_Mutation_p.R286Q			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	286					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GGAGCTGCTTCGATCACATCC	0.562000													14	46					0	0	0.000219431	0	0
HMCN1	83872	broad.mit.edu	37	1	186072783	186072783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:186072783C>T	ENST00000271588.4	+	69	10982	c.10753C>T	c.(10753-10755)Cga>Tga	p.R3585*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R3585*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3585	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGGTTCTTCGAATTTCTAC	0.418000													15	30					0	0	0.00121646	0	0
DECR1	1666	broad.mit.edu	37	8	91031345	91031345	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:91031345C>T	ENST00000522161.1	+	6	1018	c.335C>T	c.(334-336)cCt>cTt	p.P112L	DECR1_ENST00000220764.2_Missense_Mutation_p.P121L|DECR1_ENST00000519007.1_3'UTR			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	121					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GTGAGGGATCCTGATATGGTT	0.368000													9	31					0	0	0.000442599	0	0
SPINT1	6692	broad.mit.edu	37	15	41146714	41146714	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:41146714G>A	ENST00000344051.4	+	7	1342	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	SPINT1_ENST00000431806.1_Missense_Mutation_p.E354K|SPINT1_ENST00000562057.1_Missense_Mutation_p.E354K			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	370	LDL-receptor class A.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGCTGCCTGTGAAAAATGTGA	0.627000													15	23					0	0	0.000422831	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118228749	118228749	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:118228749C>G	ENST00000369230.3	+	9	1126	c.980C>G	c.(979-981)gCt>gGt	p.A327G		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	327					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GGTCATTTTGCTGATAGATTT	0.348000													11	22					0	0	0.000978159	0	0
ADAM23	8745	broad.mit.edu	37	2	207310033	207310033	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:207310033C>T	ENST00000264377.3	+	2	545	c.217C>T	c.(217-219)Ccg>Tcg	p.P73S	ADAM23_ENST00000374416.1_Missense_Mutation_p.P73S|ADAM23_ENST00000374415.3_Missense_Mutation_p.P73S	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	73					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCCACCAGCTCCGCATTGGAA	0.408000													8	15					0	0	0.000157383	0	0
PCDH12	51294	broad.mit.edu	37	5	141335152	141335152	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:141335152G>A	ENST00000231484.3	-	1	3475	c.2265C>T	c.(2263-2265)gcC>gcT	p.A755A		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	755					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGACTCGGCCTCCCGAC	0.577000													6	10					0	0	8.12818e-05	0	0
UNC79	57578	broad.mit.edu	37	14	93954022	93954022	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:93954022G>A	ENST00000553484.1	+	5	787	c.633G>A	c.(631-633)agG>agA	p.R211R	UNC79_ENST00000555664.1_Silent_p.R211R|UNC79_ENST00000256339.4_Silent_p.R34R|UNC79_ENST00000393151.2_Silent_p.R211R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	211						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTCCTCAAGGAGAGAAGGTG	0.418000													18	74					0	0	0.00121646	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367384	234367384	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:234367384C>T	ENST00000366618.3	+	3	650	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	SLC35F3_ENST00000366617.3_Missense_Mutation_p.L100F	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	100					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCCCTTCACCCTCACGTGGTT	0.592000													22	79					0	0	0.00188189	0	0
PCLO	27445	broad.mit.edu	37	7	82784478	82784478	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:82784478C>T	ENST00000423517.2	-	2	1816	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	PCLO_ENST00000333891.8_Silent_p.Q493Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	442	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGAGCCAGGCTGTTGAGGTG	0.617000													30	88					0	0	0.000339439	0	0
IZUMO1	284359	broad.mit.edu	37	19	49244255	49244255	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:49244255G>A	ENST00000332955.2	-	10	1510	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	321					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		AGGATTTGATGAAATCGATCA	0.512000													8	29					0	0	0.000673444	0	0
SEC16A	9919	broad.mit.edu	37	9	139370595	139370595	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:139370595G>A	ENST00000313050.7	-	1	1546	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	SEC16A_ENST00000371706.3_Silent_p.P313P|SEC16A_ENST00000290037.6_Silent_p.P313P|SEC16A_ENST00000431893.2_Silent_p.P313P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	313					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCCAGGAAGGGGCCCATATC	0.552000													11	13					0	0	0.000673444	0	0
MAP10	54627	broad.mit.edu	37	1	232943495	232943495	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:232943495C>T	ENST00000418460.1	+	1	2853	c.2726C>T	c.(2725-2727)tCa>tTa	p.S909L		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CCACCTTTTTCAGCCGGGTCA	0.378000													10	21					0	0	0.000442599	0	0
SPAG6	9576	broad.mit.edu	37	10	22690107	22690107	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:22690107G>A	ENST00000376603.2	+	9	1585	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376624.3_Silent_p.K405K|SPAG6_ENST00000376601.1_Silent_p.K166K|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Silent_p.K405K|SPAG6_ENST00000538630.1_Silent_p.K380K			O75602	SPAG6_HUMAN	sperm associated antigen 6	405					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AAGCCATAAAGAATATCCTGC	0.348000													7	23					0	0	0.000157383	0	0
C7	730	broad.mit.edu	37	5	40958162	40958162	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:40958162G>A	ENST00000313164.9	+	11	1647	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	430	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCTGGTAAAGGAAGTACCTTG	0.393000													5	18					0	0	0.000602214	0	0
MUC16	94025	broad.mit.edu	37	19	9060012	9060012	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:9060012G>A	ENST00000397910.4	-	3	27637	c.27434C>T	c.(27433-27435)tCt>tTt	p.S9145F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9147	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						CAGTGAGAAAGAGGCAGAGCT	0.493000													8	22					0	0	0.000157383	0	0
ALS2	57679	broad.mit.edu	37	2	202626056	202626056	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:202626056G>A	ENST00000264276.6	-	4	1033	c.661C>T	c.(661-663)Cct>Tct	p.P221S	ALS2_ENST00000467448.1_Missense_Mutation_p.P221S	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	221					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCCTGGGAAGGGAGGCATTGT	0.502000													10	34					0	0	0.00136819	0	0
DSG4	147409	broad.mit.edu	37	18	28968370	28968370	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:28968370G>A	ENST00000359747.4	+	4	286	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.R86Q|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	86	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATAACATACCGGATTTCTGGA	0.403000													6	13					0	0	0.00116845	0	0
NLGN2	57555	broad.mit.edu	37	17	7318893	7318893	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:7318893C>T	ENST00000302926.2	+	6	1174	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	NLGN2_ENST00000575301.1_Silent_p.L367L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	367					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CTGAGATCCTCATGCAGCAGG	0.612000													20	43					0	0	0.000958276	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202910757	202910757	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:202910757G>A	ENST00000340990.5	-	8	1370	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.L358F	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	358					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AATTCCTGAAGGTTGGAGACT	0.507000													12	45					0	0	0.00185496	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564916	47564916	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:47564916G>A	ENST00000334194.3	+	8	1030	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	343						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATGCCGAGATGAAATCAGGGA	0.438000													8	19					0	0	0.000157383	0	0
MUS81	80198	broad.mit.edu	37	11	65631970	65631970	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:65631970C>T	ENST00000308110.4	+	11	1411	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	MUS81_ENST00000533035.1_Silent_p.F279F	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	354	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TTCCCTAGTTCCGGCTGAAGC	0.587000								Homologous recombination					7	21					0	0	0.000442599	0	0
DMBX1	127343	broad.mit.edu	37	1	46976687	46976687	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:46976687G>A	ENST00000371956.4	+	3	444	c.429G>A	c.(427-429)gaG>gaA	p.E143E	DMBX1_ENST00000360032.3_Silent_p.E138E	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	143	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCAGAAGGAGGCTGAGGGCT	0.647000													6	30					0	0	8.12818e-05	0	0
PDE3B	5140	broad.mit.edu	37	11	14808177	14808177	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:14808177C>T	ENST00000282096.4	+	3	1577	c.1224C>T	c.(1222-1224)taC>taT	p.Y408Y	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	408					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGGATTTTACCCCTGTTCTG	0.388000													37	80					0	0	0.000437636	0	0
PER3	8863	broad.mit.edu	37	1	7863183	7863183	+	Missense_Mutation	SNP	C	C	T	rs145870917		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:7863183C>T	ENST00000377532.3	+	8	1173	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	PER3_ENST00000361923.2_Missense_Mutation_p.R316C|PER3_ENST00000377541.1_Missense_Mutation_p.R316C			P56645	PER3_HUMAN	period circadian clock 3	316	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGAAGATCGTTCTCTGAT	0.428000													29	71					0	0	0.000491102	0	0
BRPF1	7862	broad.mit.edu	37	3	9781055	9781055	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:9781055C>T	ENST00000383829.2	+	3	1376	c.972C>T	c.(970-972)ccC>ccT	p.P324P	BRPF1_ENST00000302054.3_Silent_p.P324P|BRPF1_ENST00000424362.1_Silent_p.P324P|BRPF1_ENST00000457855.1_Silent_p.P324P|BRPF1_ENST00000433861.2_Silent_p.P324P	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	324					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TGCAGTCACCCTCTCGTGCTG	0.622000													22	22					0	0	0.00188189	0	0
PLEC	5339	broad.mit.edu	37	8	144995445	144995445	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:144995445G>A	ENST00000322810.4	-	32	9124	c.8955C>T	c.(8953-8955)gaC>gaT	p.D2985D	PLEC_ENST00000527096.1_Silent_p.D2871D|PLEC_ENST00000398774.2_Silent_p.D2816D|PLEC_ENST00000436759.2_Silent_p.D2875D|PLEC_ENST00000357649.2_Silent_p.D2852D|PLEC_ENST00000354958.2_Silent_p.D2826D|PLEC_ENST00000356346.3_Silent_p.D2834D|PLEC_ENST00000345136.3_Silent_p.D2848D|PLEC_ENST00000354589.3_Silent_p.D2848D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2985	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTGGTGTCGTCGCTGGGGT	0.662000													17	71					0	0	0.000566183	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43630635	43630635	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:43630635G>A	ENST00000332857.6	-	1	95	c.67C>T	c.(67-69)Cca>Tca	p.P23S		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AACACCCATGGTGTGGAGCTG	0.473000													24	28					0	0	0.000720815	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106096799	106096799	+	Silent	SNP	T	T	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:106096799T>G	ENST00000357242.5	+	13	2346	c.2172T>G	c.(2170-2172)gtT>gtG	p.V724V	TBC1D8B_ENST00000276175.3_Silent_p.V718V	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	724						intracellular	calcium ion binding|Rab GTPase activator activity			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						CTTCAAATGTTCAGCAAGGTT	0.323000													25	21					0	0	0.000586117	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33566325	33566325	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:33566325C>T	ENST00000321505.4	+	2	2075	c.1895C>T	c.(1894-1896)tCa>tTa	p.S632L	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S638L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S638L					KIAA1549-like																		GACACAGTATCATCTAAGGTA	0.463000													9	15					0	0	0.000274275	0	0
ITGA6	3655	broad.mit.edu	37	2	173351768	173351768	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:173351768G>A	ENST00000375221.2	+	15	2192	c.1989G>A	c.(1987-1989)gaG>gaA	p.E663E	ITGA6_ENST00000343713.4_Silent_p.E619E|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Silent_p.E624E|ITGA6_ENST00000409532.1_Silent_p.E505E|ITGA6_ENST00000409080.1_Silent_p.E624E|ITGA6_ENST00000264106.6_Silent_p.E663E			P23229	ITA6_HUMAN	integrin, alpha 6	663					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTTAAAAGAGGGATGTGGAG	0.378000													9	14					0	0	0.00136819	0	0
BDKRB2	624	broad.mit.edu	37	14	96706842	96706842	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:96706842C>T	ENST00000542454.2	+	3	3184	c.96C>T	c.(94-96)atC>atT	p.I32I	BDKRB2_ENST00000554311.1_Silent_p.I59I|BDKRB2_ENST00000306005.3_Silent_p.I59I|BDKRB2_ENST00000539359.1_Silent_p.I32I|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	59					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCAACACCATCCAGCCCCCCT	0.597000													27	90					0	0	0.000878237	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321336	79321336	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:79321336C>T	ENST00000428286.1	-	8	5977	c.4777G>A	c.(4777-4779)Gaa>Aaa	p.E1593K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1952K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1952					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTAGGTGTTTCAGGAGTCAGC	0.463000													25	35					0	0	0.000375601	0	0
GSTA5	221357	broad.mit.edu	37	6	52697667	52697667	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:52697667G>A	ENST00000370989.1	-	6	694	c.536C>T	c.(535-537)cCt>cTt	p.P179L	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.P179L			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	179	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.P179H(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTTCAGCAGAGGGAAGCTGGA	0.517000													12	48					0	0	0.00185496	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798785	55798785	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55798785G>A	ENST00000313555.1	+	1	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACAAGGATGTGAAAAATGCTC	0.313000													14	47					0	0	0.00185496	0	0
OR8U1	219417	broad.mit.edu	37	11	56143652	56143652	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:56143652C>T	ENST00000302270.1	+	1	553	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CATGCCTCTCCTCAGGCTAAC	0.463000													25	126					0	0	0.001512	0	0
HTR3E	285242	broad.mit.edu	37	3	183818418	183818418	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:183818418G>A	ENST00000415389.2	+	2	679	c.213G>A	c.(211-213)gcG>gcA	p.A71A	HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Silent_p.A71A|HTR3E_ENST00000335304.2_Silent_p.A86A|HTR3E_ENST00000440596.2_Silent_p.A86A|HTR3E_ENST00000436361.2_Silent_p.A86A	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	71			A -> T (in dbSNP:rs7627615).			integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCTCCTTCGCGATGTCTGCCA	0.557000													25	42					0	0	0.001512	0	0
SORL1	6653	broad.mit.edu	37	11	121429346	121429346	+	Missense_Mutation	SNP	C	C	T	rs148966249		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:121429346C>T	ENST00000260197.7	+	20	2839	c.2710C>T	c.(2710-2712)Cgg>Tgg	p.R904W		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	904					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGGATTTATCGGAGCAATAT	0.507000													34	82					0	0	0.000953801	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762117	92762117	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:92762117G>A	ENST00000318238.4	-	5	4384	c.3168C>T	c.(3166-3168)tcC>tcT	p.S1056S	SAMD9L_ENST00000437805.1_Silent_p.S1056S|SAMD9L_ENST00000411955.1_Silent_p.S1056S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1056										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCATTAATGGGGAAAACAGAG	0.388000													20	44					0	0	0.000958276	0	0
IKZF1	10320	broad.mit.edu	37	7	50455127	50455127	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:50455127A>T	ENST00000331340.3	+	6	829	c.674A>T	c.(673-675)aAc>aTc	p.N225I	IKZF1_ENST00000343574.5_Missense_Mutation_p.N138I|IKZF1_ENST00000438033.1_Missense_Mutation_p.N138I|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	225					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCTGCCACAACTACTTGGAA	0.542000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	9					0	0	0.000157383	0	0
TVP23A	780776	broad.mit.edu	37	16	10867224	10867224	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:10867224C>T	ENST00000299866.8	-	5	690	c.399G>A	c.(397-399)atG>atA	p.M133I	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1			trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)																		CAATCCATATCATGGGGCAGA	0.423000													21	48					0	0	0.00152264	0	0
CAP2	10486	broad.mit.edu	37	6	17507930	17507930	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:17507930A>G	ENST00000229922.2	+	6	1035	c.503A>G	c.(502-504)aAc>aGc	p.N168S	CAP2_ENST00000378990.2_Missense_Mutation_p.N142S|CAP2_ENST00000489374.1_Intron|CAP2_ENST00000465994.1_Intron|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	168					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTTTACACTAACAGGGTCTTA	0.418000													24	50					0	0	0.000720815	0	0
POT1	25913	broad.mit.edu	37	7	124503687	124503687	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:124503687A>G	ENST00000357628.3	-	8	861	c.263T>C	c.(262-264)gTa>gCa	p.V88A	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	88					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CTTTTTATATACTTGAATCTA	0.398000													12	32					0	0	0.000308642	0	0
TRIML2	205860	broad.mit.edu	37	4	189012605	189012605	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:189012605G>A	ENST00000512729.1	-	7	1460	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	TRIML2_ENST00000326754.3_Silent_p.I387I	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	362	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCCATTTGGGATACAGAGGG	0.458000													19	46					0	0	0.00121646	0	0
DENND1A	57706	broad.mit.edu	37	9	126319882	126319882	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:126319882G>A	ENST00000373624.2	-	13	1161	c.960C>T	c.(958-960)ttC>ttT	p.F320F	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Silent_p.F320F|DENND1A_ENST00000394215.2_Silent_p.F290F|DENND1A_ENST00000394219.3_Silent_p.F288F|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000373618.1_Silent_p.F288F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	320	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGTAGCTACCGAAGAAAGCAG	0.552000													7	13					0	0	8.12818e-05	0	0
DYSF	8291	broad.mit.edu	37	2	71871148	71871148	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:71871148G>A	ENST00000258104.3	+	41	4741	c.4464G>A	c.(4462-4464)agG>agA	p.R1488R	DYSF_ENST00000410020.3_Silent_p.R1527R|DYSF_ENST00000409366.1_Silent_p.R1510R|DYSF_ENST00000409651.1_Silent_p.R1520R|DYSF_ENST00000410041.1_Silent_p.R1506R|DYSF_ENST00000409744.1_Silent_p.R1496R|DYSF_ENST00000413539.2_Silent_p.R1519R|DYSF_ENST00000394120.2_Silent_p.R1489R|DYSF_ENST00000409762.1_Silent_p.R1505R|DYSF_ENST00000429174.2_Silent_p.R1509R|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Silent_p.R1526R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1488						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TAGGGGAGAGGGAAAAGTGCG	0.517000													3	7					0	0	6.4e-05	0	0
PIGU	128869	broad.mit.edu	37	20	33173253	33173253	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:33173253G>C	ENST00000374820.2	-	8	874	c.854C>G	c.(853-855)gCc>gGc	p.A285G	PIGU_ENST00000452740.2_Missense_Mutation_p.A305G|PIGU_ENST00000480175.1_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	305	May be involved in recognition of long- chain fatty acids in GPI.				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						TAGCTTTATGGCTAAGGGGAT	0.483000													23	65					0	0	0.000586117	0	0
AAAS	8086	broad.mit.edu	37	12	53709124	53709124	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:53709124G>A	ENST00000209873.4	-	4	559	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Silent_p.L132L|AAAS_ENST00000549983.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	132					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CTTACAGACAGATGGGGGAAC	0.582000													5	17					0	0	0.000602214	0	0
NRP1	8829	broad.mit.edu	37	10	33542975	33542975	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:33542975G>A	ENST00000265371.4	-	7	1487	c.962C>T	c.(961-963)tCc>tTc	p.S321F	NRP1_ENST00000395995.1_Missense_Mutation_p.S321F|NRP1_ENST00000374816.3_Missense_Mutation_p.S321F|NRP1_ENST00000374821.5_Missense_Mutation_p.S321F|NRP1_ENST00000374822.4_Missense_Mutation_p.S321F|NRP1_ENST00000374867.2_Missense_Mutation_p.S321F|NRP1_ENST00000374823.5_Missense_Mutation_p.S321F			O14786	NRP1_HUMAN	neuropilin 1	321	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTCTCGGTAGGAATCCTCTCC	0.483000													9	27					0	0	0.000442599	0	0
PRR14L	253143	broad.mit.edu	37	22	32072955	32072955	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr22:32072955G>A	ENST00000397493.2	-	9	6421	c.6229C>T	c.(6229-6231)Ctg>Ttg	p.L2077L				Q5THK1	PR14L_HUMAN	proline rich 14-like	2077										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CCGAATACCAGGAAGTGCCCG	0.597000													4	13					0	0	0.00024832	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798591	57798591	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:57798591G>A	ENST00000302622.3	+	1	190	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTGGACCACCGACTACGGAGA	0.478000													31	97					0	0	0.00058488	0	0
PARD3B	117583	broad.mit.edu	37	2	205986532	205986532	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:205986532G>A	ENST00000406610.2	+	8	1231	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	PARD3B_ENST00000349953.3_Missense_Mutation_p.D342N|PARD3B_ENST00000358768.2_Missense_Mutation_p.D342N|PARD3B_ENST00000462231.1_Missense_Mutation_p.D342N|PARD3B_ENST00000351153.1_Missense_Mutation_p.D342N	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	342					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCCTGAAACAGATGCATCAGC	0.493000													8	15					0	0	0.000442599	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530530	125530530	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:125530530G>A	ENST00000431078.1	+	17	3049	c.2685G>A	c.(2683-2685)agG>agA	p.R895R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	895	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCTTCCAAGGAGCACCAGGG	0.532000													22	69					0	0	0.000720815	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546850	37546850	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:37546850C>T	ENST00000299824.1	+	11	1434	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	PPP1R16B_ENST00000373331.2_Silent_p.I373I	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	415					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTACCAAGATCCCACGAGGTG	0.567000													37	102					0	0	0.000814825	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309704	22309704	+	RNA	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:22309704C>T	ENST00000390433.1	+	0	88																											GGAGCAGGATCCTGGACCCTT	0.493000													9	17					0	0	0.000673444	0	0
CIB4	130106	broad.mit.edu	37	2	26852339	26852339	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:26852339C>T	ENST00000288861.4	-	3	178	c.125G>A	c.(124-126)gGg>gAg	p.G42E		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	42							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGTACTTCCCAGGAGGGCA	0.612000													3	8					0	0	0.00024832	0	0
PALLD	23022	broad.mit.edu	37	4	169604158	169604158	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:169604158G>A	ENST00000335742.7	+	5	1375	c.18G>A	c.(16-18)aaG>aaA	p.K6K	PALLD_ENST00000505667.1_Silent_p.K388K|PALLD_ENST00000261509.6_Silent_p.K388K|PALLD_ENST00000333488.4_Silent_p.K265K|PALLD_ENST00000512127.1_Silent_p.K6K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	388					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAGCTCAAAAGAAAACAACTT	0.368000									Pancreatic Cancer, Familial Clustering of				6	22					0	0	0.00116845	0	0
KLHL5	51088	broad.mit.edu	37	4	39114659	39114659	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:39114659C>T	ENST00000261425.3	+	10	1860	c.1708C>T	c.(1708-1710)Cgt>Tgt	p.R570C	KLHL5_ENST00000261426.5_Missense_Mutation_p.R555C|KLHL5_ENST00000381930.3_Missense_Mutation_p.R616C|KLHL5_ENST00000508137.2_Missense_Mutation_p.R429C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R616C|KLHL5_ENST00000504108.1_Missense_Mutation_p.R616C|RP11-360F5.1_ENST00000509449.1_RNA	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	616						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGTTGGTGGTCGTGATGGAAG	0.378000													11	27					0	0	0.00136819	0	0
C10orf54	64115	broad.mit.edu	37	10	73521673	73521673	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:73521673C>T	ENST00000394957.3	-	2	251	c.193G>A	c.(193-195)Gat>Aat	p.D65N	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	65	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						AAGGTCACATCGTGCCCTTTG	0.622000													10	33					0	0	0.000978159	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022551	161022551	+	Missense_Mutation	SNP	C	C	T	rs140780168		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:161022551C>T	ENST00000368013.3	-	7	1021	c.701G>A	c.(700-702)gGg>gAg	p.G234E	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G57E|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.G234E	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	234					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGCCCGGGTCCCTGGAAGCGA	0.617000													7	25					0	0	0.000442599	0	0
NCOA6	23054	broad.mit.edu	37	20	33337510	33337510	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:33337510G>A	ENST00000374796.2	-	10	5058	c.2488C>T	c.(2488-2490)Ccc>Tcc	p.P830S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P830S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	830	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACATGAGGGGGGACCATGTTG	0.507000													17	67					0	0	0.00074312	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888848	51888848	+	Silent	SNP	C	C	T	rs141954048		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:51888848C>T	ENST00000453097.2	+	21	3106	c.2889C>T	c.(2887-2889)ctC>ctT	p.L963L	SLC4A8_ENST00000358657.3_Silent_p.L990L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	963					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.L963L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGACCTGTCTCGTCCTGCTCT	0.468000													12	49					0	0	0.000219431	0	0
TACR3	6870	broad.mit.edu	37	4	104640509	104640509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:104640509C>T	ENST00000304883.2	-	1	464	c.324G>A	c.(322-324)tgG>tgA	p.W108*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	108						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)		CCAGGATGATCCAGATGACGA	0.582000													10	40					0	0	0.000442599	0	0
HLCS	3141	broad.mit.edu	37	21	38309303	38309303	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr21:38309303G>A	ENST00000399120.1	-	5	1672	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	HLCS_ENST00000336648.3_Missense_Mutation_p.P148S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	148					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTCTTTCGGGGGAGGTCTCA	0.557000													7	20					0	0	0.000157383	0	0
CLCA1	1179	broad.mit.edu	37	1	86959252	86959252	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:86959252G>A	ENST00000234701.3	+	11	2001	c.1650G>A	c.(1648-1650)atG>atA	p.M550I	CLCA1_ENST00000394711.1_Missense_Mutation_p.M550I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	550					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ACACCAAAATGGCCTACCTCC	0.403000													14	33					0	0	0.000308642	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433012	67433012	+	Silent	SNP	G	G	A	rs142189245	byFrequency	TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:67433012G>A	ENST00000349015.3	-	7	888	c.450C>T	c.(448-450)cgC>cgT	p.R150R	ALDH3B2_ENST00000530069.1_Silent_p.R150R	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	150					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	ACCAGGCCACGCGGTTGGCCA	0.672000													32	75					0	0	0.000814825	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443922	61443922	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:61443922G>A	ENST00000395348.3	-	2	764	c.128C>T	c.(127-129)gCc>gTc	p.A43V	SLC16A9_ENST00000490066.1_5'UTR|SLC16A9_ENST00000395347.1_Missense_Mutation_p.A43V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	43					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TTCACCAAAGGCATCCAGCCA	0.473000													32	72					0	0	0.00128727	0	0
OTOGL	283310	broad.mit.edu	37	12	80658957	80658957	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:80658957C>T	ENST00000458043.2	+	19	2170	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S	OTOGL_ENST00000547103.1_Missense_Mutation_p.P722S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCACGGTGTTCCCATTGATTT	0.468000													11	26					0	0	0.000978159	0	0
BEND4	389206	broad.mit.edu	37	4	42127619	42127619	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:42127619G>A	ENST00000502486.1	-	4	1706	c.1127C>T	c.(1126-1128)cCa>cTa	p.P376L	BEND4_ENST00000504360.1_Missense_Mutation_p.P372L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	376										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CTGGTCAGCTGGCTGTGGTAT	0.443000													8	25					0	0	0.00136819	0	0
MARC2	54996	broad.mit.edu	37	1	220953378	220953378	+	Silent	SNP	C	C	T	rs140582959	by1000genomes	TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:220953378C>T	ENST00000366913.3	+	5	967	c.769C>T	c.(769-771)Cta>Tta	p.L257L	MARC2_ENST00000472447.1_3'UTR|MARC2_ENST00000359316.2_Intron	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	257	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GGATGAACTCCTAATTGGTAG	0.423000													14	29					0	0	0.000308642	0	0
ADAP2	55803	broad.mit.edu	37	17	29284864	29284864	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:29284864G>A	ENST00000330889.3	+	11	1458	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	ADAP2_ENST00000580525.1_Missense_Mutation_p.E381K	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	375					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGCATCAACAGAGAGTGGCCG	0.572000													3	7					0	0	6.4e-05	0	0
OR4S2	219431	broad.mit.edu	37	11	55419023	55419023	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55419023C>T	ENST00000312422.2	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTGCTAATCTCCTACAGCATC	0.483000													25	76					0	0	0.00047179	0	0
EOMES	8320	broad.mit.edu	37	3	27759079	27759079	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:27759079G>A	ENST00000295743.4	-	6	1746	c.1543C>T	c.(1543-1545)Ccc>Tcc	p.P515S	EOMES_ENST00000449599.1_Missense_Mutation_p.P534S|EOMES_ENST00000537516.1_Missense_Mutation_p.P239S			O95936	EOMES_HUMAN	eomesodermin	515					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CACCGCTGGGGAGGGTTGGCC	0.522000													30	90					0	0	0.00058488	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640355	99640355	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:99640355C>T	ENST00000547776.2	-	13	2043	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.E262K|ANKS1B_ENST00000329257.7_Missense_Mutation_p.E682K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	682						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTATGGTTTTCGAGTTGGTTG	0.428000													4	12					0	0	0.000602214	0	0
BCAS3	54828	broad.mit.edu	37	17	58952089	58952089	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:58952089C>T	ENST00000589222.1	+	9	719	c.651C>T	c.(649-651)ttC>ttT	p.F217F	BCAS3_ENST00000408905.3_Silent_p.F217F|BCAS3_ENST00000588462.1_Silent_p.F217F|BCAS3_ENST00000390652.5_Silent_p.F217F|BCAS3_ENST00000407086.3_Silent_p.F217F			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	217						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGAAGAAATTCTTTGTTACAA	0.333000													10	31					0	0	0.000978159	0	0
KEL	3792	broad.mit.edu	37	7	142649676	142649676	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:142649676G>A	ENST00000355265.2	-	10	1597	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	375					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCAGGGCTGGAGAAAGGGTC	0.552000													9	24					0	0	0.000274275	0	0
C8B	732	broad.mit.edu	37	1	57399146	57399146	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:57399146C>T	ENST00000543257.1	-	11	1824	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	C8B_ENST00000535057.1_Missense_Mutation_p.E410K|C8B_ENST00000371237.4_Missense_Mutation_p.E472K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	472	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTCACTAGTTCATACAGAGGC	0.438000													7	21					0	0	0.000157383	0	0
FAT1	2195	broad.mit.edu	37	4	187629536	187629536	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:187629536G>A	ENST00000441802.2	-	2	1655	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	482	Cadherin 4.			V -> I (in Ref. 1; CAA60685).	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGGCTCATGACAGTAGTAC	0.463000										HNSCC(5;0.00058)			21	60					0	0	0.00188189	0	0
COL6A2	1292	broad.mit.edu	37	21	47531410	47531410	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr21:47531410C>T	ENST00000300527.4	+	2	124	c.20C>T	c.(19-21)tCc>tTc	p.S7F	COL6A2_ENST00000397763.1_Missense_Mutation_p.S7F|COL6A2_ENST00000310645.5_Missense_Mutation_p.S7F|COL6A2_ENST00000357838.4_Missense_Mutation_p.S7F|COL6A2_ENST00000409416.1_Missense_Mutation_p.S7F	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	7					axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCACCTGCTCCGTGCTCCTG	0.657000													10	18					0	0	0.000978159	0	0
AMBP	259	broad.mit.edu	37	9	116835233	116835233	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:116835233C>T	ENST00000265132.3	-	5	790	c.528G>A	c.(526-528)gaG>gaA	p.E176E		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	176					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGATGGAGTCCTCAGGGATGC	0.627000													4	7					0	0	0.00116845	0	0
MYO18B	84700	broad.mit.edu	37	22	26423441	26423441	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr22:26423441G>A	ENST00000335473.7	+	43	7751	c.7501G>A	c.(7501-7503)Gat>Aat	p.D2501N	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2501N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D2502N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2501						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCCAAGGAGGATCCCGCTCA	0.532000													8	8					0	0	0.000274275	0	0
ACD	65057	broad.mit.edu	37	16	67694229	67694229	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:67694229G>A	ENST00000219251.8	-	1	484	c.153C>T	c.(151-153)ctC>ctT	p.L51L	ACD_ENST00000393919.4_Silent_p.L51L	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGGCCGGAGGAGGAGGCCCC	0.751000													5	8					0	0	0.00116845	0	0
OR2L8	391190	broad.mit.edu	37	1	248112820	248112820	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:248112820C>T	ENST00000357191.3	+	1	661	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGGCCAGGTTCTCTTTGCTGT	0.468000													11	63					0	0	0.000219431	0	0
COBL	23242	broad.mit.edu	37	7	51111163	51111163	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:51111163G>A	ENST00000395542.2	-	10	1753	c.1569C>T	c.(1567-1569)gaC>gaT	p.D523D	COBL_ENST00000265136.7_Silent_p.D441D			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	441										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGAGGTCCTGGTCACTGCAGT	0.562000													16	36					0	0	0.000422831	0	0
EMR1	2015	broad.mit.edu	37	19	6896500	6896500	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:6896500C>T	ENST00000312053.4	+	3	223	c.186C>T	c.(184-186)ttC>ttT	p.F62F	EMR1_ENST00000250572.8_Silent_p.F62F|EMR1_ENST00000381407.5_Silent_p.F62F|EMR1_ENST00000381404.4_Silent_p.F62F|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000450315.3_Silent_p.F62F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	62	EGF-like 1.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)					AACAAGGCTTCCTGTCCAGCA	0.473000													20	26					0	0	0.00121646	0	0
SOAT2	8435	broad.mit.edu	37	12	53499791	53499791	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:53499791G>A	ENST00000301466.3	+	5	496	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	146					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						CTTCATTGATGAGGGCAGGTA	0.577000													10	18					0	0	0.000673444	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363747	21363747	+	RNA	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr22:21363747G>A	ENST00000452284.1	+	0	1414				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						ATCTGCCTGAGAGAAACCAGA	0.582000													4	8					0	0	0.00024832	0	0
PCLO	27445	broad.mit.edu	37	7	82579500	82579500	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:82579500C>T	ENST00000423517.2	-	6	10741	c.10404G>A	c.(10402-10404)gtG>gtA	p.V3468V	PCLO_ENST00000333891.8_Silent_p.V3468V|PCLO_ENST00000437081.1_Silent_p.V188V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3399					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGCTTGTATCCACACTCTTTT	0.438000													8	28					0	0	0.000274275	0	0
GUCA2B	2981	broad.mit.edu	37	1	42620375	42620375	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:42620375G>A	ENST00000372581.1	+	2	145	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	39					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTCCAGCTGGAATCCATGAA	0.642000													12	25					0	0	0.000422831	0	0
GPR112	139378	broad.mit.edu	37	X	135426620	135426620	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:135426620C>T	ENST00000394143.1	+	6	1046	c.755C>T	c.(754-756)cCa>cTa	p.P252L	GPR112_ENST00000287534.4_Missense_Mutation_p.P189L|GPR112_ENST00000370652.1_Missense_Mutation_p.P252L|GPR112_ENST00000412101.1_Missense_Mutation_p.P47L|GPR112_ENST00000394141.1_Missense_Mutation_p.P47L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	252					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGACCACTCCATCCCAAATT	0.323000													12	8					0	0	0.000219431	0	0
TLN2	83660	broad.mit.edu	37	15	62948154	62948154	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:62948154G>A	ENST00000561311.1	+	7	759	c.529G>A	c.(529-531)Gat>Aat	p.D177N	TLN2_ENST00000306829.6_Missense_Mutation_p.D177N			Q9Y4G6	TLN2_HUMAN	talin 2	177	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.D177Y(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAATTGGCTGGATCACAGCCG	0.378000													9	20					0	0	0.000673444	0	0
DLGAP5	9787	broad.mit.edu	37	14	55655683	55655683	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:55655683G>A	ENST00000247191.2	-	2	431	c.215C>T	c.(214-216)cCa>cTa	p.P72L	DLGAP5_ENST00000395425.2_Missense_Mutation_p.P72L	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	72					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTCTTTTCTGGAACAAGCCC	0.343000													9	22					0	0	0.000442599	0	0
NEBL	10529	broad.mit.edu	37	10	21074831	21074831	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:21074831C>T	ENST00000377122.4	-	28	3286	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	NEBL_ENST00000377159.4_Missense_Mutation_p.D186N|NEBL_ENST00000417816.2_Missense_Mutation_p.D220N	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	964	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACTGTAATCGTACATGGCT	0.502000													21	47					0	0	0.000878237	0	0
CD300LG	146894	broad.mit.edu	37	17	41926191	41926191	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:41926191G>A	ENST00000317310.4	+	2	350	c.309G>A	c.(307-309)ggG>ggA	p.G103G	CD300LG_ENST00000377203.4_Silent_p.G103G|CD300LG_ENST00000586233.1_Silent_p.G103G|CD300LG_ENST00000293396.8_Silent_p.G103G|CD300LG_ENST00000539718.1_Silent_p.G103G|CD300LG_ENST00000588884.1_Silent_p.G103G	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	103	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AAGACGCTGGGGAGTACTGGT	0.572000													24	46					0	0	0.000339439	0	0
CLCN5	1184	broad.mit.edu	37	X	49846336	49846336	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:49846336T>A	ENST00000376088.3	+	9	1406	c.765T>A	c.(763-765)taT>taA	p.Y255*	CLCN5_ENST00000307367.2_Nonsense_Mutation_p.Y185*|CLCN5_ENST00000376091.3_Nonsense_Mutation_p.Y255*|CLCN5_ENST00000376108.3_Nonsense_Mutation_p.Y185*	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	185					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TTAGGGGCTATTTGGGTAAGT	0.448000													13	24					0	0	0.000308642	0	0
LILRP2	79166	broad.mit.edu	37	19	55221553	55221553	+	RNA	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:55221553G>A	ENST00000413439.1	+	0	1333																											TCTCCCACGGGGGCCAGTACA	0.677000													10	17					0	0	0.000978159	0	0
MARCH1	55016	broad.mit.edu	37	4	164450167	164450167	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:164450167C>T	ENST00000503008.1	-	8	1579	c.603G>A	c.(601-603)ctG>ctA	p.L201L	MARCH1_ENST00000339875.5_Silent_p.L184L|MARCH1_ENST00000514618.1_Silent_p.L457L|MARCH1_ENST00000274056.7_Silent_p.L201L	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	201					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTACCACAACCAGTTTTGTCC	0.423000													5	12					0	0	0.00116845	0	0
LAMB4	22798	broad.mit.edu	37	7	107707021	107707021	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:107707021G>A	ENST00000388781.3	-	20	2554	c.2471C>T	c.(2470-2472)tCa>tTa	p.S824L	LAMB4_ENST00000388780.3_Missense_Mutation_p.S824L|LAMB4_ENST00000205386.4_Missense_Mutation_p.S824L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	824	Laminin EGF-like 7.				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						AGTGTCCTTTGATCCTTGAGG	0.532000													6	9					0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179579825	179579825	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:179579825G>A	ENST00000589042.1	-	90	26312	c.26088C>T	c.(26086-26088)ttC>ttT	p.F8696F	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.F7452F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.F8379F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8379	Ig-like 69.						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)			TACTGGTTAGGAAGTTCTCAG	0.453000													40	132					0	0	0.000437636	0	0
FOXP1	27086	broad.mit.edu	37	3	71096118	71096118	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:71096118G>A	ENST00000318789.4	-	10	1164	c.639C>T	c.(637-639)gcC>gcT	p.A213A	FOXP1_ENST00000475937.1_Silent_p.A213A|FOXP1_ENST00000491238.1_Silent_p.A215A|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000493089.1_Silent_p.A213A|FOXP1_ENST00000498215.1_Silent_p.A213A|FOXP1_ENST00000468577.1_Silent_p.A213A|FOXP1_ENST00000484350.1_Silent_p.A137A	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	213	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAAGGGGAAGGGCAGGCTGCC	0.517000			T	PAX5	ALL								40	81					0	0	0.000781405	0	0
FIBCD1	84929	broad.mit.edu	37	9	133780666	133780666	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:133780666C>T	ENST00000372338.4	-	6	1323	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.E361K|FIBCD1_ENST00000372337.2_Missense_Mutation_p.E203K	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	361	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TACCCGTCTTCCTCAGGGTCC	0.652000													4	19					0	0	0.00024832	0	0
GCN1L1	10985	broad.mit.edu	37	12	120585041	120585041	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:120585041G>A	ENST00000300648.6	-	38	4774	c.4762C>T	c.(4762-4764)Ccc>Tcc	p.P1588S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1588					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCTGGAGGGATCCGTCAGG	0.562000													5	14					0	0	0.000602214	0	0
OR2B3	442184	broad.mit.edu	37	6	29054925	29054925	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:29054925G>A	ENST00000377173.2	-	1	165	c.101C>T	c.(100-102)tCa>tTa	p.S34L		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GATTGTGTATGATATTAACAG	0.408000													14	37					0	0	0.000219431	0	0
OR1A1	8383	broad.mit.edu	37	17	3119002	3119002	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:3119002C>T	ENST00000304094.1	+	1	88	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTCTACATCCTCTTCTTGTT	0.443000													28	35					0	0	0.00106085	0	0
DECR1	1666	broad.mit.edu	37	8	91031344	91031344	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:91031344C>T	ENST00000522161.1	+	6	1017	c.334C>T	c.(334-336)Cct>Tct	p.P112S	DECR1_ENST00000220764.2_Missense_Mutation_p.P121S|DECR1_ENST00000519007.1_3'UTR			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	121					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGTGAGGGATCCTGATATGGT	0.368000													9	31					0	0	0.000442599	0	0
HEPHL1	341208	broad.mit.edu	37	11	93819248	93819248	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:93819248G>A	ENST00000315765.9	+	11	1981	c.1973G>A	c.(1972-1974)gGa>gAa	p.G658E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	658	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACATGCATGGAATTGTTTTT	0.507000													10	23					0	0	0.000673444	0	0
MAN2A1	4124	broad.mit.edu	37	5	109178139	109178139	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:109178139T>C	ENST00000261483.4	+	17	3729	c.2677T>C	c.(2677-2679)Tat>Cat	p.Y893H		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	893					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAATAGATTTTATACTGACCT	0.308000													10	20					0	0	0.000673444	0	0
CCDC151	115948	broad.mit.edu	37	19	11537855	11537855	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:11537855C>T	ENST00000356392.4	-	4	537	c.450G>A	c.(448-450)ctG>ctA	p.L150L	CCDC151_ENST00000545100.1_Silent_p.L96L|CCDC151_ENST00000591179.1_Silent_p.L124L|CCDC151_ENST00000586836.1_5'UTR	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	150										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTAGGTGCTCCAGGGCCTGCC	0.652000													4	6					0	0	0.00024832	0	0
NUTM2A	728118	broad.mit.edu	37	10	88988226	88988226	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:88988226G>A	ENST00000381689.4	+	2	920	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	NUTM2A_ENST00000381707.2_Missense_Mutation_p.G197R|NUTM2A-AS1_ENST00000451940.2_RNA					NUT family member 2A																		CGGCCCGAGTGGGGCCGGGGC	0.657000													9	28					0	0	0.000442599	0	0
NCEH1	57552	broad.mit.edu	37	3	172351837	172351837	+	Silent	SNP	A	A	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:172351837A>G	ENST00000475381.1	-	5	888	c.655T>C	c.(655-657)Tta>Cta	p.L219L	NCEH1_ENST00000538775.1_Silent_p.L259L|NCEH1_ENST00000543711.1_Silent_p.L86L|NCEH1_ENST00000273512.3_Silent_p.L251L			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	219					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GGATAAATTAAAGCTTGTAGT	0.363000													11	27					0	0	0.000978159	0	0
OR5F1	338674	broad.mit.edu	37	11	55761808	55761808	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55761808G>A	ENST00000278409.1	-	1	293	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ACATCTGTAGGAAGCAGCCAG	0.468000													15	46					0	0	0.000422831	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35900534	35900534	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:35900534G>A	ENST00000325722.3	-	21	3345	c.3111C>T	c.(3109-3111)acC>acT	p.T1037T	KIAA0319L_ENST00000373266.4_Silent_p.T474T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1037						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTTCAGAGGGGTCTGCCCGT	0.617000													6	24					0	0	0.000157383	0	0
ROR2	4920	broad.mit.edu	37	9	94487360	94487360	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:94487360C>T	ENST00000375708.3	-	9	1614	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.A332A	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	472					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAACCTCACCGCAGACAGGC	0.597000													51	117					0	0	0.000781405	0	0
NEK9	91754	broad.mit.edu	37	14	75570664	75570664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:75570664G>A	ENST00000238616.5	-	14	1770	c.1612C>T	c.(1612-1614)Caa>Taa	p.Q538*		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	538					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CAGCCACATTGAACTGCAACA	0.408000													9	24					0	0	0.000442599	0	0
OR5F1	338674	broad.mit.edu	37	11	55761975	55761975	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55761975G>A	ENST00000278409.1	-	1	126	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ATCATCCCGAGATTTCCCAGT	0.428000													9	25					0	0	0.000274275	0	0
THSD4	79875	broad.mit.edu	37	15	71447252	71447252	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:71447252C>T	ENST00000355327.3	+	3	214	c.80C>T	c.(79-81)cCc>cTc	p.P27L	THSD4_ENST00000261862.6_Missense_Mutation_p.P27L|RP11-673C5.2_ENST00000561571.1_RNA			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	27						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCCCACAGCCCTCCACTCAA	0.532000													9	37					0	0	0.000274275	0	0
PRKCH	5583	broad.mit.edu	37	14	62016412	62016412	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:62016412G>A	ENST00000332981.5	+	14	2300	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	RP11-47I22.4_ENST00000556347.1_Intron|PRKCH_ENST00000555082.1_Missense_Mutation_p.E478K|PRKCH_ENST00000556245.1_3'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	639	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GAAATCCCGAGAAGATGTCAG	0.413000													24	48					0	0	0.00178596	0	0
COL25A1	84570	broad.mit.edu	37	4	110223112	110223112	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:110223112G>A	ENST00000399132.1	-	2	594	c.64C>T	c.(64-66)Cct>Tct	p.P22S	COL25A1_ENST00000399127.1_Missense_Mutation_p.P22S|COL25A1_ENST00000399126.1_Missense_Mutation_p.P22S	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	22						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGTTCGGCAGGGGTCGGGTCC	0.682000													12	34					0	0	0.00136819	0	0
ADNP2	22850	broad.mit.edu	37	18	77894726	77894726	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:77894726C>T	ENST00000262198.4	+	4	1885	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	477					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGGGTTCTTCCTACTGGCCAG	0.597000													9	27					0	0	0.000673444	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933934	73933934	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:73933934C>T	ENST00000476977.1	+	6	2492	c.801C>T	c.(799-801)atC>atT	p.I267I	GTF2IRD1_ENST00000424337.2_Silent_p.I267I|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.I299I|GTF2IRD1_ENST00000265755.3_Silent_p.I267I			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	267						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACCACGCCATCCGAGAGCTCA	0.692000													9	24					0	0	0.000274275	0	0
INHBE	83729	broad.mit.edu	37	12	57849480	57849480	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:57849480G>A	ENST00000266646.2	+	1	377	c.161G>A	c.(160-162)gGg>gAg	p.G54E	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	54					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						ATCCTGGATGGGTTGCACCTG	0.622000													4	13					0	0	0.00024832	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656053	40656053	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:40656053A>T	ENST00000406785.1	-	2	1557	c.1368T>A	c.(1366-1368)gaT>gaA	p.D456E	SLC8A1_ENST00000542024.1_Missense_Mutation_p.D456E|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D456E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D456E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D456E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D456E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D456E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D456E|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D456E|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D456E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	456	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAAATTCATAATCAGACCCAG	0.433000													8	18					0	0	0.000274275	0	0
NRG3	10718	broad.mit.edu	37	10	84718705	84718705	+	Splice_Site	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:84718705G>A	ENST00000372142.2	+	7	769	c.494_splice	c.e7-1	p.K165_splice	NRG3_ENST00000537893.1_Splice_Site_p.K36_splice|NRG3_ENST00000545131.1_Splice_Site_p.K36_splice|NRG3_ENST00000556918.1_Splice_Site_p.K216_splice|NRG3_ENST00000372141.2_Splice_Site_p.K386_splice|NRG3_ENST00000404576.2_Splice_Site_p.K190_splice|NRG3_ENST00000404547.1_Splice_Site_p.K386_splice	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	386	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ATGCCTGCAGGAAACAAGCTA	0.388000													9	26					0	0	0.000442599	0	0
KRT8	3856	broad.mit.edu	37	12	53295761	53295761	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:53295761G>A	ENST00000552551.1	-	3	852	c.420C>T	c.(418-420)ttC>ttT	p.F140F	KRT8_ENST00000552150.1_Silent_p.F168F|KRT8_ENST00000546897.1_Silent_p.F140F|KRT8_ENST00000293308.6_Silent_p.F140F			P05787	K2C8_HUMAN	keratin 8	140	Linker 1.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTAGCTCTCGAACATGTTGT	0.572000													12	26					0	0	0.000978159	0	0
OR1J2	26740	broad.mit.edu	37	9	125273977	125273977	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:125273977G>A	ENST00000335302.5	+	1	897	c.897G>A	c.(895-897)gaG>gaA	p.E299E		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACATGAAAGAGGCCCTTGGGA	0.398000													12	48					0	0	0.00136819	0	0
KRT31	3881	broad.mit.edu	37	17	39551128	39551128	+	Missense_Mutation	SNP	G	G	A	rs143943601		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:39551128G>A	ENST00000251645.2	-	6	1121	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	357	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGCAGGCTCCGGTATGTGTTG	0.557000													25	65					0	0	0.000720815	0	0
UBL7	84993	broad.mit.edu	37	15	74742300	74742300	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:74742300G>A	ENST00000567435.1	-	7	1104	c.641C>T	c.(640-642)tCc>tTc	p.S214F	UBL7_ENST00000395081.2_Missense_Mutation_p.S214F|UBL7_ENST00000361351.4_Missense_Mutation_p.S214F|UBL7_ENST00000564488.1_Missense_Mutation_p.S214F|UBL7_ENST00000565335.1_Missense_Mutation_p.S214F			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	214							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTATGAGCTGGAGGGCATGCT	0.592000													6	14					0	0	0.000274275	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482664	76482664	+	Splice_Site	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:76482664G>A	ENST00000307431.8	+	7	1125	c.739_splice	c.e7-1	p.G247_splice	CNTNAP4_ENST00000476707.1_Splice_Site_p.G251_splice|CNTNAP4_ENST00000377504.4_Splice_Site_p.G247_splice|CNTNAP4_ENST00000478060.1_Splice_Site_p.G223_splice|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	248	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCTTCTAAGGTGAAGCTAAA	0.443000													3	6					0	0	6.4e-05	0	0
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr21:11058168A>T	ENST00000470054.1	-	0	479									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388000													4	26					0	0	0.000274275	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926476	157926476	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:157926476C>T	ENST00000389413.3	-	9	1552	c.1449G>A	c.(1447-1449)gaG>gaA	p.E483E	PTPRN2_ENST00000389416.4_Silent_p.E466E|PTPRN2_ENST00000389418.4_Silent_p.E483E|PTPRN2_ENST00000404321.2_Silent_p.E506E|PTPRN2_ENST00000409483.1_Silent_p.E445E	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	483						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCTCTGCTCCTCCTTCGAGG	0.647000													16	23					0	0	0.000566183	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118228729	118228729	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:118228729C>G	ENST00000369230.3	+	9	1106	c.960C>G	c.(958-960)tgC>tgG	p.C320W		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	320					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAGAAGGTTGCCCAACAATGG	0.353000													9	24					0	0	0.000442599	0	0
HRH3	11255	broad.mit.edu	37	20	60794874	60794874	+	Silent	SNP	G	G	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:60794874G>C	ENST00000340177.5	-	1	437	c.153C>G	c.(151-153)ggC>ggG	p.G51G	HRH3_ENST00000317393.6_Silent_p.G51G	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	51					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCAGCGCGTTGCCCAGCACCG	0.706000													4	9					0	0	0.00024832	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793311	65793311	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:65793311G>A	ENST00000312106.5	-	1	677	c.540C>T	c.(538-540)ctC>ctT	p.L180L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	180	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GTCCATGGGGGAGGTAGGACC	0.592000													7	34					0	0	0.000274275	0	0
KRT78	196374	broad.mit.edu	37	12	53238453	53238453	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:53238453C>T	ENST00000359499.4	-	5	492	c.481G>A	c.(481-483)Gac>Aac	p.D161N	KRT78_ENST00000304620.4_Missense_Mutation_p.D271N			Q8N1N4	K2C78_HUMAN	keratin 78	271	Linker 1.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGTTGTTGTCCATGGACAGC	0.622000													5	19					0	0	0.000602214	0	0
KDM7A	80853	broad.mit.edu	37	7	139824437	139824437	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:139824437G>A	ENST00000397560.2	-	7	1132	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	JHDM1D_ENST00000006967.5_Silent_p.T345T	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		345	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GAACAAATAAGGTATGTCCCT	0.413000													11	14					0	0	0.00136819	0	0
COL18A1	80781	broad.mit.edu	37	21	46876034	46876034	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr21:46876034C>T	ENST00000359759.4	+	1	611	c.590C>T	c.(589-591)tCc>tTc	p.S197F	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.S197F			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	197					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCGCCTCCCTCCCTGGGCAGG	0.682000													12	39					0	0	0.00136819	0	0
NPAP1	23742	broad.mit.edu	37	15	24923674	24923674	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:24923674C>T	ENST00000329468.2	+	1	3134	c.2660C>T	c.(2659-2661)tCc>tTc	p.S887F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACCACAACTTCCAGCCATCCT	0.502000													23	73					0	0	0.000375601	0	0
PCDH15	65217	broad.mit.edu	37	10	55581682	55581682	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:55581682C>T	ENST00000361849.3	-	34	6204	c.5810G>A	c.(5809-5811)gGg>gAg	p.G1937E	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1932E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1866E|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1895E|PCDH15_ENST00000373957.3_Missense_Mutation_p.G789E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1912E|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1935E|PCDH15_ENST00000409834.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1935					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTCAAACTCCCCTTGTTTTG	0.353000										HNSCC(58;0.16)			14	49					0	0	0.00185496	0	0
NID1	4811	broad.mit.edu	37	1	236187432	236187432	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:236187432G>A	ENST00000264187.6	-	9	2148	c.2066C>T	c.(2065-2067)cCc>cTc	p.P689L	NID1_ENST00000366595.3_Missense_Mutation_p.P689L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	689	EGF-like 2.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CTGTGTCCTGGGACCAGGGCG	0.567000													12	18					0	0	0.000978159	0	0
ZFP91	80829	broad.mit.edu	37	11	58379782	58379782	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:58379782C>T	ENST00000316059.6	+	7	1060	c.889C>T	c.(889-891)Cca>Tca	p.P297S	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.P297S	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	297					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGACAAAAGTCCACGTTTACC	0.393000													9	11					0	0	0.000978159	0	0
ZNF777	27153	broad.mit.edu	37	7	149128998	149128998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:149128998G>A	ENST00000247930.4	-	6	2688	c.2365C>T	c.(2365-2367)Cag>Tag	p.Q789*		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGATGCTTCTGCGTGAAGCGC	0.667000													9	19					0	0	0.000274275	0	0
OR1L4	254973	broad.mit.edu	37	9	125486790	125486790	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:125486790C>T	ENST00000259466.1	+	1	522	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTCTCACATCATTAAGCACT	0.498000													26	130					0	0	0.00195071	0	0
KCNB2	9312	broad.mit.edu	37	8	73849489	73849489	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:73849489C>T	ENST00000523207.1	+	3	2487	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	633					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGATGAAGTTCCCAACCGACC	0.607000													17	55					0	0	0.00074312	0	0
ARSF	416	broad.mit.edu	37	X	3021865	3021865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:3021865G>A	ENST00000381127.1	+	9	1386	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R	ARSF_ENST00000537104.1_Missense_Mutation_p.G389R|ARSF_ENST00000359361.2_Missense_Mutation_p.G389R	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	389						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)				CCGATGGCCTGGAAAGGTACC	0.478000													25	7					0	0	0.000375601	0	0
SGCZ	137868	broad.mit.edu	37	8	13959988	13959988	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:13959988G>A	ENST00000382080.1	-	7	1356	c.641C>T	c.(640-642)tCc>tTc	p.S214F	SGCZ_ENST00000421524.2_Missense_Mutation_p.S167F	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	201					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CATGATCAAGGATCTGGTGGG	0.413000													8	14					0	0	0.000157383	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907791	164907791	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:164907791C>T	ENST00000475390.1	-	2	1271	c.828G>A	c.(826-828)agG>agA	p.R276R	SLITRK3_ENST00000241274.3_Silent_p.R276R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	276	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTTCTGTCTTCCTGATTTCTC	0.483000										HNSCC(40;0.11)			20	56					0	0	0.000295444	0	0
FAP	2191	broad.mit.edu	37	2	163059452	163059452	+	Splice_Site	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:163059452C>T	ENST00000188790.4	-	14	1360	c.1152_splice	c.e14-1	p.E385_splice	FAP_ENST00000443424.1_Splice_Site_p.E360_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	385					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATAGCATTTTCCTATAAAAAG	0.378000													16	32					0	0	0.000566183	0	0
MYH2	4620	broad.mit.edu	37	17	10428305	10428305	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:10428305C>T	ENST00000245503.5	-	34	5124	c.4740G>A	c.(4738-4740)agG>agA	p.R1580R	MYH2_ENST00000397183.2_Silent_p.R1580R|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1580					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGCAATTTTCCTATCAACCT	0.453000													23	39					0	0	0.00047179	0	0
LRP1B	53353	broad.mit.edu	37	2	141946086	141946086	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:141946086C>T	ENST00000389484.3	-	7	1888	c.917G>A	c.(916-918)cGg>cAg	p.R306Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	306					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R306Q(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACAAAGATCCGGTCACCGAC	0.413000										TSP Lung(27;0.18)			14	18					0	0	0.000219431	0	0
DCC	1630	broad.mit.edu	37	18	51025841	51025841	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:51025841G>A	ENST00000442544.2	+	27	4688	c.4072G>A	c.(4072-4074)Gaa>Aaa	p.E1358K	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.E991K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1358					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGTGCAATAGAACCGAAAGT	0.458000													17	70					0	0	0.000566183	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135483	126135483	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:126135483G>A	ENST00000299308.3	+	7	1891	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G140E	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	628						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CGGGAGCCGGGAATAACCACG	0.562000													5	18					0	0	0.000157383	0	0
HYDIN	54768	broad.mit.edu	37	16	70917898	70917898	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:70917898C>T	ENST00000393567.2	-	59	10054	c.9904G>A	c.(9904-9906)Gat>Aat	p.D3302N		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3302										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCGGAGATATCGATGGCTATA	0.547000													5	31					0	0	0.00116845	0	0
COL13A1	1305	broad.mit.edu	37	10	71690276	71690276	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:71690276G>A	ENST00000356340.3	+	28	2154	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	COL13A1_ENST00000398972.3_Missense_Mutation_p.E540K|COL13A1_ENST00000398978.3_Missense_Mutation_p.E540K|COL13A1_ENST00000398974.3_Missense_Mutation_p.E528K|COL13A1_ENST00000357811.3_Missense_Mutation_p.E518K|COL13A1_ENST00000398966.3_Missense_Mutation_p.E518K|COL13A1_ENST00000398971.3_Missense_Mutation_p.E540K|COL13A1_ENST00000354547.3_Missense_Mutation_p.E518K|COL13A1_ENST00000520133.1_Missense_Mutation_p.E489K|COL13A1_ENST00000398969.3_Missense_Mutation_p.E483K|COL13A1_ENST00000398973.3_Missense_Mutation_p.E540K|COL13A1_ENST00000398968.3_Missense_Mutation_p.E521K|COL13A1_ENST00000398964.3_Missense_Mutation_p.E511K|COL13A1_ENST00000522165.1_Missense_Mutation_p.E521K|COL13A1_ENST00000520267.1_Missense_Mutation_p.E483K|COL13A1_ENST00000517713.1_Missense_Mutation_p.E518K			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	540	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGAGAAGGGGGAAAAAGGGGA	0.632000													5	12					0	0	0.000602214	0	0
NCOA6	23054	broad.mit.edu	37	20	33337511	33337511	+	Silent	SNP	G	G	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:33337511G>C	ENST00000374796.2	-	10	5057	c.2487C>G	c.(2485-2487)gtC>gtG	p.V829V	NCOA6_ENST00000359003.2_Silent_p.V829V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	829	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATGAGGGGGGACCATGTTGG	0.502000													17	66					0	0	0.00074312	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885814	88885814	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:88885814G>A	ENST00000319675.3	-	1	482	c.386C>T	c.(385-387)tCt>tTt	p.S129F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	129								p.S129Y(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCAGCACATAGAATTCACCTT	0.572000													12	26					0	0	0.000308642	0	0
ZNF485	220992	broad.mit.edu	37	10	44111840	44111840	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:44111840G>A	ENST00000361807.3	+	5	543	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	ZNF485_ENST00000374437.2_Missense_Mutation_p.G26S|ZNF485_ENST00000374435.3_Missense_Mutation_p.G117S	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GATGGAAAAAGGCCTGGACTG	0.453000													8	20					0	0	0.000157383	0	0
CTDSPL	10217	broad.mit.edu	37	3	38012933	38012933	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:38012933C>T	ENST00000443503.2	+	5	669	c.429C>T	c.(427-429)ttC>ttT	p.F143F	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Silent_p.F154F	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	154	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TGGACGAGTTCCTCCAGAGGA	0.592000													6	18					0	0	0.00116845	0	0
KSR2	283455	broad.mit.edu	37	12	117962701	117962701	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:117962701G>A	ENST00000425217.1	-	14	2142	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	KSR2_ENST00000302438.5_Silent_p.F422F|KSR2_ENST00000339824.5_Silent_p.F725F|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	725	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCACCCATGAAAAGCACCA	0.577000													6	20					0	0	0.00116845	0	0
DSE	29940	broad.mit.edu	37	6	116752203	116752203	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:116752203G>A	ENST00000331677.3	+	5	1201	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	DSE_ENST00000359564.2_Missense_Mutation_p.G253S|DSE_ENST00000452085.3_Missense_Mutation_p.G253S|DSE_ENST00000537543.1_Missense_Mutation_p.G272S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	253					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGTGACGGATGGCTCCCTCTA	0.463000													20	27					0	0	0.000295444	0	0
ABCA4	24	broad.mit.edu	37	1	94505682	94505682	+	Splice_Site	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:94505682C>T	ENST00000370225.3	-	24	3610	c.3522_splice	c.e24-1	p.G1175_splice		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1175					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGCAGGTCCCCTGCAACAG	0.552000											OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	11					0	0	0.000602214	0	0
LEPREL1	55214	broad.mit.edu	37	3	189689688	189689688	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:189689688C>T	ENST00000319332.5	-	12	2005	c.1808G>A	c.(1807-1809)cGa>cAa	p.R603Q	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R422Q	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	603	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTATAGTCTCGAAATGTGTA	0.443000													5	26					0	0	8.12818e-05	0	0
ANO4	121601	broad.mit.edu	37	12	101333113	101333113	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:101333113C>T	ENST00000392979.3	+	3	437	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.L61F|ANO4_ENST00000538618.1_Missense_Mutation_p.L227F	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	61						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTCAATATTCTTTTTGATGA	0.393000										HNSCC(74;0.22)			21	47					0	0	0.000586117	0	0
NOS1	4842	broad.mit.edu	37	12	117768765	117768765	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:117768765C>T	ENST00000317775.6	-	2	795	c.110G>A	c.(109-111)aGt>aAt	p.S37N	NOS1_ENST00000338101.4_Missense_Mutation_p.S37N|NOS1_ENST00000344089.3_Missense_Mutation_p.S37N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	37	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGCGGCTTACTGACCCGCTC	0.577000													8	30					0	0	0.000673444	0	0
LANCL2	55915	broad.mit.edu	37	7	55468953	55468953	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:55468953C>T	ENST00000254770.2	+	5	1343	c.765C>T	c.(763-765)caC>caT	p.H255H		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	255					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ACCAGTGGCACCGGAAGCAGT	0.438000													15	28					0	0	0.000422831	0	0
HRNR	388697	broad.mit.edu	37	1	152192185	152192185	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:152192185G>A	ENST00000368801.2	-	3	1995	c.1920C>T	c.(1918-1920)ggC>ggT	p.G640G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	640					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGAGCCAGAGCCATGCTGAC	0.572000													52	168					0	0	0.000781405	0	0
XIRP1	165904	broad.mit.edu	37	3	39226150	39226150	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:39226150G>A	ENST00000340369.3	-	2	5015	c.4787C>T	c.(4786-4788)cCc>cTc	p.P1596L	XIRP1_ENST00000421646.1_Missense_Mutation_p.P279L|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1596							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGAGCCACTGGGCCTGGCGCT	0.567000													47	88					0	0	0.000781405	0	0
PALMD	54873	broad.mit.edu	37	1	100154801	100154801	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:100154801C>T	ENST00000263174.4	+	7	1360	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	PALMD_ENST00000605497.1_Missense_Mutation_p.P329S	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	329					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGTGCCTCATCCCCGATCAGT	0.453000													9	17					0	0	0.000442599	0	0
MUSK	4593	broad.mit.edu	37	9	113445027	113445027	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:113445027G>A	ENST00000416899.2	+	2	279	c.153G>A	c.(151-153)gtG>gtA	p.V51V	MUSK_ENST00000189978.5_Silent_p.V51V|MUSK_ENST00000374448.4_Silent_p.V51V|MUSK_ENST00000374440.3_5'UTR			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	51	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGTGTGCAGTGGAATCCTACC	0.378000													18	28					0	0	0.00152264	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656052	40656052	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:40656052A>T	ENST00000406785.1	-	2	1558	c.1369T>A	c.(1369-1371)Tat>Aat	p.Y457N	SLC8A1_ENST00000542024.1_Missense_Mutation_p.Y457N|SLC8A1_ENST00000542756.1_Missense_Mutation_p.Y457N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.Y457N|SLC8A1_ENST00000405269.1_Missense_Mutation_p.Y457N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.Y457N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.Y457N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.Y457N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.Y457N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.Y457N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	457	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTAAATTCATAATCAGACCCA	0.428000													8	19					0	0	0.000274275	0	0
IFIH1	64135	broad.mit.edu	37	2	163136531	163136531	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:163136531A>G	ENST00000263642.2	-	8	2011	c.1616T>C	c.(1615-1617)tTt>tCt	p.F539S		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	539					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGCAATGGCAAACTTCTTGCA	0.343000													12	24					0	0	0.00185496	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995273	140995273	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chrX:140995273C>T	ENST00000285879.4	+	4	2369	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	695							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAAATTCCTCAGAGTCC	0.562000										HNSCC(15;0.026)			21	17					0	0	0.000295444	0	0
FYB	2533	broad.mit.edu	37	5	39202037	39202037	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:39202037C>T	ENST00000351578.6	-	2	1216	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	FYB_ENST00000515010.1_Silent_p.P342P|FYB_ENST00000540520.1_Silent_p.P352P|FYB_ENST00000512982.1_Silent_p.P342P|FYB_ENST00000505428.1_Silent_p.P342P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	342					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTTCTGTTTCGGGGTGGCTG	0.527000													11	26					0	0	0.000978159	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73932550	73932550	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:73932550G>A	ENST00000476977.1	+	5	2194	c.503G>A	c.(502-504)gGg>gAg	p.G168E	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.G168E|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.G200E|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.G168E			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	168						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCGTGCAGGGGCTGCCCGAA	0.667000													5	15					0	0	0.000602214	0	0
C10orf120	399814	broad.mit.edu	37	10	124457593	124457593	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:124457593C>T	ENST00000329446.4	-	3	695	c.664G>A	c.(664-666)Gat>Aat	p.D222N		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	222										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGGTTGGCATCATCACAATTA	0.403000													9	17					0	0	0.000274275	0	0
KIF19	124602	broad.mit.edu	37	17	72340379	72340379	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:72340379C>T	ENST00000389916.4	+	6	612	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	158	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGAGATGATCCGGGACCTGC	0.617000													9	18					0	0	0.000442599	0	0
PAQR3	152559	broad.mit.edu	37	4	79845036	79845036	+	Silent	SNP	G	G	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:79845036G>C	ENST00000512733.1	-	5	981	c.768C>G	c.(766-768)tcC>tcG	p.S256S	PAQR3_ENST00000515541.1_Intron|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000380645.4_Silent_p.S256S	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	256						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CTGGGACTTTGGAAATGTAGA	0.378000													12	45					0	0	0.000308642	0	0
PCDH12	51294	broad.mit.edu	37	5	141335153	141335153	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr5:141335153G>A	ENST00000231484.3	-	1	3474	c.2264C>T	c.(2263-2265)gCc>gTc	p.A755V		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	755					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGACTCGGCCTCCCGACA	0.582000													6	10					0	0	8.12818e-05	0	0
DSC1	1823	broad.mit.edu	37	18	28712616	28712616	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr18:28712616C>T	ENST00000257197.3	-	14	2414	c.2153G>A	c.(2152-2154)aGa>aAa	p.R718K	DSC1_ENST00000257198.5_Missense_Mutation_p.R718K|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	718					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.R718I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTTGACTGTTCTCTTAGCAGT	0.313000													12	22					0	0	0.000978159	0	0
KCND3	3752	broad.mit.edu	37	1	112329604	112329604	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:112329604G>A	ENST00000369697.1	-	2	1300	c.1231C>T	c.(1231-1233)Cac>Tac	p.H411Y	KCND3_ENST00000302127.4_Missense_Mutation_p.H411Y|KCND3_ENST00000315987.2_Missense_Mutation_p.H411Y			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	411						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGATTCTGGTGGTAAATCCGG	0.557000													15	45					0	0	0.000422831	0	0
GABRA5	2558	broad.mit.edu	37	15	27185163	27185163	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:27185163G>A	ENST00000335625.5	+	9	1704	c.816G>A	c.(814-816)gtG>gtA	p.V272V	GABRA5_ENST00000355395.5_Silent_p.V272V|GABRA5_ENST00000400081.3_Silent_p.V272V	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	272					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAATGACCGTGATCTTATCAC	0.493000													11	14					0	0	0.000673444	0	0
GALNT13	114805	broad.mit.edu	37	2	155099341	155099341	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:155099341C>T	ENST00000392825.3	+	6	1176	c.609C>T	c.(607-609)gtC>gtT	p.V203V	GALNT13_ENST00000409237.1_Silent_p.V203V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	203	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGGGCAGGTCATAACTTTTC	0.428000													6	15					0	0	8.12818e-05	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33593574	33593574	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:33593574G>A	ENST00000252015.2	-	16	1949	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	TRPC4AP_ENST00000432634.2_Silent_p.S581S|TRPC4AP_ENST00000539834.1_Silent_p.S222S|TRPC4AP_ENST00000451813.1_Silent_p.S612S			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	620					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGTCCACCAGGGAGCTGTTGA	0.547000													16	44					0	0	0.000566183	0	0
TAP2	6891	broad.mit.edu	37	6	32798515	32798515	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:32798515C>T	ENST00000374897.2	-	8	1472	c.1341G>A	c.(1339-1341)atG>atA	p.M447I	TAP2_ENST00000374899.4_Missense_Mutation_p.M447I|TAP2_ENST00000452392.2_Missense_Mutation_p.M447I	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	447					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GCTGTCGGTCCATGTAGGAGA	0.527000													5	23					0	0	0.000602214	0	0
WDR96	80217	broad.mit.edu	37	10	105953668	105953668	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:105953668G>A	ENST00000357060.3	-	11	1513	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	WDR96_ENST00000278064.2_Silent_p.V397V|WDR96_ENST00000369720.1_Silent_p.V397V|WDR96_ENST00000428666.1_Silent_p.V467V	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	466										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTTGTGCACGACCTGAGGGG	0.567000													10	43					0	0	0.000442599	0	0
SCN3A	6328	broad.mit.edu	37	2	165950892	165950892	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:165950892G>A	ENST00000360093.3	-	26	5019	c.4528C>T	c.(4528-4530)Cgc>Tgc	p.R1510C	SCN3A_ENST00000409101.3_Missense_Mutation_p.R1461C|SCN3A_ENST00000283254.7_Missense_Mutation_p.R1510C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1510						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACTGCTGGGCGAGGTATGGGT	0.393000													65	192					0	0	0.000781405	0	0
OR5D14	219436	broad.mit.edu	37	11	55563919	55563919	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55563919T>G	ENST00000335605.1	+	1	888	c.888T>G	c.(886-888)aaT>aaG	p.N296K		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCCTAAGGAATAAAGACGTGA	0.408000													14	22					0	0	0.000422831	0	0
PTPRD	5789	broad.mit.edu	37	9	8528596	8528596	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:8528596C>T	ENST00000381196.4	-	12	1079	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	PTPRD_ENST00000360074.4_Missense_Mutation_p.R179Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R179Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R179Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R179Q|PTPRD_ENST00000463477.1_Missense_Mutation_p.R179Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R179Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R179Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R179Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R179Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R179Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R179Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	179	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCTACCTGATCGTAACTGCTT	0.328000										TSP Lung(15;0.13)			20	31					0	0	0.000586117	0	0
NOX4	50507	broad.mit.edu	37	11	89182645	89182645	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:89182645G>A	ENST00000535633.1	-	4	550	c.240C>T	c.(238-240)ttC>ttT	p.F80F	NOX4_ENST00000525196.1_Silent_p.F104F|NOX4_ENST00000343727.5_Silent_p.F80F|NOX4_ENST00000527956.1_Silent_p.F80F|NOX4_ENST00000263317.4_Silent_p.F104F|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Silent_p.F104F|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000413594.2_Silent_p.F125F|NOX4_ENST00000424319.1_Silent_p.F80F|NOX4_ENST00000542487.1_Silent_p.F80F|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000532825.1_Silent_p.F80F|NOX4_ENST00000528341.1_Silent_p.F79F	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	104	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGGTAATATGGAATGTTCTGC	0.303000													10	32					0	0	0.000673444	0	0
PLCD3	113026	broad.mit.edu	37	17	43194006	43194006	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:43194006G>A	ENST00000322765.5	-	8	1519	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	469	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CACCTCTGGGGATGGCAGCTC	0.692000													14	24					0	0	0.000422831	0	0
BDNF	627	broad.mit.edu	37	11	27679989	27679989	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:27679989C>T	ENST00000525528.1	-	1	1216	c.123G>A	c.(121-123)ggG>ggA	p.G41G	BDNF_ENST00000314915.6_Silent_p.G49G|BDNF_ENST00000356660.4_Silent_p.G41G|BDNF_ENST00000395978.3_Silent_p.G41G|BDNF_ENST00000395986.2_Silent_p.G56G|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000438929.1_Silent_p.G123G|BDNF_ENST00000439476.2_Silent_p.G41G|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000530861.1_Silent_p.G41G|BDNF_ENST00000395981.3_Silent_p.G41G|BDNF_ENST00000533131.1_Silent_p.G41G|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000418212.1_Silent_p.G41G|BDNF_ENST00000395983.3_Silent_p.G41G|BDNF_ENST00000532997.1_Silent_p.G41G|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Silent_p.G41G|BDNF_ENST00000420794.1_Silent_p.G41G|BDNF_ENST00000533246.1_Silent_p.G41G|BDNF_ENST00000395980.2_Silent_p.G41G|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000530313.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	41						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TCTCCAGAGTCCCATGGGTCC	0.527000													25	59					0	0	0.00127121	0	0
INSRR	3645	broad.mit.edu	37	1	156812890	156812890	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:156812890G>A	ENST00000368195.3	-	17	3428	c.3032C>T	c.(3031-3033)gCc>gTc	p.A1011V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1011	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGTCTTCAGGGCCACGGGTGT	0.557000													15	24					0	0	0.000308642	0	0
MIR154	406946	broad.mit.edu	37	14	101526114	101526114	+	RNA	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:101526114C>T	ENST00000385243.1	+	0	23					NR_029704.1																						GATAGGTTATCCGTGTTGCCT	0.498000													27	74					0	0	0.001512	0	0
MUSK	4593	broad.mit.edu	37	9	113563219	113563219	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:113563219G>A	ENST00000416899.2	+	13	2663	c.2537G>A	c.(2536-2538)cGa>cAa	p.R846Q	MUSK_ENST00000189978.5_Missense_Mutation_p.R854Q|MUSK_ENST00000374448.4_Missense_Mutation_p.R854Q			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	854	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGTATTCACCGAATTCTGGAA	0.507000													6	12					0	0	0.000274275	0	0
SELE	6401	broad.mit.edu	37	1	169698456	169698456	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:169698456G>A	ENST00000333360.7	-	7	1100	c.961C>T	c.(961-963)Cct>Tct	p.P321S	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.P321S|SELE_ENST00000367781.4_Missense_Mutation_p.P321S|SELE_ENST00000367776.1_Missense_Mutation_p.P321S|SELE_ENST00000367775.1_Missense_Mutation_p.P259S|SELE_ENST00000367779.4_Missense_Mutation_p.P321S|SELE_ENST00000367777.1_Missense_Mutation_p.P321S|SELE_ENST00000367774.1_Missense_Mutation_p.P321S|SELE_ENST00000367780.4_Missense_Mutation_p.P259S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	321	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCTCCAGCAGGGGAATGGCTG	0.527000													8	17					0	0	0.000157383	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655193	138655193	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:138655193T>A	ENST00000251691.4	+	33	5376	c.5210T>A	c.(5209-5211)gTc>gAc	p.V1737D		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1737					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAAGAGTTTGTCAAAGGCCCC	0.463000													12	20					0	0	0.00136819	0	0
OR5W2	390148	broad.mit.edu	37	11	55681877	55681877	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:55681877A>T	ENST00000344514.1	-	1	181	c.182T>A	c.(181-183)tTc>tAc	p.F61Y		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACTGAGGAAGAAATACATTGG	0.383000													11	29					0	0	0.000673444	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508414	37508414	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:37508414G>A	ENST00000374660.1	+	40	4062	c.3963G>A	c.(3961-3963)agG>agA	p.R1321R	ANKRD30A_ENST00000602533.1_Silent_p.R1202R|ANKRD30A_ENST00000361713.1_Silent_p.R1202R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTCAAAGGAAATCCAAAA	0.368000													10	19					0	0	0.000442599	0	0
MYH1	4619	broad.mit.edu	37	17	10395819	10395819	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:10395819C>T	ENST00000226207.5	-	40	5828	c.5734G>A	c.(5734-5736)Gaa>Aaa	p.E1912K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1912						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAGCCCGTTCCTCGGCCTCC	0.483000													30	30					0	0	0.00178596	0	0
BRINP1	1620	broad.mit.edu	37	9	121929767	121929767	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:121929767G>A	ENST00000265922.3	-	8	2342	c.1881C>T	c.(1879-1881)acC>acT	p.T627T	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		627					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						TTCGCAGTAGGGTAGGTAGCC	0.532000													27	70					0	0	0.00106085	0	0
TLN2	83660	broad.mit.edu	37	15	63097861	63097861	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:63097861G>A	ENST00000561311.1	+	50	6770	c.6540G>A	c.(6538-6540)acG>acA	p.T2180T	TLN2_ENST00000306829.6_Silent_p.T2180T			Q9Y4G6	TLN2_HUMAN	talin 2	2180					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TAAGGATGACGAAAGGCATCA	0.473000													9	26					0	0	0.000442599	0	0
KCTD8	386617	broad.mit.edu	37	4	44176894	44176894	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr4:44176894C>T	ENST00000360029.3	-	2	1618	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	445						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTTAAAATCCTGAATACACT	0.383000										HNSCC(17;0.042)			25	95					0	0	0.00047179	0	0
TMEFF2	23671	broad.mit.edu	37	2	192818523	192818523	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:192818523C>T	ENST00000392314.1	-	9	1301	c.910G>A	c.(910-912)Gac>Aac	p.D304N	AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.D304N|AC098617.1_ENST00000428980.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	304	Required for shedding.					extracellular region|integral to membrane		p.D304H(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACACTGTAGTCCTTTTTTTCA	0.403000													12	31					0	0	0.000978159	0	0
TAP2	6891	broad.mit.edu	37	6	32798514	32798514	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:32798514C>T	ENST00000374897.2	-	8	1473	c.1342G>A	c.(1342-1344)Gac>Aac	p.D448N	TAP2_ENST00000374899.4_Missense_Mutation_p.D448N|TAP2_ENST00000452392.2_Missense_Mutation_p.D448N	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	448					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GGCTGTCGGTCCATGTAGGAG	0.532000													5	22					0	0	0.000602214	0	0
OR4N2	390429	broad.mit.edu	37	14	20295871	20295871	+	Silent	SNP	G	G	A	rs144051874	byFrequency	TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr14:20295871G>A	ENST00000315947.1	+	1	264	c.264G>A	c.(262-264)gcG>gcA	p.A88A	OR4N2_ENST00000568211.1_Silent_p.A88A	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTCTCTGCGAAGAAGATAA	0.517000													33	69					0	0	0.000491102	0	0
IKZF1	10320	broad.mit.edu	37	7	50455128	50455128	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:50455128C>T	ENST00000331340.3	+	6	830	c.675C>T	c.(673-675)aaC>aaT	p.N225N	IKZF1_ENST00000343574.5_Silent_p.N138N|IKZF1_ENST00000438033.1_Silent_p.N138N|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	225					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCTGCCACAACTACTTGGAAA	0.547000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	9					0	0	0.000157383	0	0
CAMKK2	10645	broad.mit.edu	37	12	121712086	121712086	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr12:121712086G>A	ENST00000324774.5	-	2	1072	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	CAMKK2_ENST00000404169.3_Missense_Mutation_p.P82S|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P82S|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P82S|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P82S|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P82S|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P82S|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P82S|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P82S|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P82S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	82					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGTCAAGGGGGACCTCTTGG	0.697000													51	124					0	0	0.000781405	0	0
ABCA12	26154	broad.mit.edu	37	2	215809796	215809796	+	Silent	SNP	C	C	T	rs150309991		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:215809796C>T	ENST00000272895.7	-	49	7491	c.7272G>A	c.(7270-7272)tcG>tcA	p.S2424S	ABCA12_ENST00000389661.4_Silent_p.S2106S|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2424	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.S2424S(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGTGCCGTTTCGACTTCGGAT	0.363000													8	26					0	0	0.000442599	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42819858	42819858	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr6:42819858C>T	ENST00000314073.5	+	7	2044	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S623F					GLTSCR1-like																		AATCAGACTTCCCCCATTTCT	0.438000													10	30					0	0	0.000673444	0	0
COL20A1	57642	broad.mit.edu	37	20	61957051	61957051	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr20:61957051G>A	ENST00000422202.1	+	28	3469	c.3401G>A	c.(3400-3402)aGa>aAa	p.R1134K	COL20A1_ENST00000358894.6_Missense_Mutation_p.R1127K|COL20A1_ENST00000435874.1_Missense_Mutation_p.R1134K|COL20A1_ENST00000326996.6_Missense_Mutation_p.R1159K			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1127	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ATCCCCGGGAGAGTTGGCCTC	0.697000													7	15					0	0	0.000274275	0	0
MGAM	8972	broad.mit.edu	37	7	141776030	141776030	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:141776030T>C	ENST00000475668.2	+	46	5357	c.5303T>C	c.(5302-5304)tTa>tCa	p.L1768S	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1768	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTATATCTTTTATGTGAGTTT	0.418000													33	61					0	0	0.00148497	0	0
TMEM169	92691	broad.mit.edu	37	2	216965155	216965155	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr2:216965155C>T	ENST00000454545.1	+	4	1110	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	TMEM169_ENST00000437356.2_Silent_p.L262L|TMEM169_ENST00000406027.2_Silent_p.L262L|TMEM169_ENST00000295658.4_Silent_p.L262L	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	262						integral to membrane		p.L262L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGCTGGGTCTGGAGGACTG	0.557000													21	66					0	0	0.000295444	0	0
FCRL5	83416	broad.mit.edu	37	1	157494225	157494225	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:157494225G>A	ENST00000361835.3	-	10	2240	c.2083C>T	c.(2083-2085)Cat>Tat	p.H695Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.H695Y|FCRL5_ENST00000368191.3_Missense_Mutation_p.H610Y|FCRL5_ENST00000368190.3_Missense_Mutation_p.H695Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	695	Ig-like C2-type 7.					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)				ACATCTTCATGATAAAACCAG	0.572000													11	31					0	0	0.00136819	0	0
WNK4	65266	broad.mit.edu	37	17	40932965	40932965	+	Silent	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr17:40932965C>T	ENST00000246914.5	+	1	270	c.249C>T	c.(247-249)ccC>ccT	p.P83P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	83					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCCGGACCCCCCCGATCCTC	0.711000													6	16					0	0	0.00116845	0	0
CACNA1B	774	broad.mit.edu	37	9	141016151	141016151	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:141016151G>A	ENST00000277551.2	+	47	6678	c.6533G>A	c.(6532-6534)aGa>aAa	p.R2178K	CACNA1B_ENST00000371355.4_Silent_p.Q2241Q|CACNA1B_ENST00000371357.1_Silent_p.Q2239Q|CACNA1B_ENST00000371363.1_Silent_p.Q2238Q|CACNA1B_ENST00000371372.1_Silent_p.Q2240Q|CACNA1B_ENST00000277549.5_Silent_p.Q1434Q			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2179					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCTGCTGCAGAGAGACCCCC	0.672000													9	36					0	0	0.00136819	0	0
TIE1	7075	broad.mit.edu	37	1	43772651	43772651	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr1:43772651C>T	ENST00000372476.3	+	4	704	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	TIE1_ENST00000538015.1_Missense_Mutation_p.R209W|TIE1_ENST00000441333.2_Missense_Mutation_p.R209W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	209					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCCTTCTTTCGGCTCATCGT	0.647000													9	34					0	0	0.000673444	0	0
MUC5B	727897	broad.mit.edu	37	11	1270670	1270670	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:1270670T>C	ENST00000447027.1	+	31	12627	c.12569T>C	c.(12568-12570)tTg>tCg	p.L4190S	MUC5B_ENST00000529681.1_Missense_Mutation_p.L4187S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4187	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGGGGGAGTTGGGCCAGGTC	0.637000													19	60					0	0	0.00121646	0	0
ASTN2	23245	broad.mit.edu	37	9	119625945	119625945	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:119625945G>A	ENST00000313400.4	-	11	2057	c.1957C>T	c.(1957-1959)Cgt>Tgt	p.R653C	ASTN2_ENST00000373996.3_Missense_Mutation_p.R649C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R602C			O75129	ASTN2_HUMAN	astrotactin 2	653	EGF-like 2.					integral to membrane		p.R602C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAGCAGTCACGAACTGGCCCG	0.542000													10	20					0	0	0.000442599	0	0
RBM48	84060	broad.mit.edu	37	7	92163784	92163784	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr7:92163784C>T	ENST00000481551.1	+	4	558	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	RBM48_ENST00000265732.5_Missense_Mutation_p.H173Y			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	173							nucleotide binding										ACAAGACTTCCACTCAGAGAT	0.358000													10	22					0	0	0.000442599	0	0
SARDH	1757	broad.mit.edu	37	9	136536688	136536688	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:136536688G>A	ENST00000371872.4	-	18	2552	c.2295C>T	c.(2293-2295)taC>taT	p.Y765Y	SARDH_ENST00000422262.2_Silent_p.Y597Y|SARDH_ENST00000371868.1_Silent_p.Y193Y|SARDH_ENST00000439388.1_Silent_p.Y765Y	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	765					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGATGGCGCGGTACCCTGCGT	0.672000													4	8					0	0	0.000602214	0	0
RIMS2	9699	broad.mit.edu	37	8	105160846	105160846	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr8:105160846C>T	ENST00000436393.2	+	23	3399	c.3158C>T	c.(3157-3159)tCc>tTc	p.S1053F	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	485					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCTTTACATCCAAAATGCAA	0.393000										HNSCC(12;0.0054)			4	10					0	0	0.00024832	0	0
FREM1	158326	broad.mit.edu	37	9	14851345	14851345	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:14851345G>A	ENST00000380881.4	-	7	1907	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	FREM1_ENST00000422223.2_Silent_p.L363L|FREM1_ENST00000380880.3_Silent_p.L363L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	363					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCATGTCACTGAGATCTTTCC	0.493000													12	20					0	0	0.00185496	0	0
PDZD8	118987	broad.mit.edu	37	10	119044942	119044942	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr10:119044942G>A	ENST00000334464.5	-	5	1541	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	434	PDZ.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CAGCCTGCTTGATAAGCTTCA	0.398000													12	26					0	0	0.00185496	0	0
ROBO1	6091	broad.mit.edu	37	3	78663874	78663874	+	Silent	SNP	G	G	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr3:78663874G>A	ENST00000436010.2	-	26	5239	c.4242C>T	c.(4240-4242)gcC>gcT	p.A1414A	ROBO1_ENST00000467549.1_Silent_p.A1353A|ROBO1_ENST00000464233.1_Silent_p.A1453A|ROBO1_ENST00000495273.1_Silent_p.A1408A			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1453					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.A1430A(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGCATTACGGCGGCACTCA	0.488000													6	15					0	0	8.12818e-05	0	0
COL27A1	85301	broad.mit.edu	37	9	117052502	117052502	+	Splice_Site	DEL	A	A	-			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr9:117052502delA	ENST00000356083.3	+	47	4651		c.e47-1			NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1						cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGTACCCCCCAGGGCCTGCAG	0.687													2	4	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89407165	89407165	+	RNA	DEL	T	T	-	rs112016970		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr11:89407165delT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CATCAATGACTTTTTTTTTTT	0.303													4	7	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23333801	23333802	+	RNA	INS	-	-	A			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr15:23333801_23333802insA	ENST00000560464.1	-	0	908																											ACTTACAGTTCAAAAAAAAAAA	0.441													2	4	---	---	---	---					
POLR3E	55718	broad.mit.edu	37	16	22335828	22335835	+	Frame_Shift_Del	DEL	GCGCCGAG	GCGCCGAG	-	rs141897679		TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr16:22335828_22335835delGCGCCGAG	ENST00000299853.5	+	16	1300_1307	c.1133_1140delGCGCCGAG	c.(1132-1140)tfs	p.CAE378fs	POLR3E_ENST00000418581.2_Frame_Shift_Del_p.CAE342fs|POLR3E_ENST00000564209.1_Frame_Shift_Del_p.CAE378fs|POLR3E_ENST00000359210.4_Frame_Shift_Del_p.CAE378fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	378					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CTCCAGCTCTGCGCCGAGGATGTGAAGG	0.606													15	69	---	---	---	---					
ATF5	22809	broad.mit.edu	37	19	50434266	50434266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A195-06A-11D-A196-08	TCGA-ER-A195-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f052e039-d613-4cc1-8579-54e6e4572fa4	673c4ef5-9d73-4870-823e-85ef1045b823	g.chr19:50434266delG	ENST00000423777.2	+	2	536	c.159delG	c.(157-159)gtfs	p.V53fs	ATF5_ENST00000600336.1_Frame_Shift_Del_p.V53fs|ATF5_ENST00000595125.1_Frame_Shift_Del_p.V53fs|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	53					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GGCTTCCAGTGGGGGGAGAGC	0.647													2	4	---	---	---	---