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
IL1RAPL2	26280	broad.mit.edu	37	X	104440227	104440227	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:104440227G>A	ENST00000372582.1	+	3	909	c.153G>A	c.(151-153)gtG>gtA	p.V51V	IL1RAPL2_ENST00000344799.4_Silent_p.V51V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	51	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGTCCGAGTGAAATGTGCCC	0.448000													38	74					0	0	0.000191422	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:82582174G>A	ENST00000423517.2	-	5	8432	c.8095C>T	c.(8095-8097)Cct>Tct	p.P2699S	PCLO_ENST00000333891.8_Missense_Mutation_p.P2699S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2630					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						GGCTCTGGAGGAATTGTTATG	0.403000													15	21					0	0	0.000308642	0	0
RAB27B	5874	broad.mit.edu	37	18	52556557	52556557	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr18:52556557G>A	ENST00000262094.5	+	6	1091	c.570G>A	c.(568-570)gaG>gaA	p.E190E	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	190					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AGTGTGTGGAGAAGACACAAA	0.413000													11	14					0	0	0.00010058	0	0
PSG8	440533	broad.mit.edu	37	19	43259372	43259372	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:43259372C>T	ENST00000404209.4	-	4	852	c.756G>A	c.(754-756)agG>agA	p.R252R	PSG8_ENST00000406636.3_Silent_p.R130R|PSG8_ENST00000401467.2_Silent_p.R159R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Silent_p.R252R	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	252	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCTTATTCTCCCTGGGTTTTA	0.488000													11	163					0	0	6.40141e-05	0	0
SGCG	6445	broad.mit.edu	37	13	23853509	23853509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr13:23853509G>A	ENST00000218867.3	+	5	521	c.397G>A	c.(397-399)Gta>Ata	p.V133I	SGCG_ENST00000537476.1_Missense_Mutation_p.V133I|SGCG_ENST00000545013.1_Missense_Mutation_p.V133I	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	133					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TCCCAAAATGGTAGAAGTCCA	0.388000													19	28					0	0	9.7654e-05	0	0
ZFP36L1	677	broad.mit.edu	37	14	69259613	69259613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr14:69259613C>T	ENST00000439696.2	-	1	344	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.E15K	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	15					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CATAAAACTTCGCTCAAGTCG	0.532000													70	47					0	0	0.000147903	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887610	12887610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:12887610C>T	ENST00000535591.1	-	3	442	c.247G>A	c.(247-249)Ggg>Agg	p.G83R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	83										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGGAAGCACCCATGGGCCATA	0.483000													57	615					0	0	0.000147903	0	0
IVL	3713	broad.mit.edu	37	1	152883848	152883848	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:152883848G>A	ENST00000368764.3	+	2	1639	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q	IVL_ENST00000392667.2_Silent_p.Q379Q			P07476	INVO_HUMAN	involucrin	525	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			atctggagcagcaggaggggc	0.597000													4	9					0	0	0.00024832	0	0
ETV6	2120	broad.mit.edu	37	12	12022474	12022474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:12022474C>T	ENST00000396373.4	+	5	854	c.580C>T	c.(580-582)Cct>Tct	p.P194S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	194						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCGGCCTTCTCCTGACCCCGA	0.637000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								53	172					0	0	0.000147903	0	0
SNHG24	101929369	broad.mit.edu	37	14	101436214	101436214	+	RNA	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr14:101436214C>T	ENST00000554693.2	+	0	299																											GAGGGCTGATCCTGGACCAGT	0.348000													9	4					0	0	6.40141e-05	0	0
OR52E2	119678	broad.mit.edu	37	11	5079889	5079889	+	Silent	SNP	C	C	T	rs148031312		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:5079889C>T	ENST00000321522.2	-	1	968	c.969G>A	c.(967-969)acG>acA	p.T323T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCAGAACCTCGTATGTATTA	0.318000													26	20					0	0	0.000227799	0	0
PARD3B	117583	broad.mit.edu	37	2	206166306	206166306	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:206166306G>A	ENST00000406610.2	+	18	2718	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	PARD3B_ENST00000351153.1_Silent_p.T768T|PARD3B_ENST00000358768.2_Silent_p.T775T|PARD3B_ENST00000349953.3_Silent_p.T837T|PARD3B_ENST00000462231.1_Silent_p.T837T	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	837	Lys-rich.				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)		TCAAAAAAACgaaagagaagg	0.433000													30	48					0	0	0.000227799	0	0
RAB40B	10966	broad.mit.edu	37	17	80616413	80616413	+	Missense_Mutation	SNP	G	G	A	rs142445256	byFrequency	TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:80616413G>A	ENST00000538809.2	-	5	433	c.368C>T	c.(367-369)tCg>tTg	p.S123L	RAB40B_ENST00000571995.1_Silent_p.I173I|RAB40B_ENST00000269347.6_5'UTR			Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCAGCAGCACGATCCTGGCCA	0.657000													36	24					0	0	0.000589545	0	0
PLK2	10769	broad.mit.edu	37	5	57751514	57751514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:57751514G>A	ENST00000274289.3	-	11	1777	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	493					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TGCTCTTTGGGAATGCAATCA	0.498000													6	18					0	0	8.12818e-05	0	0
CORIN	10699	broad.mit.edu	37	4	47788900	47788900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:47788900G>A	ENST00000273857.4	-	3	250	c.251C>T	c.(250-252)cCt>cTt	p.P84L	CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000505909.1_Missense_Mutation_p.P84L|CORIN_ENST00000504584.1_Missense_Mutation_p.P84L|CORIN_ENST00000502252.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	84					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGTGACCAAAGGTTCACTCCC	0.363000													13	35					0	0	0.000151284	0	0
CDH10	1008	broad.mit.edu	37	5	24491716	24491716	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:24491716G>A	ENST00000264463.4	-	11	2352	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	615					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGAGGATGGCGATCAAGGCCC	0.493000										HNSCC(23;0.051)			28	63					0	0	0.000339439	0	0
PSG8	440533	broad.mit.edu	37	19	43258539	43258539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:43258539G>A	ENST00000404209.4	-	5	1285	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG8_ENST00000406636.3_Missense_Mutation_p.R275C|PSG8_ENST00000401467.2_Missense_Mutation_p.R304C|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.R397C	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	397	Ig-like C2-type 3.					extracellular region		p.R397C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCTGAGTTACGAACAGAGCAA	0.448000													11	150					0	0	3.86212e-05	0	0
RMND1	55005	broad.mit.edu	37	6	151766442	151766442	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:151766442C>T	ENST00000367303.4	-	2	627		c.e2+1		RMND1_ENST00000491268.1_Splice_Site	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CCCTACTTTACCTCGTTCACA	0.517000													13	14					0	0	0.000308642	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453110	25453110	+	RNA	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:25453110C>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CAGCCAGGTCCCCAGCTCCTG	0.602000													8	8					0	0	0.000157383	0	0
SPAG16	79582	broad.mit.edu	37	2	215274924	215274924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:215274924G>A	ENST00000331683.5	+	16	1876	c.1781G>A	c.(1780-1782)gGg>gAg	p.G594E	AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Missense_Mutation_p.G500E|AC107218.3_ENST00000437883.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	594					cilium assembly	cilium axoneme|flagellar axoneme		p.G594V(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTTAAATCTGGGGAGATTCAC	0.478000													37	66					0	0	0.000270559	0	0
CHMP4B	128866	broad.mit.edu	37	20	32436417	32436417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr20:32436417C>T	ENST00000217402.2	+	2	500	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	112					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						ATGGGCTATGCCGCCAAGGCC	0.612000													13	35					0	0	0.000219431	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435740	7435740	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:7435740C>T	ENST00000319098.4	-	1	960	c.867G>A	c.(865-867)aaG>aaA	p.K289K	SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	289					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TCACACCGGCCTTCATCTGCA	0.597000													20	28					0	0	9.7654e-05	0	0
TRIOBP	11078	broad.mit.edu	37	22	38154108	38154108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr22:38154108G>A	ENST00000406386.3	+	16	6431	c.6176G>A	c.(6175-6177)gGg>gAg	p.G2059E	TRIOBP_ENST00000407319.2_Missense_Mutation_p.G346E|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.G346E	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2059					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGCGCCGAGGGCCCCCAAGT	0.662000													12	10					0	0	7.07596e-05	0	0
GLUD2	2747	broad.mit.edu	37	X	120182675	120182675	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:120182675G>A	ENST00000328078.1	+	1	1214	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	379					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTGACATACTGATCCCAGCTG	0.507000													83	142					0	0	0.000147903	0	0
CAMK4	814	broad.mit.edu	37	5	110820041	110820041	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:110820041G>A	ENST00000282356.4	+	11	1697	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	CAMK4_ENST00000512453.1_Silent_p.E433E|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	433					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGAACTAGAGGAGGGCCTAG	0.527000													16	15					0	0	0.000308642	0	0
CCR3	1232	broad.mit.edu	37	3	46306838	46306838	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:46306838G>A	ENST00000357422.2	+	4	732	c.189G>A	c.(187-189)agG>agA	p.R63R	CCR3_ENST00000395940.2_Silent_p.R63R|CCR3_ENST00000545097.1_Silent_p.R84R|CCR3_ENST00000395942.2_Silent_p.R63R|CCR3_ENST00000541018.1_Silent_p.R63R			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	63					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TAAAATACAGGAGGCTCCGAA	0.547000													26	47					0	0	9.22233e-05	0	0
BRAT1	221927	broad.mit.edu	37	7	2587019	2587019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:2587019G>A	ENST00000340611.4	-	3	477	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	74					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CAGTGAGAAGGAGAGGACCCC	0.617000													14	19					0	0	0.000151284	0	0
TYSND1	219743	broad.mit.edu	37	10	71905214	71905214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr10:71905214C>T	ENST00000287078.6	-	1	1128	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	TYSND1_ENST00000335494.5_Missense_Mutation_p.E377K	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	377	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CTGGCTGCTTCCCGAGGGGAC	0.667000													7	4					0	0	0.000157383	0	0
ERBB4	2066	broad.mit.edu	37	2	212289026	212289026	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:212289026C>T	ENST00000342788.4	-	23	3030	c.2719_splice	c.e23-1	p.G907_splice	ERBB4_ENST00000402597.1_Splice_Site_p.G897_splice|ERBB4_ENST00000436443.1_Splice_Site_p.G907_splice	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	907	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TATAGTAACTCCTATATTGGA	0.363000										TSP Lung(8;0.080)			5	16					0	0	1.23904e-05	0	0
KRT36	8689	broad.mit.edu	37	17	39643210	39643210	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:39643210C>T	ENST00000393986.2	-	7	1262	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	KRT36_ENST00000328119.6_Silent_p.E400E			O76013	KRT36_HUMAN	keratin 36	400	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACTTGCAGTCCTCTCCCTCCA	0.627000													13	14					0	0	0.00010058	0	0
WDR75	84128	broad.mit.edu	37	2	190338913	190338913	+	Splice_Site	SNP	T	T	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:190338913T>A	ENST00000314761.4	+	19	2111	c.2049_splice	c.e19-1	p.L684_splice		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	684						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCCTTAAAGCTGCTAGCAGAA	0.348000													44	92					0	0	0.000147903	0	0
STPG2	285555	broad.mit.edu	37	4	98762046	98762046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:98762046G>A	ENST00000295268.3	-	9	1171	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		CATCTCATATGATTTGTGAAC	0.358000													35	34					0	0	0.000191422	0	0
TLN1	7094	broad.mit.edu	37	9	35717705	35717705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr9:35717705G>A	ENST00000314888.9	-	18	2427	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	TLN1_ENST00000540444.1_Missense_Mutation_p.R692W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	692					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTCTGTCCGCTGGGCCACA	0.562000													35	26					0	0	0.000437636	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769424	13769424	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:13769424C>T	ENST00000279593.3	-	5	1502	c.1293G>A	c.(1291-1293)agG>agA	p.R431R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	431					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R431S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGACTGTGTTCCTCATGCAGG	0.517000													18	62					0	0	9.7654e-05	0	0
FLNB	2317	broad.mit.edu	37	3	58084469	58084469	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:58084469G>A	ENST00000357272.4	+	8	1344	c.1179G>A	c.(1177-1179)gtG>gtA	p.V393V	FLNB_ENST00000419752.2_Silent_p.V224V|FLNB_ENST00000295956.4_Silent_p.V393V|FLNB_ENST00000429972.2_Silent_p.V393V|FLNB_ENST00000348383.5_Silent_p.V393V|FLNB_ENST00000490882.1_Silent_p.V393V|FLNB_ENST00000358537.3_Silent_p.V393V|FLNB_ENST00000493452.1_Silent_p.V224V			O75369	FLNB_HUMAN	filamin B, beta	393					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGTGGAGGTGGAAGATCCCC	0.537000													20	39					0	0	0.000175454	0	0
TMEM95	339168	broad.mit.edu	37	17	7259218	7259218	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:7259218C>T	ENST00000389982.4	+	3	370	c.288C>T	c.(286-288)ctC>ctT	p.L96L	TMEM95_ENST00000330767.4_Silent_p.L96L|TMEM95_ENST00000576060.1_Silent_p.L96L			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	96						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				AGACCAAGCTCCCTGAGTACA	0.557000											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	19					0	0	0.000229342	0	0
OR5H1	26341	broad.mit.edu	37	3	97851871	97851871	+	Silent	SNP	G	G	A	rs113686881		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:97851871G>A	ENST00000354565.2	+	1	330	c.330G>A	c.(328-330)acG>acA	p.T110T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTGTAACCACGGAATGTTTTC	0.408000													66	98					0	0	0.000147903	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119117	9119117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:9119117C>T	ENST00000382496.5	-	15	2583	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	640	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TACCTTTCCTCGCGGTTCTGT	0.652000													12	32					0	0	0.000422831	0	0
OR2M2	391194	broad.mit.edu	37	1	248344204	248344204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:248344204G>A	ENST00000359682.2	+	1	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G306V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAGATCTTAGGAAAGGGCAAG	0.398000													57	87					0	0	0.000147903	0	0
WDR82	80335	broad.mit.edu	37	3	52293245	52293245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:52293245G>A	ENST00000296490.3	-	7	1018	c.737C>T	c.(736-738)tCa>tTa	p.S246L		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	246					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGGAGTAAATGAAGCCTCCAG	0.378000													34	66					0	0	0.000374591	0	0
BAI1	575	broad.mit.edu	37	8	143562671	143562671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:143562671C>T	ENST00000517894.1	+	10	2779	c.1885C>T	c.(1885-1887)Ccc>Tcc	p.P629S	BAI1_ENST00000323289.5_Missense_Mutation_p.P629S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	629					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTGGGAGCCCCCCACCTACAT	0.622000													18	52					0	0	0.00047179	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350470	51350470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:51350470G>A	ENST00000327536.5	-	3	586	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	163										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ATGATCTTGTGGGCTTCCTTC	0.453000													77	156					0	0	0.000147903	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636194	74636194	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:74636194G>A	ENST00000358632.4	-	4	986	c.291C>T	c.(289-291)ttC>ttT	p.F97F	CYP11A1_ENST00000268053.6_Silent_p.F255F|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Silent_p.F97F	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	255					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGAACAGACGGAACAGGTCTG	0.562000													42	104					0	0	0.000147903	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617696	54617696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:54617696G>A	ENST00000302287.3	+	4	873	c.467G>A	c.(466-468)aGa>aAa	p.R156K	VSTM2A_ENST00000402026.2_Missense_Mutation_p.R155K|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R156K|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R156K|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R156K			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	156						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CATGCCCGCAGAATGCAGGCC	0.582000													6	5					0	0	3.59834e-05	0	0
DGKB	1607	broad.mit.edu	37	7	14613968	14613968	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:14613968G>A	ENST00000403951.2	-	20	2061	c.1642C>T	c.(1642-1644)Cta>Tta	p.L548L	DGKB_ENST00000402815.1_Silent_p.L547L|DGKB_ENST00000444700.2_Silent_p.L529L|DGKB_ENST00000399322.3_Silent_p.L548L|DGKB_ENST00000258767.5_Silent_p.L548L|DGKB_ENST00000407950.1_Silent_p.L540L|DGKB_ENST00000406247.3_Silent_p.L548L|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	548	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATGTCTTTTAGAATTTTCATC	0.353000													59	94					0	0	0.000147903	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188953	32188953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:32188953C>T	ENST00000375023.3	-	4	739	c.601G>A	c.(601-603)Gac>Aac	p.D201N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	201	EGF-like 5; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTCCTGGGTCCTGGAAGCAC	0.642000													137	223					0	0	0.000147903	0	0
CNGB3	54714	broad.mit.edu	37	8	87679279	87679279	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:87679279G>A	ENST00000320005.5	-	6	773	c.726C>T	c.(724-726)ttC>ttT	p.F242F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	242					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTGATATGGGAAGACGAGGC	0.443000													35	45					0	0	0.000159656	0	0
ARPC3	10094	broad.mit.edu	37	12	110883266	110883266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:110883266G>A	ENST00000228825.7	-	2	243	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	ARPC3_ENST00000471641.1_5'UTR|RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	33					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			lung(1)|ovary(1)	2						CTCTCTCTGGGGGCAGGTCCT	0.403000													31	24					0	0	0.000409698	0	0
CASS4	57091	broad.mit.edu	37	20	55012536	55012536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr20:55012536G>A	ENST00000371336.3	+	2	554	c.353G>A	c.(352-354)aGt>aAt	p.S118N	CASS4_ENST00000360314.3_Missense_Mutation_p.S118N|CASS4_ENST00000434344.1_Missense_Mutation_p.S118N	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	118					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAGATGAGGAGTTGGGCGGAG	0.597000													28	51					0	0	0.000339439	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279728	47279728	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:47279728C>T	ENST00000271153.4	+	6	801	c.765C>T	c.(763-765)gaC>gaT	p.D255D	CYP4B1_ENST00000452782.2_Silent_p.D93D|CYP4B1_ENST00000371919.4_Silent_p.D241D|CYP4B1_ENST00000371923.4_Silent_p.D256D			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	255					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGGCCCATGACCATACAGGTG	0.612000													21	126					0	0	0.000375601	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22349669	22349669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:22349669C>T	ENST00000405243.1	-	4	513	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	RAPGEF5_ENST00000344041.6_5'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GGACAGTGTTCTAGAAGCCAG	0.448000													14	32					0	0	0.000308642	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		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.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			132	89					0	0	0.000147903	0	0
MUC16	94025	broad.mit.edu	37	19	9017365	9017365	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:9017365C>T	ENST00000397910.4	-	26	38162	c.37959G>A	c.(37957-37959)agG>agA	p.R12653R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12655	SEA 4.				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						AGAGACTGTTCCTGTCCAGGG	0.567000													55	79					0	0	0.000147903	0	0
SLC22A14	9389	broad.mit.edu	37	3	38350536	38350536	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:38350536C>T	ENST00000273173.4	+	4	958	c.867C>T	c.(865-867)atC>atT	p.I289I	SLC22A14_ENST00000448498.1_Silent_p.I289I	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	289						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGACAGGGATCGCCTACAGTC	0.567000													29	106					0	0	0.000279167	0	0
SATB2	23314	broad.mit.edu	37	2	200136952	200136952	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:200136952G>A	ENST00000443023.1	-	10	3472	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A	SATB2_ENST00000417098.1_Silent_p.A728A|SATB2_ENST00000457245.1_Silent_p.A728A|SATB2_ENST00000260926.5_Silent_p.A728A|SATB2_ENST00000428695.1_Silent_p.A610A			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	728						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTCAATTTCGGCAGGTGCTG	0.443000													56	86					0	0	0.000147903	0	0
TPTE	7179	broad.mit.edu	37	21	10973727	10973727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr21:10973727C>T	ENST00000298232.7	-	4	374	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TPTE_ENST00000342420.5_Missense_Mutation_p.E3K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E3K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	3					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTCACCTTTCATTCATACGT	0.373000													17	108					0	0	0.000375601	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739366	15739366	+	RNA	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:15739366C>T	ENST00000441682.2	+	0	1336							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCAACATCTTCGCAATCCATC	0.627000													8	152					0	0	6.40141e-05	0	0
RELN	5649	broad.mit.edu	37	7	103322669	103322669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:103322669C>T	ENST00000424685.2	-	11	1342	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	RELN_ENST00000343529.5_Missense_Mutation_p.G395R|RELN_ENST00000428762.1_Missense_Mutation_p.G395R			P78509	RELN_HUMAN	reelin	395					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTCATTTCCATGGAAATAA	0.453000													44	84					0	0	0.000147903	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123728	47123728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:47123728C>T	ENST00000290341.3	+	14	1968	c.1634C>T	c.(1633-1635)gCc>gTc	p.A545V	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A406V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	545	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CATTTCTATGCCAGTCAGGTA	0.522000													7	15					0	0	0.000157383	0	0
TMEM177	80775	broad.mit.edu	37	2	120438600	120438600	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:120438600C>T	ENST00000424086.1	+	2	644	c.171C>T	c.(169-171)ctC>ctT	p.L57L	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Silent_p.L57L|TMEM177_ENST00000409951.1_Silent_p.L57L|TMEM177_ENST00000401466.1_Silent_p.L57L	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	57						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGCTCCGCTCCCTCCACAGC	0.582000													45	97					0	0	0.000125731	0	0
MIOX	55586	broad.mit.edu	37	22	50926695	50926695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr22:50926695C>T	ENST00000395733.3	+	5	478	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	MIOX_ENST00000216075.6_Intron|MIOX_ENST00000395732.3_Intron			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	0					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTCCATCCCCCTCCCAGAC	0.662000													11	15					0	0	0.000151284	0	0
PSG7	5676	broad.mit.edu	37	19	43433850	43433850	+	RNA	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:43433850G>A	ENST00000406070.2	-	0	549				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGCTGCTGGAGATGGAGGGTT	0.517000													59	37					0	0	0.000147903	0	0
EXPH5	23086	broad.mit.edu	37	11	108381788	108381788	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:108381788C>T	ENST00000265843.4	-	6	4556	c.4446G>A	c.(4444-4446)agG>agA	p.R1482R	EXPH5_ENST00000428840.1_Silent_p.R1406R|EXPH5_ENST00000443411.1_Silent_p.R1294R|EXPH5_ENST00000525344.1_Silent_p.R1475R	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1482					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCTGCCTTCCCTAGGCTGTG	0.478000													16	19					0	0	0.000308642	0	0
TIE1	7075	broad.mit.edu	37	1	43783252	43783252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:43783252G>A	ENST00000372476.3	+	16	2717	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.D525N	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	880	Protein kinase.				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)				CTCTGAAAATGACCATCGTGA	0.493000													78	201					0	0	0.000147903	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325337	77325337	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr16:77325337C>T	ENST00000282849.5	-	21	3646	c.3228G>A	c.(3226-3228)gaG>gaA	p.E1076E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1076	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCACTTCATCTCCCTCTTCC	0.483000													80	63					0	0	0.000147903	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323245	61323245	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr18:61323245C>T	ENST00000283752.5	-	8	962	c.819G>A	c.(817-819)caG>caA	p.Q273Q	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.Q221Q	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	273					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						CTCTCATATTCTGCAAACTTG	0.393000													24	22					0	0	0.000295444	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825928	64825928	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:64825928G>A	ENST00000358658.3	-	1	93	c.66C>T	c.(64-66)atC>atT	p.I22I	NAALADL1_ENST00000356632.3_Silent_p.I22I|NAALADL1_ENST00000355369.2_Silent_p.I22I|NAALADL1_ENST00000339885.2_Silent_p.I22I|NAALADL1_ENST00000340252.4_Silent_p.I22I|NAALADL1_ENST00000355721.3_Silent_p.I22I	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	22					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						AGTGGCCGAGGATGATCCCCA	0.642000													12	16					0	0	0.00010058	0	0
MAP1A	4130	broad.mit.edu	37	15	43819242	43819242	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:43819242C>T	ENST00000382031.1	+	5	6316	c.6285C>T	c.(6283-6285)ctC>ctT	p.L2095L	MAP1A_ENST00000300231.5_Silent_p.L1857L|MAP1A_ENST00000399453.1_Silent_p.L1857L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1857						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGCACCCCTCTCCCCAGCTC	0.627000													11	10					0	0	3.86212e-05	0	0
EDN3	1908	broad.mit.edu	37	20	57876575	57876575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr20:57876575G>A	ENST00000311585.7	+	2	533	c.163G>A	c.(163-165)Gag>Aag	p.E55K	EDN3_ENST00000371025.3_Missense_Mutation_p.E55K|EDN3_ENST00000371028.2_Missense_Mutation_p.E55K|EDN3_ENST00000337938.2_Missense_Mutation_p.E55K|EDN3_ENST00000395654.3_Missense_Mutation_p.E55K	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	55					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TGGCCCTGGCGAGGAGACTGT	0.706000													9	12					0	0	0.000442599	0	0
VARS	7407	broad.mit.edu	37	6	31752241	31752241	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:31752241G>A	ENST00000375663.3	-	12	1946	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	VARS_ENST00000444930.2_Silent_p.S207S	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	502					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGCCAGGCACGGAGAGCAGGG	0.602000													161	341					0	0	0.000147903	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344346	233344346	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:233344346G>A	ENST00000258229.8	-	13	3015	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A	PCNXL2_ENST00000488780.2_Silent_p.A60A|PCNXL2_ENST00000430153.1_Silent_p.A226A	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	927						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAGGGTGCCTGGCTTTGGCCC	0.433000													10	28					0	0	0.000442599	0	0
CCDC138	165055	broad.mit.edu	37	2	109489923	109489923	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:109489923C>T	ENST00000295124.4	+	14	1770	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	CCDC138_ENST00000412964.2_Intron	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	570										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TGCAGCCTTTCCTGGAAGCCT	0.363000													41	112					0	0	0.000125731	0	0
LRP1B	53353	broad.mit.edu	37	2	141299473	141299473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:141299473G>A	ENST00000389484.3	-	44	8233	c.7262C>T	c.(7261-7263)tCg>tTg	p.S2421L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2421					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCCCAGTCCGACCAGAATAT	0.383000										TSP Lung(27;0.18)			17	24					0	0	7.07596e-05	0	0
CYP3A5	1577	broad.mit.edu	37	7	99272187	99272187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:99272187C>T	ENST00000343703.5	-	4	543	c.157G>A	c.(157-159)Gag>Aag	p.E53K	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000439761.1_Missense_Mutation_p.E63K|CYP3A5_ENST00000222982.4_Missense_Mutation_p.E63K|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TTATAGCACTCTGTGTCAAAT	0.398000													14	32					0	0	0.000422831	0	0
FAM149A	25854	broad.mit.edu	37	4	187088408	187088408	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:187088408T>A	ENST00000356371.5	+	13	2240	c.2240T>A	c.(2239-2241)aTt>aAt	p.I747N	FAM149A_ENST00000514153.1_Missense_Mutation_p.I456N|FAM149A_ENST00000503432.1_Missense_Mutation_p.I456N|FAM149A_ENST00000389354.5_Missense_Mutation_p.I456N|FAM149A_ENST00000227065.4_Missense_Mutation_p.I456N|FAM149A_ENST00000502970.1_Missense_Mutation_p.I456N			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	747										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGTCAAAGTATTTTGACAGGT	0.378000													52	98					0	0	0.000147903	0	0
TRIM29	23650	broad.mit.edu	37	11	120008273	120008273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:120008273G>A	ENST00000341846.5	-	1	888	c.467C>T	c.(466-468)gCc>gTc	p.A156V		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	156					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCCCGTGTCGGCCCGGGGGTA	0.642000													20	49					0	0	0.000295444	0	0
ABCA13	154664	broad.mit.edu	37	7	48559846	48559846	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:48559846C>T	ENST00000435803.1	+	53	14031	c.14007C>T	c.(14005-14007)ctC>ctT	p.L4669L	ABCA13_ENST00000544596.1_Silent_p.L399L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4669					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTACTTCTCCTCTTGAGGG	0.522000													7	18					0	0	0.000274275	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457234	45457234	+	RNA	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:45457234G>A	ENST00000548424.1	+	0	448																											ATCAATGCTGGGAGTAATAGG	0.433000													8	7					0	0	0.000157383	0	0
KDR	3791	broad.mit.edu	37	4	55955863	55955863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:55955863G>A	ENST00000263923.4	-	24	3594	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1100	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTACCTAAGGAAAATATTTC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			58	114					0	0	0.000147903	0	0
SNHG14	104472715	broad.mit.edu	37	15	25457072	25457072	+	RNA	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:25457072C>T	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCGAGATTTCCGGCAGGGCCA	0.542000													19	37					0	0	0.000132079	0	0
C9orf173	441476	broad.mit.edu	37	9	140146341	140146341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr9:140146341G>A	ENST00000388931.3	+	2	288	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	C9orf173_ENST00000412566.1_Missense_Mutation_p.E88K	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	88										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GACCCTGAGGGAACTATGTGA	0.637000													3	0					0	0	0.00024832	0	0
KIF4A	24137	broad.mit.edu	37	X	69594073	69594073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:69594073C>T	ENST00000374403.3	+	16	1829	c.1747C>T	c.(1747-1749)Cag>Tag	p.Q583*	KIF4A_ENST00000374388.3_Nonsense_Mutation_p.Q583*	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	583					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTTGAACTTCAGACAGCAAA	0.353000													32	68					0	0	0.00058488	0	0
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:7577105G>A	ENST00000420246.2	-	8	965	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_ENST00000455263.2_Missense_Mutation_p.P278L|TP53_ENST00000359597.4_Missense_Mutation_p.P278L|TP53_ENST00000269305.4_Missense_Mutation_p.P278L|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTCTCCCAGGACAGGCACA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	6					0	0	0.000422831	0	0
OR13G1	441933	broad.mit.edu	37	1	247835593	247835593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:247835593G>A	ENST00000359688.2	-	1	772	c.751C>T	c.(751-753)Cct>Tct	p.P251S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGATTACAGGAGAATAGTAA	0.453000													6	39					0	0	0.000157383	0	0
OR10J1	26476	broad.mit.edu	37	1	159410164	159410164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:159410164G>A	ENST00000423932.3	+	1	653	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	206					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CACTGTCAATGAAATCCTGAC	0.438000													43	57					0	0	0.000147903	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576572	33576572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:33576572C>T	ENST00000504830.1	-	19	3894	c.3559G>A	c.(3559-3561)Gct>Act	p.A1187T	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A1102T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1187	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCACTGGAGCGTCATTTCCA	0.498000										HNSCC(64;0.19)			43	96					0	0	0.000147903	0	0
ANKRD50	57182	broad.mit.edu	37	4	125593615	125593615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:125593615G>A	ENST00000504087.1	-	4	1854	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R94C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	273										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGATCTAAACGATGAAGAATG	0.363000													14	13					0	0	0.000219431	0	0
PIPSL	266971	broad.mit.edu	37	10	95721273	95721273	+	RNA	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr10:95721273C>T	ENST00000480546.1	-	0	24					NR_002319.2																						CAGCCCCCTCCCCCTCAAGGG	0.597000													24	23					0	0	0.000227799	0	0
MSR1	4481	broad.mit.edu	37	8	15967646	15967646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:15967646C>T	ENST00000350896.3	-	9	1312	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	MSR1_ENST00000262101.5_Missense_Mutation_p.G435E|MSR1_ENST00000355282.2_Missense_Mutation_p.G372E|MSR1_ENST00000445506.2_Missense_Mutation_p.G453E	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	435	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GGCTCTTGTCCCCCATTGCCG	0.373000													36	53					0	0	0.000132358	0	0
TRIM10	10107	broad.mit.edu	37	6	30128513	30128513	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:30128513G>A	ENST00000449742.2	-	1	198	c.123C>T	c.(121-123)acC>acT	p.T41T	TRIM10_ENST00000376704.3_Silent_p.T41T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	41						cytoplasm	zinc ion binding			ovary(1)	1						CACAGTAGCGGGTAAGGCAGG	0.622000													52	83					0	0	0.000147903	0	0
GSTCD	79807	broad.mit.edu	37	4	106766726	106766726	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:106766726C>G	ENST00000515279.1	+	12	2114	c.1894C>G	c.(1894-1896)Ccc>Gcc	p.P632A	GSTCD_ENST00000394730.3_Missense_Mutation_p.P545A|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Missense_Mutation_p.P632A|GSTCD_ENST00000360505.5_Missense_Mutation_p.P632A			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	632						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TGTGGGAGTCCCCATTTAAAA	0.453000													17	28					0	0	0.000132079	0	0
FAM227B	196951	broad.mit.edu	37	15	49880259	49880259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:49880259C>T	ENST00000299338.6	-	5	662	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	FAM227B_ENST00000561064.1_Missense_Mutation_p.R120Q|FAM227B_ENST00000558594.1_Missense_Mutation_p.R120Q|FAM227B_ENST00000560246.1_Missense_Mutation_p.R120Q	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TTCCCCATATCGTTCCAATTT	0.244000													11	32					0	0	0.00010058	0	0
TERT	7015	broad.mit.edu	37	5	1272354	1272354	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:1272354G>A	ENST00000310581.5	-	7	2385	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	TERT_ENST00000508104.2_Intron|TERT_ENST00000296820.5_Intron|TERT_ENST00000334602.6_Silent_p.F776F	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	776	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGAGCCACGAACTGTCGCA	0.657000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				8	12					0	0	0.000442599	0	0
MRPS15	64960	broad.mit.edu	37	1	36926372	36926372	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:36926372C>T	ENST00000373116.5	-	5	467	c.306G>A	c.(304-306)gaG>gaA	p.E102E		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	102					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTTTAGCATCTCCTTCTGTT	0.507000													20	18					0	0	0.000175454	0	0
OSBPL6	114880	broad.mit.edu	37	2	179255919	179255919	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:179255919C>T	ENST00000190611.4	+	22	2797	c.2421C>T	c.(2419-2421)ccC>ccT	p.P807P	OSBPL6_ENST00000315022.2_Silent_p.P811P|OSBPL6_ENST00000409045.3_Silent_p.P776P|OSBPL6_ENST00000409631.1_Silent_p.P771P|OSBPL6_ENST00000359685.3_Silent_p.P771P|OSBPL6_ENST00000392505.2_Silent_p.P832P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	807					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTGTGGCCCCCTCTGCAAAGT	0.537000													46	74					0	0	0.000147903	0	0
CCDC30	728621	broad.mit.edu	37	1	43021909	43021909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:43021909G>A	ENST00000428554.2	+	12	1651	c.508G>A	c.(508-510)Gag>Aag	p.E170K	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000340612.4_Missense_Mutation_p.E170K|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.E170K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	170										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGGGCAGAAGGAGGAGGGCTC	0.438000													20	45					0	0	9.7654e-05	0	0
ZNF280C	55609	broad.mit.edu	37	X	129343677	129343677	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:129343677G>A	ENST00000370978.4	-	16	2145	c.1992C>T	c.(1990-1992)aaC>aaT	p.N664N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TACCTGGATGGTTGCTATGAG	0.313000													77	175					0	0	0.000147903	0	0
SPERT	220082	broad.mit.edu	37	13	46287733	46287733	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr13:46287733G>A	ENST00000378966.3	+	2	881	c.465G>A	c.(463-465)aaG>aaA	p.K155K	SPERT_ENST00000310521.1_Silent_p.K191K			Q8NA61	SPERT_HUMAN	spermatid associated	191						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TGCTCAGCAAGGAGAACAAGA	0.622000													24	58					0	0	0.000117367	0	0
ENTHD2	146705	broad.mit.edu	37	17	79205748	79205748	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:79205748G>A	ENST00000374769.2	-	9	825	c.348C>T	c.(346-348)tcC>tcT	p.S116S	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Silent_p.S200S					ENTH domain containing 2																		TGTTCTGGGAGGAATTCTGAG	0.657000													32	16					0	0	0.000270559	0	0
LZTFL1	54585	broad.mit.edu	37	3	45875784	45875784	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:45875784T>A	ENST00000296135.6	-	4	504	c.330A>T	c.(328-330)ttA>ttT	p.L110F	LZTFL1_ENST00000536047.1_Missense_Mutation_p.L93F|LZTFL1_ENST00000539217.1_Missense_Mutation_p.L106F|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	110										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTTGTTCTAATAATTCTCTTG	0.284000													10	31					0	0	3.86212e-05	0	0
CDH10	1008	broad.mit.edu	37	5	24509771	24509771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:24509771G>A	ENST00000264463.4	-	7	1667	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	387	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAGATAGGAGGACCTACTAAA	0.393000										HNSCC(23;0.051)			20	34					0	0	0.000229342	0	0
ITGB4	3691	broad.mit.edu	37	17	73729654	73729654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:73729654C>T	ENST00000200181.3	+	13	1725	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	ITGB4_ENST00000449880.2_Missense_Mutation_p.S513F|ITGB4_ENST00000579662.1_Missense_Mutation_p.S513F|ITGB4_ENST00000339591.3_Missense_Mutation_p.S513F|ITGB4_ENST00000450894.3_Missense_Mutation_p.S513F|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	513	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGCCGTGCTCCGGCCGTGGG	0.637000													19	8					0	0	0.000375601	0	0
COL14A1	7373	broad.mit.edu	37	8	121293299	121293299	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:121293299G>A	ENST00000297848.3	+	31	4094		c.e31+1		COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGCCAACCAGGTATGTTTCTG	0.388000													26	43					0	0	0.000339439	0	0
PRSS42	339906	broad.mit.edu	37	3	46874471	46874471	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:46874471C>T	ENST00000429665.1	-	3	596	c.597G>A	c.(595-597)agG>agA	p.R199R	PRSS42_ENST00000447340.1_Intron	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	199	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						TCACCCAGCACCTGGTCCTAC	0.537000													29	49					0	0	0.00058488	0	0
CACNA1D	776	broad.mit.edu	37	3	53785881	53785881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:53785881G>A	ENST00000288139.3	+	29	3800	c.3682G>A	c.(3682-3684)Gaa>Aaa	p.E1228K	CACNA1D_ENST00000350061.5_Missense_Mutation_p.E1208K|CACNA1D_ENST00000540742.1_Missense_Mutation_p.E115K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1208K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1208					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTCGCCTTTCGAATACATGAT	0.507000													88	148					0	0	0.000147903	0	0
DNAJC5	80331	broad.mit.edu	37	20	62560693	62560693	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr20:62560693A>T	ENST00000360864.4	+	3	289	c.136A>T	c.(136-138)Aag>Tag	p.K46*	DNAJC5_ENST00000369911.2_Nonsense_Mutation_p.K46*	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	46	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCACCCCGACAAGAACCCCGA	0.567000													8	19					0	0	0.000442599	0	0
LRRK1	79705	broad.mit.edu	37	15	101562674	101562674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:101562674C>T	ENST00000284395.5	+	16	2330	c.1930C>T	c.(1930-1932)Ccg>Tcg	p.P644S	LRRK1_ENST00000388948.3_Missense_Mutation_p.P647S			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	647	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGTGGGTCCCCCGCGCCAGGG	0.592000													38	65					0	0	0.000509022	0	0
CNTN5	53942	broad.mit.edu	37	11	99872785	99872785	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:99872785G>A	ENST00000524871.1	+	9	1187	c.897G>A	c.(895-897)gaG>gaA	p.E299E	CNTN5_ENST00000418526.2_Silent_p.E225E|CNTN5_ENST00000279463.3_Silent_p.E299E|CNTN5_ENST00000527185.1_Silent_p.E299E|CNTN5_ENST00000528682.1_Silent_p.E299E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	299					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAGAATATGAGCCGAAAATTG	0.358000													7	24					0	0	3.86212e-05	0	0
OTOA	146183	broad.mit.edu	37	16	21734260	21734260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr16:21734260C>T	ENST00000388958.3	+	17	1842	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	OTOA_ENST00000388957.3_Missense_Mutation_p.S290F|OTOA_ENST00000388956.4_Missense_Mutation_p.S535F|OTOA_ENST00000286149.4_Missense_Mutation_p.S628F	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	628					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGGAAGTTTCCAGATTGTCT	0.458000													24	30					0	0	0.000147802	0	0
CAPN6	827	broad.mit.edu	37	X	110496399	110496399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:110496399C>T	ENST00000324068.1	-	4	510	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	115	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCGTATTTTTCTGTTTTTTGA	0.408000													25	70					0	0	0.000184323	0	0
TYSND1	219743	broad.mit.edu	37	10	71905212	71905212	+	Silent	SNP	T	T	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr10:71905212T>C	ENST00000287078.6	-	1	1130	c.1131A>G	c.(1129-1131)gaA>gaG	p.E377E	TYSND1_ENST00000335494.5_Silent_p.E377E	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	377	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCCTGGCTGCTTCCCGAGGGG	0.657000													7	4					0	0	0.000274275	0	0
AKAP1	8165	broad.mit.edu	37	17	55183806	55183806	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:55183806T>G	ENST00000337714.3	+	2	1214	c.981T>G	c.(979-981)aaT>aaG	p.N327K	AKAP1_ENST00000539273.1_Missense_Mutation_p.N327K|AKAP1_ENST00000314126.3_Missense_Mutation_p.N327K|AKAP1_ENST00000572557.1_Missense_Mutation_p.N327K|AKAP1_ENST00000571629.1_Missense_Mutation_p.N327K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	327					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGATAGAAATGAGGAGAGCT	0.493000													56	52					0	0	0.000147903	0	0
GSTCD	79807	broad.mit.edu	37	4	106755698	106755698	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:106755698C>T	ENST00000515279.1	+	9	1831	c.1611C>T	c.(1609-1611)tgC>tgT	p.C537C	GSTCD_ENST00000394730.3_Silent_p.C450C|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Silent_p.C537C|GSTCD_ENST00000360505.5_Silent_p.C537C			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	537						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TCGTCACATGCCCTTGCTGTT	0.428000													43	73					0	0	0.000589545	0	0
ERC1	23085	broad.mit.edu	37	12	1399136	1399136	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:1399136G>C	ENST00000397203.2	+	15	3144	c.2738G>C	c.(2737-2739)cGg>cCg	p.R913P	ERC1_ENST00000589028.1_Missense_Mutation_p.R913P|ERC1_ENST00000360905.4_Missense_Mutation_p.R913P|ERC1_ENST00000543086.3_Missense_Mutation_p.R885P|ERC1_ENST00000546231.2_Missense_Mutation_p.R917P|ERC1_ENST00000355446.5_Missense_Mutation_p.R913P			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	913					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACTAATCTTCGGGCAGAGAGA	0.433000													31	74					0	0	0.000491102	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222697	130222697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:130222697C>T	ENST00000276211.5	+	12	1927	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P516S|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P392S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	528					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCAAGACCGCCCATTGCTCCG	0.567000													26	41					0	0	0.000184323	0	0
PORCN	64840	broad.mit.edu	37	X	48372736	48372736	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:48372736G>A	ENST00000367574.4	+	7	1087	c.582G>A	c.(580-582)gaG>gaA	p.E194E	PORCN_ENST00000361988.3_Silent_p.E265E|PORCN_ENST00000326194.6_Silent_p.E276E|PORCN_ENST00000355961.4_Silent_p.E271E|PORCN_ENST00000355092.3_Silent_p.E270E|PORCN_ENST00000537758.1_Silent_p.E276E|PORCN_ENST00000359882.4_Silent_p.E270E			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	276					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTACCGAGGAGAAGGATCACC	0.637000													13	16					0	0	0.00010058	0	0
SPNS2	124976	broad.mit.edu	37	17	4416547	4416547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:4416547C>T	ENST00000329078.3	+	2	586	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	126					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TCCAGGCGTCCTTCTGGACAT	0.677000													29	24					0	0	0.000132358	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42275028	42275028	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:42275028C>A	ENST00000389384.4	-	2	430	c.122G>T	c.(121-123)cGg>cTg	p.R41L	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R41L	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	41					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGACAGCCCGGTGTACCTC	0.552000													44	34					2.55665e-31	5.45301e-30	0.000147903	1	0
KMT2A	4297	broad.mit.edu	37	11	118374290	118374290	+	Silent	SNP	A	A	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:118374290A>G	ENST00000534358.1	+	27	7706	c.7683A>G	c.(7681-7683)ccA>ccG	p.P2561P	KMT2A_ENST00000354520.4_Silent_p.P2520P|KMT2A_ENST00000389506.5_Silent_p.P2558P	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCACAGAACCAATTTCAGCCT	0.433000													27	34					0	0	0.000409698	0	0
PTPRR	5801	broad.mit.edu	37	12	71286730	71286730	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:71286730A>C	ENST00000283228.2	-	2	538	c.86T>G	c.(85-87)tTt>tGt	p.F29C		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	29					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AATTGCCAAAAAATGATCATT	0.378000													21	31					0	0	0.000175454	0	0
COL6A3	1293	broad.mit.edu	37	2	238280589	238280589	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:238280589C>T	ENST00000295550.4	-	9	4523	c.4071G>A	c.(4069-4071)gtG>gtA	p.V1357V	COL6A3_ENST00000472056.1_Silent_p.V750V|COL6A3_ENST00000392004.3_Silent_p.V1151V|COL6A3_ENST00000346358.4_Silent_p.V1157V|COL6A3_ENST00000392003.2_Silent_p.V950V|COL6A3_ENST00000409809.1_Silent_p.V1151V|COL6A3_ENST00000347401.3_Silent_p.V1156V|COL6A3_ENST00000353578.4_Silent_p.V1151V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1357	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTTGAGCTCCACCGCCGGGT	0.612000													13	29					0	0	0.000151284	0	0
DNAH5	1767	broad.mit.edu	37	5	13754372	13754372	+	Missense_Mutation	SNP	C	C	T	rs148592658		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:13754372C>T	ENST00000265104.4	-	62	10599	c.10495G>A	c.(10495-10497)Gaa>Aaa	p.E3499K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3499					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3499K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTCTTTTTCACCTGCCAAG	0.413000									Kartagener syndrome				45	70					0	0	0.000147903	0	0
STK31	56164	broad.mit.edu	37	7	23827599	23827599	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:23827599G>A	ENST00000354639.3	+	21	2883	c.2418_splice	c.e21-1	p.E807_splice	STK31_ENST00000428484.1_Splice_Site_p.E807_splice|STK31_ENST00000355870.3_Splice_Site_p.E830_splice|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Splice_Site_p.E830_splice	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	830	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTATCTATAGGAAACTTTAAA	0.348000													32	63					0	0	0.000132358	0	0
PADI3	51702	broad.mit.edu	37	1	17599926	17599926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:17599926C>T	ENST00000375460.3	+	10	1179	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	380					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGGATTTCCCTTACAAAAGA	0.622000													8	31					0	0	0.000274275	0	0
SCN4A	6329	broad.mit.edu	37	17	62043901	62043901	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:62043901T>C	ENST00000435607.1	-	7	1116	c.1040A>G	c.(1039-1041)aAc>aGc	p.N347S	SCN4A_ENST00000578147.1_Missense_Mutation_p.N347S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	347					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GAAGTAGAAGTTCCCTTTGGG	0.582000													9	5					0	0	0.000442599	0	0
TRIM33	51592	broad.mit.edu	37	1	114940389	114940389	+	Silent	SNP	A	A	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:114940389A>G	ENST00000358465.2	-	20	3348	c.3265T>C	c.(3265-3267)Ttg>Ctg	p.L1089L	TRIM33_ENST00000450349.2_Silent_p.L721L|TRIM33_ENST00000369543.2_Silent_p.L1072L	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1089					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		AACTCTGGCAAAGGTGCGAAG	0.473000			T	RET	papillary thyroid								17	120					0	0	0.000422831	0	0
NELL2	4753	broad.mit.edu	37	12	45000984	45000984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:45000984G>A	ENST00000429094.2	-	15	2135	c.1631C>T	c.(1630-1632)cCa>cTa	p.P544L	NELL2_ENST00000437801.2_Missense_Mutation_p.P594L|NELL2_ENST00000551601.1_Missense_Mutation_p.P543L|NELL2_ENST00000395487.2_Missense_Mutation_p.P543L|NELL2_ENST00000549027.1_Missense_Mutation_p.P543L|NELL2_ENST00000333837.4_Missense_Mutation_p.P567L|NELL2_ENST00000452445.2_Missense_Mutation_p.P544L	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	544	EGF-like 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GAAGCCTTGTGGGCAGGCACA	0.393000													18	12					0	0	0.000375601	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218372	130218372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:130218372G>A	ENST00000276211.5	+	5	1084	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.E235K|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.E111K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	247	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCAATTCATTGAAAAACATGG	0.478000													6	27					0	0	3.59834e-05	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637023	6637023	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:6637023C>T	ENST00000315579.5	+	23	3787	c.2988C>T	c.(2986-2988)atC>atT	p.I996I	NCAPD2_ENST00000545962.1_Silent_p.I951I|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	996					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGAACTAATCCGTGGCATCT	0.493000													68	168					0	0	0.000147903	0	0
OBSCN	84033	broad.mit.edu	37	1	228433280	228433280	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:228433280C>T	ENST00000570156.2	+	13	3998	c.3924C>T	c.(3922-3924)gtC>gtT	p.V1308V	OBSCN_ENST00000284548.11_Silent_p.V1216V|OBSCN_ENST00000422127.1_Silent_p.V1216V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	287	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCATGGAGGTCAAGGGCTGCA	0.602000													19	28					0	0	7.07596e-05	0	0
TRPC6	7225	broad.mit.edu	37	11	101323826	101323826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:101323826C>T	ENST00000344327.3	-	13	3080	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	TRPC6_ENST00000348423.4_Missense_Mutation_p.E770K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E808K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E831K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	886					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGCTTAATTTCCTTCAGTTCC	0.398000													45	53					0	0	0.000147903	0	0
IL2RB	3560	broad.mit.edu	37	22	37528505	37528505	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr22:37528505C>T	ENST00000216223.5	-	9	1020	c.822G>A	c.(820-822)ctG>ctA	p.L274L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	274					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACCTTCTTCAGCCTGGACA	0.617000													9	17					0	0	0.000442599	0	0
SLC9A1	6548	broad.mit.edu	37	1	27428548	27428548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:27428548G>A	ENST00000263980.3	-	9	2469	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	SLC9A1_ENST00000545949.1_Missense_Mutation_p.R293C	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	632					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGGATTTTGCGGATCTCCTCC	0.617000													13	97					0	0	0.000566183	0	0
TRPV5	56302	broad.mit.edu	37	7	142626589	142626589	+	Missense_Mutation	SNP	C	C	T	rs35814608		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:142626589C>T	ENST00000265310.1	-	4	769	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	TRPV5_ENST00000442623.1_Missense_Mutation_p.A141T	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	141					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GAGACACTGGCCCTGCGGGTG	0.602000													29	71					0	0	0.000109025	0	0
SLIT2	9353	broad.mit.edu	37	4	20591354	20591354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:20591354G>A	ENST00000504154.1	+	30	3428	c.3176G>A	c.(3175-3177)gGa>gAa	p.G1059E	SLIT2_ENST00000503837.1_Missense_Mutation_p.G1055E|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1072E|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1051E	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1059	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTCCAAAGGGATTCAAGTAA	0.502000													17	40					0	0	7.07596e-05	0	0
PRSS42	339906	broad.mit.edu	37	3	46874472	46874472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:46874472C>T	ENST00000429665.1	-	3	595	c.596G>A	c.(595-597)aGg>aAg	p.R199K	PRSS42_ENST00000447340.1_Intron	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	199	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R199M(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CACCCAGCACCTGGTCCTACC	0.537000													29	48					0	0	0.000491102	0	0
OSBPL6	114880	broad.mit.edu	37	2	179255918	179255918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:179255918C>T	ENST00000190611.4	+	22	2796	c.2420C>T	c.(2419-2421)cCc>cTc	p.P807L	OSBPL6_ENST00000315022.2_Missense_Mutation_p.P811L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P776L|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P771L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P771L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P832L	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	807					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGTGTGGCCCCCTCTGCAAAG	0.537000													46	72					0	0	0.000147903	0	0
TLE3	7090	broad.mit.edu	37	15	70351115	70351115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:70351115G>A	ENST00000558939.1	-	11	2182	c.805C>T	c.(805-807)Cct>Tct	p.P269S	TLE3_ENST00000442299.2_Missense_Mutation_p.P269S|TLE3_ENST00000557997.1_Missense_Mutation_p.P269S|TLE3_ENST00000558201.1_Missense_Mutation_p.P275S|TLE3_ENST00000440567.3_Missense_Mutation_p.P262S|TLE3_ENST00000451782.2_Missense_Mutation_p.P269S|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Missense_Mutation_p.P269S|TLE3_ENST00000560589.1_Missense_Mutation_p.P213S|TLE3_ENST00000559048.1_Missense_Mutation_p.P274S|TLE3_ENST00000557907.1_Missense_Mutation_p.P269S|TLE3_ENST00000559929.1_Missense_Mutation_p.P279S|TLE3_ENST00000539550.1_Missense_Mutation_p.P213S|TLE3_ENST00000558379.1_Missense_Mutation_p.P269S|TLE3_ENST00000560939.1_Missense_Mutation_p.P274S			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	269	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCATTTTCAGGAGGGGAGTGT	0.602000													10	16					0	0	6.40141e-05	0	0
CAPN3	825	broad.mit.edu	37	15	42680027	42680027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:42680027C>T	ENST00000397163.3	+	4	794	c.575C>T	c.(574-576)aCc>aTc	p.T192I	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.T192I|CAPN3_ENST00000318023.7_Missense_Mutation_p.T192I|CAPN3_ENST00000357568.3_Missense_Mutation_p.T192I|CAPN3_ENST00000356316.3_Missense_Mutation_p.T105I	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	192	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CTGGTTTTCACCAAGTCCAAC	0.502000													31	81					0	0	0.000227799	0	0
PXK	54899	broad.mit.edu	37	3	58398679	58398679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:58398679C>T	ENST00000463280.1	+	15	1509	c.1418C>T	c.(1417-1419)cCc>cTc	p.P473L	PXK_ENST00000383715.4_Missense_Mutation_p.P489L|PXK_ENST00000356151.2_Missense_Mutation_p.P506L|PXK_ENST00000383716.3_Missense_Mutation_p.P473L|PXK_ENST00000302779.5_Missense_Mutation_p.P489L|PXK_ENST00000479241.1_Missense_Mutation_p.P488L|PXK_ENST00000484288.1_Missense_Mutation_p.P506L|PXK_ENST00000536660.1_Missense_Mutation_p.P369L			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	506	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCAACTCCACCCTCTACATCA	0.537000													45	79					0	0	0.000147903	0	0
OR14C36	127066	broad.mit.edu	37	1	248512089	248512089	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:248512089A>G	ENST00000317861.1	+	1	13	c.13A>G	c.(13-15)Acc>Gcc	p.T5A		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GCCCAATTCAACCACCGTGAT	0.398000													19	28					0	0	0.000229342	0	0
MCHR2	84539	broad.mit.edu	37	6	100369011	100369011	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:100369011C>T	ENST00000281806.2	-	6	1142	c.828G>A	c.(826-828)caG>caA	p.Q276Q	MCHR2_ENST00000445970.1_Silent_p.Q276Q|MCHR2_ENST00000369212.1_Silent_p.Q276Q	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	276						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTGTTCCATCTGTAAGTTCA	0.473000													5	41					0	0	1.23904e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92258086	92258086	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:92258086G>A	ENST00000298047.6	+	2	3596	c.3579G>A	c.(3577-3579)caG>caA	p.Q1193Q	FAT3_ENST00000525166.1_Silent_p.Q1043Q|FAT3_ENST00000409404.2_Silent_p.Q1193Q|FAT3_ENST00000541502.1_Silent_p.Q1193Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1193	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAATCCTCAGAATTTTTTTG	0.383000										TCGA Ovarian(4;0.039)			102	198					0	0	0.000147903	0	0
ARPC3	10094	broad.mit.edu	37	12	110883265	110883265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:110883265G>A	ENST00000228825.7	-	2	244	c.98C>T	c.(97-99)cCc>cTc	p.P33L	ARPC3_ENST00000471641.1_5'UTR|RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	33					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			lung(1)|ovary(1)	2						ACTCTCTCTGGGGGCAGGTCC	0.398000													31	24					0	0	0.000409698	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904694	144904694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:144904694G>A	ENST00000370490.1	+	1	5006	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	SLITRK2_ENST00000434188.2_Missense_Mutation_p.G251R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G251R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G251R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G251R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	251	LRRCT 1.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGTTGCATGGGAAAGACGT	0.512000													35	73					0	0	0.000374591	0	0
CALB2	794	broad.mit.edu	37	16	71406091	71406091	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr16:71406091T>G	ENST00000302628.4	+	2	207	c.130T>G	c.(130-132)Ttt>Gtt	p.F44V	CALB2_ENST00000349553.5_Missense_Mutation_p.F44V	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	44	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCTAGAAAACTTTTTCCAAGA	0.463000													6	56					0	0	3.59834e-05	0	0
EXPH5	23086	broad.mit.edu	37	11	108381789	108381789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:108381789C>T	ENST00000265843.4	-	6	4555	c.4445G>A	c.(4444-4446)aGg>aAg	p.R1482K	EXPH5_ENST00000428840.1_Missense_Mutation_p.R1406K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1294K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1475K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1482					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCTGCCTTCCCTAGGCTGTGA	0.483000													17	17					0	0	0.000422831	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211180	107211180	+	RNA	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr14:107211180G>A	ENST00000390636.2	-	0	188																											GAGAGTTTCAGGGACCCCCCA	0.617000													44	24					0	0	0.000437636	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146681	70146681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:70146681C>T	ENST00000335568.5	+	1	465	c.463C>T	c.(463-465)Cct>Tct	p.P155S	UGT2B28_ENST00000511240.1_Missense_Mutation_p.P155S	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	155					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.P155S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TGCTTTTTTTCCTTGTGGTGA	0.383000													29	72					0	0	0.000339439	0	0
BIRC2	329	broad.mit.edu	37	11	102248425	102248425	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:102248425A>G	ENST00000227758.2	+	7	2964	c.1565A>G	c.(1564-1566)aAc>aGc	p.N522S	BIRC2_ENST00000532672.1_Missense_Mutation_p.N501S|BIRC2_ENST00000530675.1_Missense_Mutation_p.N473S|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	522	CARD.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GCTGCGGCCAACATCTTCAAA	0.318000													14	50					0	0	0.000422831	0	0
MYO18B	84700	broad.mit.edu	37	22	26228956	26228956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr22:26228956C>T	ENST00000335473.7	+	16	3302	c.3052C>T	c.(3052-3054)Ccc>Tcc	p.P1018S	MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P1018S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGATCAAAATCCCTCTCAGGT	0.502000													14	46					0	0	0.000422831	0	0
TMEM163	81615	broad.mit.edu	37	2	135260541	135260541	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:135260541G>A	ENST00000281924.6	-	5	550	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	162						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ATGACAGAAGGAATATCACCC	0.438000													7	13					0	0	0.000274275	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862838	10862838	+	RNA	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr21:10862838G>A	ENST00000559480.1	+	0	134																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						AAGGCTTCTGGATACACCATC	0.587000													21	108					0	0	0.000175454	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985594	34985594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:34985594C>T	ENST00000360359.3	+	11	1906	c.1768C>T	c.(1768-1770)Ccg>Tcg	p.P590S	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	590						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CACAGCATCTCCGCACCCTGG	0.622000													47	42					0	0	0.000147903	0	0
FBXO36	130888	broad.mit.edu	37	2	230875560	230875560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:230875560G>A	ENST00000373652.3	+	5	855	c.434G>A	c.(433-435)aGg>aAg	p.R145K	FBXO36_ENST00000409992.1_Missense_Mutation_p.R156K|FBXO36_ENST00000283946.3_Missense_Mutation_p.R176K			Q8NEA4	FBX36_HUMAN	F-box protein 36	176										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTCCGCAAGAGGAAACAAAAA	0.537000													8	19					0	0	0.000274275	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910504	230910504	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:230910504G>A	ENST00000295190.4	-	4	1796	c.1338C>T	c.(1336-1338)atC>atT	p.I446I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	446						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CATTAGCACAGATGATGATGC	0.473000													19	35					0	0	0.000295444	0	0
SPNS2	124976	broad.mit.edu	37	17	4416546	4416546	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:4416546C>T	ENST00000329078.3	+	2	585	c.375C>T	c.(373-375)gtC>gtT	p.V125V		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	125					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTCCAGGCGTCCTTCTGGACA	0.677000													29	24					0	0	0.000109025	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407088	38407088	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:38407088G>A	ENST00000322350.5	+	8	1333	c.987G>A	c.(985-987)caG>caA	p.Q329Q	EGFLAM_ENST00000354891.3_Silent_p.Q329Q|EGFLAM_ENST00000336740.6_Silent_p.Q95Q|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	329						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTCCCATACAGAGAAAGGGGA	0.498000													25	45					0	0	9.22233e-05	0	0
TRANK1	9881	broad.mit.edu	37	3	36873966	36873966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:36873966C>T	ENST00000301807.6	-	21	7223	c.5326G>A	c.(5326-5328)Gat>Aat	p.D1776N	TRANK1_ENST00000429976.2_Missense_Mutation_p.D2326N|TRANK1_ENST00000428977.2_Missense_Mutation_p.D1776N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2326					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCCTTTCATCCTTTTCAGAC	0.488000													29	128					0	0	0.00058488	0	0
C16orf71	146562	broad.mit.edu	37	16	4790608	4790608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr16:4790608C>T	ENST00000299320.5	+	4	1209	c.731C>T	c.(730-732)tCc>tTc	p.S244F	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.S258F	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	244										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCTCCCAGATCCAAAATGCCC	0.652000													13	20					0	0	0.000219431	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101595985	101595985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:101595985G>A	ENST00000310954.6	-	6	1346	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	354					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTACTCTGATGAGCCTGGGAA	0.259000													5	21					0	0	8.12818e-05	0	0
TEC	7006	broad.mit.edu	37	4	48169925	48169925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:48169925C>T	ENST00000381501.3	-	7	698	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	181	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ACGATTTCTTCACTATTATCT	0.383000													31	64					0	0	0.000491102	0	0
CXCL14	9547	broad.mit.edu	37	5	134914211	134914211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:134914211G>A	ENST00000337225.5	-	2	583	c.119C>T	c.(118-120)tCc>tTc	p.S40F	CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.S28F	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	40					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCTTCCGGGAGCACTTGCA	0.602000													30	21					0	0	0.000491102	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83374903	83374903	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:83374903C>G	ENST00000262752.2	-	9	786	c.779G>C	c.(778-780)gGt>gCt	p.G260A	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.G260A	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	260	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CATAAGAACACCATATGACCA	0.343000													25	43					0	0	0.000117367	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515462	140515462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:140515462G>A	ENST00000231134.5	+	1	663	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		149	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAGCCAGGGACTGTGTTT	0.443000													34	21					0	0	0.000159656	0	0
PLXNB1	5364	broad.mit.edu	37	3	48464220	48464220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:48464220C>T	ENST00000358536.4	-	4	1513	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	PLXNB1_ENST00000456774.1_Missense_Mutation_p.G415E|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G415E|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G415E	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	415	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GATGGTGTGTCCATCTTCCAT	0.607000													20	37					0	0	0.000229342	0	0
IL37	27178	broad.mit.edu	37	2	113675351	113675351	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:113675351G>A	ENST00000263326.3	+	4	447	c.405G>A	c.(403-405)ctG>ctA	p.L135L	IL37_ENST00000349806.3_Silent_p.L74L|IL37_ENST00000353225.3_Silent_p.L95L|IL37_ENST00000311328.2_Silent_p.L109L|IL37_ENST00000352179.3_Silent_p.L114L	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	135					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CCCTTCAGCTGAAGGTGAGAG	0.483000													46	53					0	0	0.000147903	0	0
ENPP3	5169	broad.mit.edu	37	6	132006568	132006568	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:132006568C>T	ENST00000414305.1	+	14	1513	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	ENPP3_ENST00000357639.3_Silent_p.F395F|ENPP3_ENST00000358229.5_Silent_p.F395F			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	395	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GAATAAACTTCTTCTACATGT	0.363000													96	71					0	0	0.000147903	0	0
OTOF	9381	broad.mit.edu	37	2	26699021	26699021	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:26699021G>A	ENST00000272371.2	-	23	2967	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F	OTOF_ENST00000338581.6_Silent_p.F200F|OTOF_ENST00000403946.3_Silent_p.F947F|OTOF_ENST00000402415.3_Silent_p.F257F|OTOF_ENST00000339598.3_Silent_p.F200F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	947	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACGGGTGGGAAGGCATGCA	0.667000													4	14					0	0	0.00024832	0	0
ARMC12	221481	broad.mit.edu	37	6	35715185	35715185	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:35715185C>T	ENST00000373866.3	+	4	614	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	ARMC12_ENST00000373869.3_Silent_p.L198L|ARMC12_ENST00000288065.2_Silent_p.L225L			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	198							binding										GATGGAGATCCTGCAGTCAGA	0.592000													21	19					0	0	0.000375601	0	0
COL14A1	7373	broad.mit.edu	37	8	121293298	121293298	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:121293298G>A	ENST00000297848.3	+	31	4094	c.3824_splice	c.e31+1	p.R1275_splice	COL14A1_ENST00000309791.4_Splice_Site_p.R1275_splice|COL14A1_ENST00000247781.3_Splice_Site_p.R1180_splice	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1275	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCCAACCAGGTATGTTTCT	0.393000													27	43					0	0	0.000409698	0	0
PCCB	5096	broad.mit.edu	37	3	136019900	136019900	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:136019900A>G	ENST00000471595.1	+	9	931	c.913A>G	c.(913-915)Att>Gtt	p.I305V	PCCB_ENST00000466072.1_Missense_Mutation_p.I305V|PCCB_ENST00000483687.1_Missense_Mutation_p.I286V|PCCB_ENST00000251654.4_Missense_Mutation_p.I305V|PCCB_ENST00000462637.1_Missense_Mutation_p.I282V|PCCB_ENST00000482086.1_Missense_Mutation_p.I189V|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000469217.1_Missense_Mutation_p.I325V|PCCB_ENST00000490504.1_Missense_Mutation_p.I248V|PCCB_ENST00000468777.1_Missense_Mutation_p.I336V			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	305	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GCTTGACACAATTGTCCCTTT	0.468000													28	27					0	0	0.000279167	0	0
PHLDB2	90102	broad.mit.edu	37	3	111664167	111664167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:111664167G>A	ENST00000431670.2	+	9	2861	c.2450G>A	c.(2449-2451)gGg>gAg	p.G817E	PHLDB2_ENST00000481953.1_Missense_Mutation_p.G774E|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G774E|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G801E|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G817E|PHLDB2_ENST00000495180.1_Missense_Mutation_p.G403E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	817						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTCTCTGGGGGGAAAGGGTTT	0.373000													36	56					0	0	0.000270559	0	0
KLK5	25818	broad.mit.edu	37	19	51452022	51452022	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:51452022G>A	ENST00000336334.3	-	5	952	c.600C>T	c.(598-600)ttC>ttT	p.F200F	KLK5_ENST00000593428.1_Silent_p.F200F|KLK5_ENST00000391809.2_Silent_p.F200F	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	200	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGACCTTAGGGAAGTGCACTG	0.517000													35	18					0	0	0.000270559	0	0
TBX15	6913	broad.mit.edu	37	1	119469221	119469221	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:119469221C>A	ENST00000369429.3	-	3	442	c.433G>T	c.(433-435)Gcc>Tcc	p.A145S	TBX15_ENST00000207157.3_Missense_Mutation_p.A39S			Q96SF7	TBX15_HUMAN	T-box 15	145						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACTCTCATGGCAGGAAACATC	0.403000													7	43					2.74318e-10	5.82427e-09	0.000442599	1	0
CCDC141	285025	broad.mit.edu	37	2	179730496	179730496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:179730496C>T	ENST00000420890.2	-	17	2839	c.2722G>A	c.(2722-2724)Gag>Aag	p.E908K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E333K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	333							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACACCCACCTCATTTATCTCG	0.522000													92	194					0	0	0.000147903	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905881	144905881	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:144905881C>T	ENST00000370490.1	+	1	6193	c.1938C>T	c.(1936-1938)cgC>cgT	p.R646R	SLITRK2_ENST00000434188.2_Silent_p.R646R|SLITRK2_ENST00000413937.2_Silent_p.R646R|SLITRK2_ENST00000428560.2_Silent_p.R646R|SLITRK2_ENST00000447897.2_Silent_p.R646R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	646						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGAAACGCCGAAAGGGAG	0.428000													27	88					0	0	0.000184323	0	0
NOX1	27035	broad.mit.edu	37	X	100125713	100125713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:100125713G>A	ENST00000372966.3	-	2	341	c.136C>T	c.(136-138)Ctt>Ttt	p.L46F	NOX1_ENST00000372960.4_Missense_Mutation_p.L46F|NOX1_ENST00000372964.1_Missense_Mutation_p.L46F|NOX1_ENST00000217885.5_Missense_Mutation_p.L46F	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	46					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CTCACCCCAAGGATTTTTCTT	0.423000													55	99					0	0	0.000147903	0	0
CACTIN	58509	broad.mit.edu	37	19	3611986	3611986	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:3611986A>G	ENST00000429344.2	-	10	2264	c.2212T>C	c.(2212-2214)Tgc>Cgc	p.C738R	CACTIN_ENST00000248420.5_Missense_Mutation_p.C738R|CACTIN_ENST00000221899.3_Missense_Mutation_p.C670R|CACTIN-AS1_ENST00000592274.1_RNA	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		GCAAACTGGCAGCGGAAGCCG	0.637000													30	25					0	0	0.000279167	0	0
GCSAML	148823	broad.mit.edu	37	1	247712498	247712498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:247712498G>A	ENST00000366491.2	+	4	502	c.5G>A	c.(4-6)gGa>gAa	p.G2E	GCSAML_ENST00000366488.4_Missense_Mutation_p.G2E|GCSAML_ENST00000366490.3_Missense_Mutation_p.E123K|GCSAML_ENST00000366489.1_Missense_Mutation_p.G2E|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000536561.1_Missense_Mutation_p.G2E					germinal center-associated, signaling and motility-like																		GAAAAGATGGGAAATTATCTC	0.483000													8	35					0	0	3.86212e-05	0	0
CHMP4B	128866	broad.mit.edu	37	20	32436418	32436418	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr20:32436418C>T	ENST00000217402.2	+	2	501	c.336C>T	c.(334-336)gcC>gcT	p.A112A		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	112					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TGGGCTATGCCGCCAAGGCCA	0.612000													12	37					0	0	0.000151284	0	0
RSBN1	54665	broad.mit.edu	37	1	114309021	114309021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:114309021G>A	ENST00000261441.5	-	7	2053	c.1990C>T	c.(1990-1992)Cgt>Tgt	p.R664C	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	664						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAGCATAACGAATGCCTTCC	0.393000													59	35					0	0	0.000147903	0	0
PCLO	27445	broad.mit.edu	37	7	82584826	82584826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:82584826G>A	ENST00000423517.2	-	5	5780	c.5443C>T	c.(5443-5445)Cga>Tga	p.R1815*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.R1815*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1746					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						CTCTGAGCTCGAAGTTCATCT	0.403000													70	103					0	0	0.000147903	0	0
SDC2	6383	broad.mit.edu	37	8	97621634	97621634	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:97621634T>C	ENST00000302190.4	+	5	1385	c.464T>C	c.(463-465)aTt>aCt	p.I155T	SDC2_ENST00000522911.1_Missense_Mutation_p.I126T|SDC2_ENST00000518385.1_Missense_Mutation_p.I119T|SDC2_ENST00000519914.1_Missense_Mutation_p.I126T	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	155						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GGTGGAGTTATTGGCTTTCTC	0.403000													37	86					0	0	0.000147903	0	0
CRB1	23418	broad.mit.edu	37	1	197396583	197396583	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:197396583G>A	ENST00000367397.1	+	3	1129		c.e3-1		CRB1_ENST00000367400.3_Splice_Site|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000543483.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGACATTGAAGAGTATGTGGC	0.413000													11	55					0	0	0.000219431	0	0
SDK1	221935	broad.mit.edu	37	7	4116640	4116640	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:4116640C>T	ENST00000404826.2	+	21	3160	c.3021C>T	c.(3019-3021)atC>atT	p.I1007I	SDK1_ENST00000389531.3_Silent_p.I1007I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1007	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTATCAGATCTCTTGGGAAG	0.552000													5	17					0	0	1.23904e-05	0	0
C6	729	broad.mit.edu	37	5	41149459	41149459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:41149459G>A	ENST00000263413.3	-	17	2771	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	C6_ENST00000337836.5_Missense_Mutation_p.S836F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	836	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTCTTGGCAGGAACCAATATG	0.423000													57	89					0	0	0.000147903	0	0
SPON1	10418	broad.mit.edu	37	11	14284396	14284396	+	RNA	SNP	G	G	A	rs148033537	by1000genomes	TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:14284396G>A	ENST00000310358.7	+	0	2670				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ACTGTGCAGCGAAAAAAGTGC	0.547000													18	10					0	0	7.07596e-05	0	0
ELMOD1	55531	broad.mit.edu	37	11	107501439	107501439	+	Silent	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:107501439G>A	ENST00000265840.7	+	4	442	c.177G>A	c.(175-177)agG>agA	p.R59R	ELMOD1_ENST00000443271.2_Silent_p.R59R|ELMOD1_ENST00000531234.1_Silent_p.R53R	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	59					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CATCACTGAGGGATTCTAAAA	0.308000													13	20					0	0	0.000566183	0	0
FANCD2	2177	broad.mit.edu	37	3	10089677	10089677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:10089677C>T	ENST00000287647.3	+	16	1448	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	FANCD2_ENST00000383807.1_Missense_Mutation_p.S452L|FANCD2_ENST00000383806.1_Missense_Mutation_p.S452L|FANCD2_ENST00000419585.1_Missense_Mutation_p.S452L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	452					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGTATAATTTCATTTGGCAGT	0.403000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				43	180					0	0	0.000589545	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964165	37964165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr22:37964165C>T	ENST00000249014.4	+	3	934	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	172					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CTCGGAAAAGCCGCATGACCG	0.642000													23	65					0	0	0.00047179	0	0
KLHL35	283212	broad.mit.edu	37	11	75134908	75134908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:75134908G>A	ENST00000539798.1	-	5	1390	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	KLHL35_ENST00000376292.4_Missense_Mutation_p.P244L	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	244										lung(2)|stomach(1)	3						GTCCTCCTTGGGGTCAAAGCA	0.637000													10	14					0	0	0.000442599	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212168	26212168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:26212168C>T	ENST00000379034.1	+	2	354	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	69	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGGAGTGTCACCCACTGGGTC	0.532000													32	57					0	0	0.000339439	0	0
TRIM36	55521	broad.mit.edu	37	5	114473250	114473250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:114473250C>T	ENST00000513154.1	-	6	1221	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	TRIM36_ENST00000514154.1_Missense_Mutation_p.E156K|TRIM36_ENST00000282369.3_Missense_Mutation_p.E311K			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	311						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTCCTCTCTTCCAGAACTTCA	0.348000													58	47					0	0	0.000147903	0	0
SIAH3	283514	broad.mit.edu	37	13	46357566	46357566	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr13:46357566C>T	ENST00000400405.2	-	2	868	c.762G>A	c.(760-762)ggG>ggA	p.G254G		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	254					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TGATGGCAATCCCAATGGCAA	0.602000													37	77					0	0	0.000191422	0	0
OR2M3	127062	broad.mit.edu	37	1	248366638	248366638	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:248366638A>C	ENST00000456743.1	+	1	307	c.269A>C	c.(268-270)aAg>aCg	p.K90T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGGCAGCAAGTCCATTTCT	0.502000													9	201					0	0	0.000442599	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797875	148797875	+	Silent	SNP	C	C	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:148797875C>T	ENST00000355220.5	+	5	831	c.729C>T	c.(727-729)atC>atT	p.I243I	MAGEA11_ENST00000333104.4_Silent_p.I214I	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	243	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGGGCTGATCACAAAGGCAG	0.423000													56	101					0	0	0.000147903	0	0
LINC00518	221718	broad.mit.edu	37	6	10430699	10430701	+	RNA	DEL	TTT	TTT	-	rs79230388		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:10430699_10430701delTTT	ENST00000496285.1	-	0	489					NR_027793.1																						CTCTGACTAGttttttttttttt	0.448													3	5	---	---	---	---					
SOX4	6659	broad.mit.edu	37	6	21595267	21595269	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:21595267_21595269delGGC	ENST00000244745.1	+	1	1296_1298	c.502_504delGGC	c.(502-504)del	p.G173del	SOX4_ENST00000543472.1_In_Frame_Del_p.G173del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	173					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			cggccatgggggcggcggcggcg	0.739													2	4	---	---	---	---					
YWHAEP7	284100	broad.mit.edu	37	17	36214141	36214141	+	RNA	DEL	A	A	-	rs76035088		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:36214141delA	ENST00000590732.1	-	0	325					NR_024178.1																						CAGCaaaattaaaaaaaaaaa	0.328													2	4	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73043137	73043140	+	RNA	DEL	TTTC	TTTC	-			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:73043137_73043140delTTTC	ENST00000604411.1	+	0	31098_31101				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AACTTGCAtttttctttctttttt	0.348													2	4	---	---	---	---					
