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
RAB9B	51209	broad.mit.edu	37	X	103080666	103080666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:103080666C>A	ENST00000243298.2	-	3	333	c.49G>T	c.(49-51)Gga>Tga	p.G17*		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	17					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	p.G17*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						TTCCCAACTCCACCATCACCC	0.433000													69	170					7.577e-32	1.36845e-31	0.014410	1	0
PKN2	5586	broad.mit.edu	37	1	89270578	89270578	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:89270578A>G	ENST00000370521.3	+	10	1834	c.1475A>G	c.(1474-1476)cAa>cGa	p.Q492R	PKN2_ENST00000370513.5_Missense_Mutation_p.Q444R|PKN2_ENST00000316005.7_Missense_Mutation_p.Q492R|PKN2_ENST00000544045.1_Missense_Mutation_p.Q166R|PKN2_ENST00000370505.3_Missense_Mutation_p.Q335R	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	492					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	p.Q492R(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CTTCAAAGACAAAAGAAAATT	0.264000													13	35					0	0	0.013537	0	0
CSMD1	64478	broad.mit.edu	37	8	4851865	4851865	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:4851865G>A	ENST00000520002.1	-	1	629	c.74C>T	c.(73-75)aCt>aTt	p.T25I	CSMD1_ENST00000539096.1_Missense_Mutation_p.T25I|CSMD1_ENST00000602557.1_Missense_Mutation_p.T25I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T25I|CSMD1_ENST00000400186.3_Missense_Mutation_p.T25I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T25I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T25I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	25						integral to membrane		p.T25I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTCGCTGCAGTGAGGAGCCT	0.657000													10	33					0	0	0.008291	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661726	113661726	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:113661726G>T	ENST00000393544.2	+	0	1774																											TCCTATCTAGGGTCTCCTCAG	0.532000													8	26					5.4927e-09	7.34002e-09	0.004482	1	0
ARHGEF5	7984	broad.mit.edu	37	7	144062360	144062360	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:144062360G>T	ENST00000056217.5	+	2	2772	c.2598G>T	c.(2596-2598)cgG>cgT	p.R866R		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	866					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.R866R(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGAGCACTCGGGGAGGACATA	0.612000													13	122					6.72482e-11	9.45282e-11	0.003163	1	0
GPR101	83550	broad.mit.edu	37	X	136112642	136112642	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:136112642C>G	ENST00000298110.1	-	1	1191	c.1192G>C	c.(1192-1194)Gct>Cct	p.A398P		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	398						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A398P(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ATCACTTTAGCAGCTTTGCAC	0.552000													35	70					0	0	0.013726	0	0
DIO2	1734	broad.mit.edu	37	14	80677806	80677806	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr14:80677806G>T	ENST00000557010.1	-	3	395	c.10C>A	c.(10-12)Ctc>Atc	p.L4I	DIO2_ENST00000422005.3_Missense_Mutation_p.L4I|DIO2_ENST00000438257.4_Missense_Mutation_p.L4I|DIO2_ENST00000555750.1_Missense_Mutation_p.L4I|DIO2_ENST00000557125.1_Missense_Mutation_p.L4I|DIO2-AS1_ENST00000553979.1_RNA	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	4					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.L4I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCTACGCTGAGGATGCCCATC	0.522000													6	12					0.00198382	0.00223086	0.001984	1	0
HRNR	388697	broad.mit.edu	37	1	152188100	152188100	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:152188100C>G	ENST00000368801.2	-	3	6080	c.6005G>C	c.(6004-6006)gGc>gCc	p.G2002A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2002					keratinization		calcium ion binding|protein binding	p.G2002A(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTAGCCAGAGGACTG	0.567000													105	1523					0	0	0.007835	0	0
TPH2	121278	broad.mit.edu	37	12	72335413	72335413	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:72335413G>A	ENST00000333850.3	+	2	296	c.155G>A	c.(154-156)aGc>aAc	p.S52N	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	52					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.S52N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AACAAGGGAAGCAGCAAACGT	0.413000													13	43					0	0	0.001855	0	0
XPA	7507	broad.mit.edu	37	9	100455996	100455996	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr9:100455996C>T	ENST00000375128.4	-	2	282	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	73	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	p.G73E(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				AATGAAGCCTCCTCCTGTGTC	0.353000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				15	57					0	0	0.003163	0	0
OR2C3	81472	broad.mit.edu	37	1	247695027	247695027	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:247695027G>T	ENST00000366487.3	-	2	1148	c.787C>A	c.(787-789)Cca>Aca	p.P263T	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P262T(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTCTTGGCTGGCTGGAGATAC	0.527000													27	103					1.66031e-10	2.30126e-10	0.003954	1	0
DIO2	1734	broad.mit.edu	37	14	80677807	80677807	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr14:80677807G>T	ENST00000557010.1	-	3	394	c.9C>A	c.(7-9)atC>atA	p.I3I	DIO2_ENST00000422005.3_Silent_p.I3I|DIO2_ENST00000438257.4_Silent_p.I3I|DIO2_ENST00000555750.1_Silent_p.I3I|DIO2_ENST00000557125.1_Silent_p.I3I|DIO2-AS1_ENST00000553979.1_RNA	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	3					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.L4I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTACGCTGAGGATGCCCATCT	0.522000													6	11					0.00198382	0.00223086	0.001984	1	0
KCNV1	27012	broad.mit.edu	37	8	110986332	110986332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:110986332G>T	ENST00000524391.1	-	2	1318	c.286C>A	c.(286-288)Ccc>Acc	p.P96T	KCNV1_ENST00000297404.1_Missense_Mutation_p.P96T|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	96						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.P96T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTGTCCACGGGGTTGGCATCG	0.672000													6	21					0.000157383	0.000183922	0.003080	1	0
ABR	29	broad.mit.edu	37	17	1003898	1003898	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr17:1003898G>C	ENST00000544583.2	-	3	785	c.186C>G	c.(184-186)aaC>aaG	p.N62K	ABR_ENST00000574437.1_Missense_Mutation_p.N62K|ABR_ENST00000302538.5_Missense_Mutation_p.N108K|ABR_ENST00000291107.2_Missense_Mutation_p.N71K	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	108					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.N108K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTTCCAGCTGGTTAATGTAGA	0.582000													11	108					0	0	0.010729	0	0
FAM135B	51059	broad.mit.edu	37	8	139263221	139263221	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:139263221G>T	ENST00000395297.1	-	6	575	c.405C>A	c.(403-405)agC>agA	p.S135R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	135								p.S135R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAGCGTTCGGCTGCTGACCA	0.592000										HNSCC(54;0.14)			39	113					6.2361e-21	1.06802e-20	0.007835	1	0
SNX10	29887	broad.mit.edu	37	7	26400636	26400636	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:26400636G>T	ENST00000338523.4	+	3	253	c.66G>T	c.(64-66)aaG>aaT	p.K22N	SNX10_ENST00000396376.1_Missense_Mutation_p.K22N|SNX10_ENST00000446848.2_Missense_Mutation_p.K48N|SNX10_ENST00000409367.1_5'UTR	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	22	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	p.K22N(1)		endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GGATTCAGAAGGAGGACTTCT	0.358000													13	65					2.32078e-09	3.12938e-09	0.003163	1	0
NLRP13	126204	broad.mit.edu	37	19	56423822	56423822	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:56423822C>A	ENST00000588751.1	-	5	1385	c.1361G>T	c.(1360-1362)aGt>aTt	p.S454I	NLRP13_ENST00000342929.3_Missense_Mutation_p.S454I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	454	NACHT.						ATP binding	p.S454I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGCATACAGACTGGTGGTAGT	0.527000													43	125					6.21074e-16	1.01137e-15	0.011902	1	0
USP38	84640	broad.mit.edu	37	4	144124648	144124648	+	Silent	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:144124648T>C	ENST00000307017.4	+	5	1644	c.1138T>C	c.(1138-1140)Ttg>Ctg	p.L380L	USP38_ENST00000510377.1_Silent_p.L380L	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	380					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.L380L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATTAACAGAATTGATACACTG	0.333000													32	63					0	0	0.013726	0	0
OTOGL	283310	broad.mit.edu	37	12	80623041	80623041	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:80623041A>G	ENST00000458043.2	+	7	473	c.467A>G	c.(466-468)cAt>cGt	p.H156R	OTOGL_ENST00000547103.1_Missense_Mutation_p.H156R	NM_173591.3	NP_775862.3			otogelin-like									p.H156R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTAAGGTTCATAACAGCCCT	0.318000													59	125					0	0	0.014410	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130649020	130649020	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr9:130649020T>C	ENST00000373146.1	-	7	1039	c.860A>G	c.(859-861)aAg>aGg	p.K287R	ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.K253R|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R286G|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.K287R|ST6GALNAC6_ENST00000485320.1_5'UTR|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.K87R|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.K253R			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	287					protein glycosylation	integral to Golgi membrane|plasma membrane		p.K287R(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCCGGCCCCTTGGGCTCGTA	0.632000													3	74					0	0	0.009096	0	0
FAT1	2195	broad.mit.edu	37	4	187628565	187628565	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:187628565C>T	ENST00000441802.2	-	2	2626	c.2417G>A	c.(2416-2418)cGt>cAt	p.R806H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	806	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.R806H(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGTAGAAGACGCCACGCAGC	0.443000										HNSCC(5;0.00058)			55	153					0	0	0.014410	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996498	143996498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:143996498C>T	ENST00000323110.2	-	3	561	c.559G>A	c.(559-561)Gac>Aac	p.D187N		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	187					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.D187N(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCTGGACGTCCAGGGTCAGG	0.642000									Familial Hyperaldosteronism type I				6	23					0	0	0.001168	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310721	61310721	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr18:61310721G>T	ENST00000341074.5	-	2	206	c.91C>A	c.(91-93)Cct>Act	p.P31T	SERPINB4_ENST00000356424.6_Missense_Mutation_p.P31T	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.P31T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ATGCTGATAGGGGAATAGAAG	0.423000													41	107					2.2871e-25	4.05687e-25	0.007835	1	0
OR4D5	219875	broad.mit.edu	37	11	123810710	123810710	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:123810710C>A	ENST00000307033.2	+	1	461	c.387C>A	c.(385-387)ccC>ccA	p.P129P		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P129P(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTTCCCAGCCCCTGCACTACA	0.507000													33	103					5.43694e-19	9.22281e-19	0.005524	1	0
IBTK	25998	broad.mit.edu	37	6	82936912	82936912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr6:82936912G>T	ENST00000306270.7	-	5	1200	c.651C>A	c.(649-651)tgC>tgA	p.C217*	IBTK_ENST00000510291.1_Nonsense_Mutation_p.C217*|IBTK_ENST00000503631.1_Nonsense_Mutation_p.C217*	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	217					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	p.C217*(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CAATTACCAAGCATGTCTGTT	0.358000													22	62					7.87624e-14	1.23533e-13	0.002780	1	0
TNC	3371	broad.mit.edu	37	9	117810558	117810558	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr9:117810558C>G	ENST00000350763.4	-	16	5244	c.4833G>C	c.(4831-4833)ttG>ttC	p.L1611F	TNC_ENST00000340094.3_Missense_Mutation_p.L1247F|TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1611	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.L1611F(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTCAGCCCTCAAGGGCTTGG	0.493000													5	194					0	0	0.001168	0	0
WWC3	55841	broad.mit.edu	37	X	10093091	10093091	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:10093091C>A	ENST00000380861.4	+	14	2245	c.1854C>A	c.(1852-1854)ctC>ctA	p.L618L	WWC3_ENST00000454666.1_Silent_p.L618L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	618	C2.							p.L618L(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGTGTCTCCTCGTGCACGTGC	0.622000													8	17					2.74318e-10	3.76713e-10	0.006214	1	0
C1orf173	127254	broad.mit.edu	37	1	75097536	75097536	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:75097536A>C	ENST00000326665.5	-	7	898	c.680T>G	c.(679-681)aTt>aGt	p.I227S	C1orf173_ENST00000420661.2_Missense_Mutation_p.I30S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	227								p.I227S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTAACTGTTAATGTTTGGAAG	0.398000													38	63					0	0	0.004289	0	0
EDA	1896	broad.mit.edu	37	X	69255353	69255353	+	Missense_Mutation	SNP	G	G	T	rs61747506		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:69255353G>T	ENST00000374552.4	+	8	1312	c.1070G>T	c.(1069-1071)cGg>cTg	p.R357L	EDA_ENST00000524573.1_Missense_Mutation_p.R352L|EDA_ENST00000374553.2_Missense_Mutation_p.R355L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	357			R -> P (in ED1).		cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	p.R357L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTCAAGGCCCGGCAGAAGATC	0.582000													17	55					3.45872e-05	4.15604e-05	0.004007	1	0
OR6N1	128372	broad.mit.edu	37	1	158736422	158736422	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:158736422G>T	ENST00000335094.2	-	1	70	c.51C>A	c.(49-51)ttC>ttA	p.F17L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F17L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGAGATGGGGGAAGCCCAAGA	0.483000													14	43					1.52009e-12	2.25367e-12	0.003163	1	0
ACSM5	54988	broad.mit.edu	37	16	20435240	20435240	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr16:20435240G>T	ENST00000331849.4	+	6	917	c.770G>T	c.(769-771)cGg>cTg	p.R257L		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	257					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R257L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTTGGCAGACGGTGGGTGGCC	0.483000													44	160					4.53413e-08	5.95229e-08	0.013114	1	0
ARC	23237	broad.mit.edu	37	8	143695608	143695608	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:143695608C>A	ENST00000356613.2	-	1	1225	c.25G>T	c.(25-27)Ggc>Tgc	p.G9C		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	9					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		p.G9F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGGAGCCCGCCGCTGGTCCGG	0.736000													7	14					0.00307968	0.00341169	0.003080	1	0
TTN	7273	broad.mit.edu	37	2	179648491	179648491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:179648491G>T	ENST00000589042.1	-	17	3021	c.2797C>A	c.(2797-2799)Cca>Aca	p.P933T	TTN_ENST00000460472.2_Missense_Mutation_p.P887T|TTN_ENST00000591111.1_Missense_Mutation_p.P933T|TTN_ENST00000360870.5_Missense_Mutation_p.P933T|TTN_ENST00000359218.5_Missense_Mutation_p.P887T|TTN_ENST00000342175.6_Missense_Mutation_p.P887T|TTN_ENST00000342992.6_Missense_Mutation_p.P933T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	933							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P887T(3)|p.P933T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGGTGCTGGTACTCTTGCT	0.348000													22	83					7.92952e-12	1.15268e-11	0.003954	1	0
GUCY2F	2986	broad.mit.edu	37	X	108684589	108684589	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:108684589C>A	ENST00000218006.2	-	7	1983	c.1692G>T	c.(1690-1692)gcG>gcT	p.A564A		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	564	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.A564A(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCTCATAAATCGCTATGTTGG	0.403000													88	172					3.7744e-50	7.3037e-50	0.014410	1	0
RIMS2	9699	broad.mit.edu	37	8	105025815	105025815	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:105025815G>C	ENST00000507740.1	+	16	2868	c.2632G>C	c.(2632-2634)Gga>Cga	p.G878R	RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Missense_Mutation_p.G903R|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1064R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1126	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G878R(2)|p.G1131R(1)|p.G1064R(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAATGACTGGAAGATCTGC	0.488000										HNSCC(12;0.0054)			29	63					0	0	0.009535	0	0
SEMA3D	223117	broad.mit.edu	37	7	84666213	84666213	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:84666213G>C	ENST00000284136.6	-	10	1226	c.1183C>G	c.(1183-1185)Cct>Gct	p.P395A	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	395	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.P395A(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ACTGTACCAGGCCGTGGATAA	0.363000													16	51					0	0	0.004007	0	0
MAP1B	4131	broad.mit.edu	37	5	71490202	71490202	+	Silent	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:71490202C>T	ENST00000296755.7	+	5	1318	c.1020C>T	c.(1018-1020)acC>acT	p.T340T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	340						microtubule|microtubule associated complex	structural molecule activity	p.T340T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGGCTCCACCACAAATAGTG	0.448000													20	45					0	0	0.008871	0	0
C5	727	broad.mit.edu	37	9	123783854	123783854	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr9:123783854C>A	ENST00000223642.1	-	11	1264	c.1235G>T	c.(1234-1236)cGt>cTt	p.R412L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	412					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.R412L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ATCATCAACACGTGTTACACT	0.433000													19	59					1.96292e-10	2.70811e-10	0.010504	1	0
OR8S1	341568	broad.mit.edu	37	12	48921695	48921695	+	Splice_Site	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:48921695G>A	ENST00000310194.1	+	2	889	c.888_splice	c.e2-1	p.G297_splice	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G297R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTGTTACAAGGGGGAAAGAAG	0.468000													19	45					0	0	0.008871	0	0
CHST8	64377	broad.mit.edu	37	19	34263296	34263296	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:34263296C>A	ENST00000262622.3	+	4	1361	c.603C>A	c.(601-603)ggC>ggA	p.G201G	CHST8_ENST00000438847.2_Silent_p.G201G|CHST8_ENST00000434302.1_Silent_p.G201G	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	201					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.G201G(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAAGGCCGGCTGCTCCAATT	0.687000													6	94					5.18039e-06	6.40563e-06	0.003080	1	0
CWH43	80157	broad.mit.edu	37	4	49005982	49005982	+	Missense_Mutation	SNP	G	G	T	rs139364544		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:49005982G>T	ENST00000226432.4	+	7	1216	c.1033G>T	c.(1033-1035)Gct>Tct	p.A345S	CWH43_ENST00000513409.1_Missense_Mutation_p.A318S	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	345					GPI anchor biosynthetic process	integral to membrane		p.A345S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGGTGTCTACGCTAGAGAAAG	0.393000													9	23					0.000442599	0.000507287	0.006214	1	0
FOXS1	2307	broad.mit.edu	37	20	30433325	30433325	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr20:30433325G>A	ENST00000375978.3	-	1	95	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	7					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P7P(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGCCAGGCCCGGGCAGAGGCT	0.682000													26	44					0	0	0.006320	0	0
NFKBID	84807	broad.mit.edu	37	19	36387872	36387872	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:36387872G>A	ENST00000396901.1	-	5	668	c.95C>T	c.(94-96)gCt>gTt	p.A32V	NFKBID_ENST00000352614.2_Missense_Mutation_p.A184V|NFKBID_ENST00000606253.1_Missense_Mutation_p.A32V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	32					inflammatory response	nucleus		p.A32V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CAGCATGTGAGCTCGGGCCAC	0.622000													24	86					0	0	0.014323	0	0
GFRA1	2674	broad.mit.edu	37	10	118029077	118029077	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:118029077G>T	ENST00000439649.3	-	4	723	c.356C>A	c.(355-357)tCc>tAc	p.S119Y	GFRA1_ENST00000355422.6_Missense_Mutation_p.S119Y|GFRA1_ENST00000369236.1_Missense_Mutation_p.S119Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	119					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.S119Y(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TTCATATGGGGAATCCTCCAG	0.393000													9	29					7.48243e-07	9.40829e-07	0.006214	1	0
MUC16	94025	broad.mit.edu	37	19	9091467	9091467	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:9091467G>T	ENST00000397910.4	-	1	551	c.348C>A	c.(346-348)aaC>aaA	p.N116K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	116	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.N116K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCAGGGTAGTTCCTAGAGG	0.502000													73	54					3.12118e-38	5.81321e-38	0.014410	1	0
ACTR1A	10121	broad.mit.edu	37	10	104244124	104244124	+	Silent	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:104244124T>A	ENST00000369905.4	-	6	513	c.450A>T	c.(448-450)acA>acT	p.T150T	ACTR1A_ENST00000487599.1_Silent_p.T150T|ACTR1A_ENST00000446605.2_Silent_p.T103T|ACTR1A_ENST00000545684.1_Silent_p.T76T	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	150					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding	p.T150T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGGTCCTGCCTGTAGCGTAAC	0.537000													9	20					0	0	0.006214	0	0
FAM208B	54906	broad.mit.edu	37	10	5782228	5782228	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:5782228C>T	ENST00000328090.5	+	13	2720	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	699								p.R699W(1)									CATGCCATTTCGGCATCAGCC	0.532000													6	76					0	0	0.003080	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589383	140589383	+	Missense_Mutation	SNP	A	A	T	rs147813756		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:140589383A>T	ENST00000239450.2	+	1	1093	c.904A>T	c.(904-906)Act>Tct	p.T302S	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		302	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T302S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGACATTACTTTAACAGC	0.368000													38	83					0	0	0.003755	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630545	51630545	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:51630545C>A	ENST00000440804.3	+	4	1074	c.1007C>A	c.(1006-1008)tCc>tAc	p.S336Y	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.S336Y	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	336	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.S336Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTGAACGTCTCCCTGCAGAGT	0.597000													4	9					0.00909568	0.00975005	0.009096	1	0
TEX13A	56157	broad.mit.edu	37	X	104463890	104463890	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:104463890G>T	ENST00000372578.3	-	3	1099	c.988C>A	c.(988-990)Cgc>Agc	p.R330S	TEX13A_ENST00000372575.1_Missense_Mutation_p.R330S|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.P329Q|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAGCTGAGGCGGAACTGGTGC	0.542000													26	60					6.12954e-19	1.03198e-18	0.004656	1	0
FCGBP	8857	broad.mit.edu	37	19	40433188	40433188	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:40433188C>T	ENST00000221347.6	-	2	1088	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	361	IgGFc-binding.					extracellular region	protein binding	p.V361M(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCTGTGCCACTACCAGGGCC	0.607000													9	46					0	0	0.006214	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505453	44505453	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr20:44505453G>A	ENST00000255152.2	+	2	465	c.256G>A	c.(256-258)Gag>Aag	p.E86K	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.E80K	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	86							zinc ion binding	p.E86K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AAGGTACAACGAGAGACTAGA	0.473000													19	101					0	0	0.008871	0	0
LAMB1	3912	broad.mit.edu	37	7	107600230	107600230	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:107600230G>T	ENST00000393561.1	-	17	2620	c.2436C>A	c.(2434-2436)aaC>aaA	p.N812K	LAMB1_ENST00000222399.6_Missense_Mutation_p.N788K|LAMB1_ENST00000393560.1_Missense_Mutation_p.N788K			P07942	LAMB1_HUMAN	laminin, beta 1	788	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.N788N(1)|p.N788K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGGCCTCCGTTGGGATCAC	0.562000													11	20					1.05317e-09	1.42657e-09	0.002450	1	0
ALK	238	broad.mit.edu	37	2	29455189	29455189	+	Missense_Mutation	SNP	G	G	T	rs150557024	byFrequency	TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:29455189G>T	ENST00000389048.3	-	15	3519	c.2613C>A	c.(2611-2613)aaC>aaA	p.N871K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	871	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.N871K(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CGGAATTGCCGTTTAGCCCTA	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	49					9.39395e-14	1.46565e-13	0.006320	1	0
CACNA1C	775	broad.mit.edu	37	12	2797830	2797830	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:2797830G>A	ENST00000399655.1	+	46	6267	c.6002G>A	c.(6001-6003)gGt>gAt	p.G2001D	CACNA1C_ENST00000399595.1_Missense_Mutation_p.G2009D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G2036D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G2072D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G2029D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G2001D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G2072D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G2020D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G2026D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G2020D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G2001D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G2007D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G2001D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G2018D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G2049D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G2001D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G2021D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G2042D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G2020D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G2001D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G2036D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G2009D	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2084					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.G2036D(1)|p.G1536D(1)|p.G2049D(1)|p.G2114D(1)|p.G2042D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACCACCCCCGGTGGCGGGGGC	0.711000													11	25					0	0	0.010729	0	0
RIMS2	9699	broad.mit.edu	37	8	104930687	104930687	+	Silent	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:104930687T>C	ENST00000507740.1	+	7	1715	c.1479T>C	c.(1477-1479)ccT>ccC	p.P493P	RIMS2_ENST00000436393.2_Silent_p.P463P|RIMS2_ENST00000262231.10_Silent_p.P540P|RIMS2_ENST00000406091.3_Silent_p.P685P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	763					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P493P(2)|p.P685P(1)|p.P768P(1)|p.P463P(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCGAATACCTGATAGCACAC	0.294000										HNSCC(12;0.0054)			3	87					0	0	0.009096	0	0
ENOX1	55068	broad.mit.edu	37	13	43930271	43930271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr13:43930271C>A	ENST00000261488.6	-	8	1184	c.607G>T	c.(607-609)Ggg>Tgg	p.G203W	ENOX1_ENST00000412891.1_Missense_Mutation_p.G203W|ENOX1_ENST00000540032.1_Missense_Mutation_p.G16W	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	203	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.G203W(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTGCTAGACCCTAATCGCATC	0.502000													10	33					0.000673444	0.000765978	0.008291	1	0
COL11A1	1301	broad.mit.edu	37	1	103364517	103364517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:103364517G>A	ENST00000358392.2	-	55	4473	c.4156C>T	c.(4156-4158)Caa>Taa	p.Q1386*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q1258*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1335*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q1374*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1374	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.Q1374*(1)|p.Q1386*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTCACCTTGTCTTCCCTCT	0.269000													8	35					0	0	0.003080	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529326	102529326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:102529326C>A	ENST00000372680.1	-	3	460	c.166G>T	c.(166-168)Gat>Tat	p.D56Y		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	56	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.D56Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						tctccctcatcctctcgcttt	0.522000													26	91					6.32553e-13	9.56857e-13	0.004656	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454347	84454347	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr13:84454347G>T	ENST00000377084.2	-	1	2181	c.1296C>A	c.(1294-1296)agC>agA	p.S432R		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	432						integral to membrane		p.S432R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAGGTAATTGCTATCCATGT	0.498000													39	112					3.78316e-11	5.39417e-11	0.006230	1	0
EFCAB6	64800	broad.mit.edu	37	22	43986047	43986047	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr22:43986047T>G	ENST00000262726.7	-	24	3192	c.2939A>C	c.(2938-2940)aAa>aCa	p.K980T	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K828T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	980	EF-hand 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.K980T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTAGTTGGTTTTGGATTGATC	0.428000													3	97					0	0	0.009096	0	0
SLC2A9	56606	broad.mit.edu	37	4	9998467	9998467	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:9998467T>C	ENST00000506583.1	-	5	478	c.261A>G	c.(259-261)atA>atG	p.I87M	SLC2A9_ENST00000264784.3_Missense_Mutation_p.I116M|SLC2A9_ENST00000309065.3_Missense_Mutation_p.I87M			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	116					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.I116M(1)|p.I87M(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CGATGGCGAATATGGACACAG	0.498000													14	43					0	0	0.006122	0	0
CGA	1081	broad.mit.edu	37	6	87795485	87795485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr6:87795485G>T	ENST00000369582.2	-	4	440	c.340C>A	c.(340-342)Cac>Aac	p.H114N		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	114					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.H114N(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TAAGATTTGTGATAATAACAA	0.368000													9	14					2.17888e-05	2.62877e-05	0.006214	1	0
MOV10L1	54456	broad.mit.edu	37	22	50547205	50547205	+	Silent	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr22:50547205A>T	ENST00000262794.5	+	5	758	c.675A>T	c.(673-675)gcA>gcT	p.A225A	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.A225A|MOV10L1_ENST00000545383.1_Silent_p.A225A|MOV10L1_ENST00000540615.1_Silent_p.A205A	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	225					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.A225A(1)|p.A205A(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGTCAATGCAGTGGTGGTGG	0.532000													25	67					0	0	0.003954	0	0
MYOM2	9172	broad.mit.edu	37	8	2044147	2044147	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:2044147T>A	ENST00000262113.4	+	18	2327	c.2186T>A	c.(2185-2187)cTc>cAc	p.L729H	MYOM2_ENST00000523438.1_Missense_Mutation_p.L154H	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	729	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle	p.L729H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCATGACCCTCGGCTGGAAG	0.572000													25	76					0	0	0.003954	0	0
TMTC4	84899	broad.mit.edu	37	13	101308647	101308647	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr13:101308647C>A	ENST00000342624.5	-	6	886	c.628G>T	c.(628-630)Gca>Tca	p.A210S	TMTC4_ENST00000376234.3_Missense_Mutation_p.A191S|TMTC4_ENST00000328767.5_Missense_Mutation_p.A80S	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	191						integral to membrane	binding	p.A210S(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTCTAAATGCTTTACAGTAG	0.418000													20	29					1.28384e-07	1.63497e-07	0.012319	1	0
PREX1	57580	broad.mit.edu	37	20	47276591	47276591	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr20:47276591T>G	ENST00000396220.1	-	16	1769	c.1747A>C	c.(1747-1749)Aag>Cag	p.K583Q	PREX1_ENST00000371941.3_Missense_Mutation_p.K583Q			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	583	DEP 2.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.K583Q(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AACTCGCTCTTCTCCAGCACT	0.532000													3	90					0	0	0.004672	0	0
CNTN3	5067	broad.mit.edu	37	3	74414733	74414733	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr3:74414733G>C	ENST00000263665.6	-	8	1094	c.1067C>G	c.(1066-1068)gCa>gGa	p.A356G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	356	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.A356G(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CACCAGGGCTGCTCCATTTTT	0.483000													123	145					0	0	0.014410	0	0
KCNU1	157855	broad.mit.edu	37	8	36703176	36703176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:36703176G>T	ENST00000399881.3	+	17	1819	c.1782G>T	c.(1780-1782)aaG>aaT	p.K594N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	594						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.K594N(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACTCCAAAGGACGTCAGAA	0.408000													10	45					2.52707e-12	3.70969e-12	0.006214	1	0
BAHD1	22893	broad.mit.edu	37	15	40751953	40751953	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr15:40751953C>A	ENST00000561234.1	+	2	1549	c.1290C>A	c.(1288-1290)caC>caA	p.H430Q	BAHD1_ENST00000416165.1_Missense_Mutation_p.H430Q|BAHD1_ENST00000560846.1_Missense_Mutation_p.H430Q			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	430					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	p.P431fs*16(1)|p.H430Q(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTTTCCAGCACCCTCCCTGGG	0.627000													3	50					0.004672	0.00508123	0.004672	1	0
PRR15	222171	broad.mit.edu	37	7	29605982	29605982	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:29605982T>C	ENST00000319694.2	+	2	749	c.37T>C	c.(37-39)Tgg>Cgg	p.W13R		NM_175887.2	NP_787083.1	Q8IV56	PRR15_HUMAN	proline rich 15	13					multicellular organismal development			p.W13R(1)		endometrium(1)|lung(1)|skin(1)	3						CTCCGGCCCCTGGTGGAAATC	0.701000													6	17					0	0	0.004482	0	0
CHD6	84181	broad.mit.edu	37	20	40050551	40050551	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr20:40050551C>A	ENST00000373233.3	-	31	4901	c.4724G>T	c.(4723-4725)tGg>tTg	p.W1575L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1575					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.W1575L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCCACACTCCCACCAGACTGG	0.567000													11	35					3.86212e-05	4.58531e-05	0.008291	1	0
NXPE2	120406	broad.mit.edu	37	11	114569375	114569375	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:114569375C>A	ENST00000375475.5	+	3	839	c.741C>A	c.(739-741)gaC>gaA	p.D247E	NXPE2_ENST00000389586.4_Missense_Mutation_p.D247E					neurexophilin and PC-esterase domain family, member 2									p.D247E(2)									ACATGGATGACAGAGACCAAG	0.473000													15	40					6.72482e-11	9.45282e-11	0.003163	1	0
SIAH2	6478	broad.mit.edu	37	3	150460021	150460021	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr3:150460021G>A	ENST00000312960.3	-	2	1409	c.882C>T	c.(880-882)agC>agT	p.S294S		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	294	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.S294S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAAGGCAGTCGCTGTTCATGA	0.498000													25	20					0	0	0.003330	0	0
SLC25A42	284439	broad.mit.edu	37	19	19215725	19215725	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:19215725C>T	ENST00000318596.7	+	4	342	c.191C>T	c.(190-192)tCt>tTt	p.S64F	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	64					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.S64F(1)		cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TTTCCAGTGTCTTCAAAAAGA	0.557000													12	11					0	0	0.002450	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589621	67589621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:67589621G>T	ENST00000521381.1	+	11	2000	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*	PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.E462*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.E192*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.E99*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.E462*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.E462*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.E162*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	462					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.E162*(1)|p.E192*(1)|p.0?(1)|p.?(1)|p.E462*(1)|p.E462_R465delEYDR(1)|p.T454_D464del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAAAGTCGAGAATATGATAG	0.284000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			26	58					3.6726e-16	6.01338e-16	0.003954	1	0
ATP7A	538	broad.mit.edu	37	X	77289241	77289241	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:77289241G>C	ENST00000341514.6	+	17	3588	c.3433G>C	c.(3433-3435)Gca>Cca	p.A1145P	ATP7A_ENST00000343533.5_Missense_Mutation_p.A1067P|ATP7A_ENST00000350425.4_Missense_Mutation_p.A148P	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1145					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.A1145P(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TATTAAAAATGCATCCCTGGT	0.373000													44	106					0	0	0.009718	0	0
CPLX4	339302	broad.mit.edu	37	18	56963966	56963966	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr18:56963966G>T	ENST00000299721.3	-	3	633	c.447C>A	c.(445-447)atC>atA	p.I149I	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	149					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	p.I149I(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTGTCTGCTTGATTTCAGTGA	0.498000													13	44					1.5739e-10	2.19169e-10	0.004007	1	0
COL4A1	1282	broad.mit.edu	37	13	110817329	110817329	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr13:110817329C>A	ENST00000375820.4	-	46	4151	c.4030G>T	c.(4030-4032)Ggt>Tgt	p.G1344C		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1344	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.G1344C(1)|p.G987C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGAGGACCCGGGAGACCT	0.592000													6	24					4.096e-09	5.49823e-09	0.001168	1	0
CCKBR	887	broad.mit.edu	37	11	6292734	6292734	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:6292734G>C	ENST00000525462.1	+	4	1515	c.1512G>C	c.(1510-1512)agG>agC	p.R504S	CCKBR_ENST00000334619.2_Missense_Mutation_p.R435S|CCKBR_ENST00000532715.1_Missense_Mutation_p.R351S			P32239	GASR_HUMAN	cholecystokinin B receptor	435					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.R435S(1)|p.R504S(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGCTGTCCAGGCTTAGCTACA	0.637000													13	35					0	0	0.003163	0	0
VRTN	55237	broad.mit.edu	37	14	74825221	74825221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr14:74825221G>T	ENST00000256362.4	+	2	1976	c.1735G>T	c.(1735-1737)Gag>Tag	p.E579*		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	579					transposition, DNA-mediated		DNA binding|transposase activity	p.E579*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCAGGAGAAGGAGGCTGGCAG	0.642000													23	63					1.17739e-12	1.76313e-12	0.005443	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4657319	4657319	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:4657319T>G	ENST00000228843.9	+	6	482	c.432T>G	c.(430-432)aaT>aaG	p.N144K	RAD51AP1_ENST00000544927.1_Missense_Mutation_p.N127K|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.N144K|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.N127K|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.N9K	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	144					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	p.N127K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			ATATCTCTAATTGCAGTGTAG	0.274000													8	126					0	0	0.003080	0	0
OR4M2	390538	broad.mit.edu	37	15	22369024	22369024	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr15:22369024G>T	ENST00000332663.2	+	1	547	c.449G>T	c.(448-450)aGg>aTg	p.R150M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCTCCTGGAGGGGGGGCTTC	0.502000													54	493					4.13886e-29	7.38551e-29	0.014410	1	0
VIT	5212	broad.mit.edu	37	2	37035875	37035875	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:37035875G>T	ENST00000379242.3	+	15	1952	c.1650G>T	c.(1648-1650)ggG>ggT	p.G550G	VIT_ENST00000389975.3_Silent_p.G535G|VIT_ENST00000379241.3_Silent_p.G513G|VIT_ENST00000404084.1_Silent_p.G487G|VIT_ENST00000497382.1_Silent_p.G204G|VIT_ENST00000401530.1_Silent_p.G514G	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	535	VWFA 2.					proteinaceous extracellular matrix		p.G550G(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CGCGCATCGGGGCCGTGCAGT	0.582000													14	46					4.93089e-13	7.53541e-13	0.002450	1	0
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													4	6					0	0	0.009096	0	0
PNMA3	29944	broad.mit.edu	37	X	152226785	152226785	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:152226785C>T	ENST00000447306.1	+	2	1709	c.1373C>T	c.(1372-1374)cCc>cTc	p.P458L	PNMA3_ENST00000370264.4_Missense_Mutation_p.P458L|PNMA3_ENST00000370265.4_Intron	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	458					apoptosis	nucleolus	nucleic acid binding|zinc ion binding	p.P458L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGCCATCCCAAGTCCAAG	0.532000													64	112					0	0	0.014410	0	0
HEATR5B	54497	broad.mit.edu	37	2	37302722	37302722	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:37302722C>T	ENST00000233099.5	-	5	598	c.503G>A	c.(502-504)gGt>gAt	p.G168D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G168D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	168							binding	p.G168D(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGCTGCACCACCCAGTCCACT	0.413000													27	105					0	0	0.004656	0	0
STK11	6794	broad.mit.edu	37	19	1220640	1220640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:1220640C>T	ENST00000326873.7	+	5	1831	c.658C>T	c.(658-660)Cag>Tag	p.Q220*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	220	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Q220*(4)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCTTTCCAGCCGCCCGA	0.711000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			13	10					0	0	0.001855	0	0
ADD2	119	broad.mit.edu	37	2	70906010	70906010	+	Silent	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:70906010C>G	ENST00000264436.3	-	11	1653	c.1209G>C	c.(1207-1209)acG>acC	p.T403T	ADD2_ENST00000430656.1_Silent_p.T419T|ADD2_ENST00000407644.2_Silent_p.T403T|ADD2_ENST00000413157.2_Silent_p.T403T|ADD2_ENST00000355733.3_Silent_p.T403T	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	403					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.T403T(2)|p.T419T(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGCTGTGACCGTGGCTGGAA	0.542000													17	121					0	0	0.004007	0	0
ZMYM3	9203	broad.mit.edu	37	X	70464286	70464286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:70464286G>T	ENST00000373998.1	-	20	3807	c.3110C>A	c.(3109-3111)tCc>tAc	p.S1037Y	ZMYM3_ENST00000314425.5_Missense_Mutation_p.S1049Y|ZMYM3_ENST00000373988.1_Missense_Mutation_p.S1051Y|ZMYM3_ENST00000353904.2_Missense_Mutation_p.S1049Y|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S1051Y|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1049					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.S1049Y(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGAGTCCCGGGAGCAGCTTTC	0.537000													16	24					1.15088e-07	1.47194e-07	0.004007	1	0
LAP3	51056	broad.mit.edu	37	4	17590484	17590484	+	Silent	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:17590484C>T	ENST00000226299.4	+	7	1021	c.747C>T	c.(745-747)ctC>ctT	p.L249L	LAP3_ENST00000606142.1_Silent_p.L218L|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	249					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	p.L249L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GATCATTCCTCAGTGTGGCCA	0.443000													30	80					0	0	0.010818	0	0
CACNG5	27091	broad.mit.edu	37	17	64876776	64876776	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr17:64876776T>G	ENST00000533854.1	+	4	623	c.386T>G	c.(385-387)aTa>aGa	p.I129R	CACNG5_ENST00000169565.3_Missense_Mutation_p.I129R|CACNG5_ENST00000307139.3_Missense_Mutation_p.I129R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	129					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	p.I129R(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACCGGACGATACTGGCCTTT	0.438000													65	153					0	0	0.014410	0	0
MCRS1	10445	broad.mit.edu	37	12	49954103	49954103	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:49954103C>G	ENST00000550165.1	-	10	1122	c.856G>C	c.(856-858)Gac>Cac	p.D286H	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Missense_Mutation_p.D299H|MCRS1_ENST00000343810.4_Missense_Mutation_p.D286H|MCRS1_ENST00000546244.1_Missense_Mutation_p.D95H			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	286					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	p.D299H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TCAATCAGGTCCTCTGCATCA	0.577000													107	291					0	0	0.014410	0	0
ZNF423	23090	broad.mit.edu	37	16	49672667	49672667	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr16:49672667C>A	ENST00000561648.1	-	4	449	c.396G>T	c.(394-396)ggG>ggT	p.G132G	ZNF423_ENST00000262383.2_Silent_p.G132G|ZNF423_ENST00000535559.1_Silent_p.G15G|ZNF423_ENST00000562520.1_Silent_p.G72G|ZNF423_ENST00000567169.1_Silent_p.G15G|ZNF423_ENST00000563137.2_Silent_p.G72G|ZNF423_ENST00000562871.1_Silent_p.G72G	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	132					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G132G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCCCGTGCCCCCTTCCTCCT	0.607000													14	42					4.3838e-07	5.53548e-07	0.001855	1	0
ZNF678	339500	broad.mit.edu	37	1	227843491	227843491	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:227843491G>T	ENST00000343776.4	+	4	1885	c.1540G>T	c.(1540-1542)Gag>Tag	p.E514*	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.E569*			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	569					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E514*(1)|p.E569*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTATACTGGAGAGGAACCTGA	0.323000													15	65					6.31663e-08	8.21989e-08	0.003163	1	0
C8B	732	broad.mit.edu	37	1	57411544	57411544	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:57411544C>A	ENST00000543257.1	-	8	1465	c.899G>T	c.(898-900)gGc>gTc	p.G300V	C8B_ENST00000535057.1_Missense_Mutation_p.G290V|C8B_ENST00000371237.4_Missense_Mutation_p.G352V	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	352	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G352V(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTCATAAATGCCCCCAAGCAC	0.517000													32	56					9.65021e-13	1.4524e-12	0.010818	1	0
ADCY4	196883	broad.mit.edu	37	14	24800251	24800251	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr14:24800251G>C	ENST00000396747.3	-	6	997	c.110C>G	c.(109-111)tCt>tGt	p.S37C	ADCY4_ENST00000418030.2_Silent_p.L301L|ADCY4_ENST00000554068.2_Silent_p.L301L|ADCY4_ENST00000310677.4_Silent_p.L301L			Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	345					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.L301L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTTGCCAAAGAGCTCATTGA	0.577000													16	25					0	0	0.004007	0	0
PRKDC	5591	broad.mit.edu	37	8	48767902	48767902	+	Silent	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:48767902T>C	ENST00000314191.2	-	51	6695	c.6639A>G	c.(6637-6639)cgA>cgG	p.R2213R	PRKDC_ENST00000338368.3_Silent_p.R2213R|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2214					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.R2214R(1)|p.R2213R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AATTAAGCAATCGATTTGCTA	0.368000								Non-homologous end-joining					7	10					0	0	0.003080	0	0
GAPDHS	26330	broad.mit.edu	37	19	36034719	36034719	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:36034719C>A	ENST00000222286.4	+	9	1162	c.1046C>A	c.(1045-1047)aCc>aAc	p.T349N	AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	349					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	p.T349N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CTTGCCTACACCGAGGATGAG	0.622000													18	16					5.3912e-06	6.63876e-06	0.006122	1	0
KCNH2	3757	broad.mit.edu	37	7	150644119	150644119	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:150644119T>C	ENST00000392968.2	-	12	4008	c.2888A>G	c.(2887-2889)gAc>gGc	p.D963G	KCNH2_ENST00000262186.5_Missense_Mutation_p.D1059G|KCNH2_ENST00000330883.4_Missense_Mutation_p.D719G			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1059					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.D1059G(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGTGGCCATGTCTGCACTCAG	0.662000													27	47					0	0	0.003954	0	0
GABRQ	55879	broad.mit.edu	37	X	151818269	151818269	+	Silent	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:151818269T>A	ENST00000370306.2	+	6	695	c.675T>A	c.(673-675)acT>acA	p.T225T		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	225						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.T225T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACATGACTGAGGAGCTGC	0.478000													47	116					0	0	0.014410	0	0
POTEC	388468	broad.mit.edu	37	18	14542880	14542880	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr18:14542880G>T	ENST00000358970.5	-	1	265	c.266C>A	c.(265-267)tCc>tAc	p.S89Y	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	89								p.S89Y(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTCATAAAGGAGTTGTCATG	0.607000													55	285					6.56871e-35	1.21582e-34	0.014410	1	0
DLG3	1741	broad.mit.edu	37	X	69670523	69670523	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:69670523A>T	ENST00000194900.4	+	7	1270	c.929A>T	c.(928-930)gAg>gTg	p.E310V	DLG3_ENST00000374360.3_Missense_Mutation_p.E292V			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	292	PDZ 2.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.E292V(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GTGAGGCACGAGGAAGCTGTG	0.557000													14	35					0	0	0.003163	0	0
IFNA6	3443	broad.mit.edu	37	9	21350396	21350396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr9:21350396C>A	ENST00000380210.1	-	1	981	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	164					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.W164F(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GACAACCTCCCAGGCACAAGG	0.453000													96	291					1.39607e-43	2.68406e-43	0.014410	1	0
HEATR1	55127	broad.mit.edu	37	1	236734657	236734657	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:236734657T>C	ENST00000366582.3	-	28	4056	c.3942A>G	c.(3940-3942)atA>atG	p.I1314M	HEATR1_ENST00000366581.2_Missense_Mutation_p.I1233M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1314					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.I1314M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTACCGGAAATATTCCAGCAA	0.398000													16	40					0	0	0.004990	0	0
PBRM1	55193	broad.mit.edu	37	3	52643704	52643704	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr3:52643704A>T	ENST00000356770.4	-	15	2098	c.2096T>A	c.(2095-2097)aTg>aAg	p.M699K	PBRM1_ENST00000410007.1_Missense_Mutation_p.M731K|PBRM1_ENST00000337303.4_Missense_Mutation_p.M731K|PBRM1_ENST00000394830.3_Missense_Mutation_p.M731K|PBRM1_ENST00000409057.1_Missense_Mutation_p.M731K|PBRM1_ENST00000409767.1_Missense_Mutation_p.M746K|PBRM1_ENST00000296302.7_Missense_Mutation_p.M731K|PBRM1_ENST00000409114.3_Missense_Mutation_p.M746K			Q86U86	PB1_HUMAN	polybromo 1	731	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.M731K(2)|p.M699K(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTATTAAACATCATGACAAA	0.408000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								6	89					0	0	0.001984	0	0
LONRF3	79836	broad.mit.edu	37	X	118109401	118109401	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:118109401C>T	ENST00000365713.2	+	1	821	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S	LONRF3_ENST00000304778.7_Missense_Mutation_p.P220S|LONRF3_ENST00000371628.3_Missense_Mutation_p.P220S			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	220					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.P220S(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCAGCAGCCGCCGCCGCCGCT	0.736000													7	12					0	0	0.003080	0	0
CYP2C9	1559	broad.mit.edu	37	10	96740969	96740969	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:96740969A>T	ENST00000260682.6	+	7	1003	c.991A>T	c.(991-993)Att>Ttt	p.I331F		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	331					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.I331F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TGAACGTGTGATTGGCAGAAA	0.478000													58	97					0	0	0.014410	0	0
MYH15	22989	broad.mit.edu	37	3	108117506	108117506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr3:108117506C>G	ENST00000273353.3	-	36	5227	c.5171G>C	c.(5170-5172)aGa>aCa	p.R1724T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1724						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1724T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAGATTGATTCTTTCTGTTGC	0.527000													79	84					0	0	0.014410	0	0
DDX54	79039	broad.mit.edu	37	12	113600946	113600946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:113600946C>T	ENST00000314045.7	-	16	2099	c.2072G>A	c.(2071-2073)aGc>aAc	p.S691N	DDX54_ENST00000306014.5_Missense_Mutation_p.S691N	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	691					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	p.S691N(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCCCGCTCGCTGTCAAAGTC	0.647000													4	22					0	0	0.001168	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007844	58007844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:58007844C>T	ENST00000286494.4	+	6	1058	c.598C>T	c.(598-600)Cga>Tga	p.R200*	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.R239*|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	200	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	p.R200*(1)|p.R239*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CGAGAGTCTTCGAGGCCGTGA	0.567000													11	101					0	0	0.010729	0	0
SNTG1	54212	broad.mit.edu	37	8	51664632	51664632	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:51664632T>A	ENST00000522124.1	+	18	2017	c.1356T>A	c.(1354-1356)ttT>ttA	p.F452L	SNTG1_ENST00000518864.1_Missense_Mutation_p.F452L|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000276467.5_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	452					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.F452L(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AAATCAAATTTTTGTTTCAGA	0.348000													47	123					0	0	0.014410	0	0
TUBB8	347688	broad.mit.edu	37	10	93939	93939	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:93939C>G	ENST00000447903.2	-	4	492	c.177G>C	c.(175-177)caG>caC	p.Q59H	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.Q131H|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	131					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.Q131H(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCTGGAAACCCTGCAGGCAGT	0.582000													14	69					0	0	0.006122	0	0
NLRC4	58484	broad.mit.edu	37	2	32476218	32476218	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:32476218G>T	ENST00000404025.2	-	5	1203	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	NLRC4_ENST00000402280.1_Missense_Mutation_p.L239M|NLRC4_ENST00000360906.5_Missense_Mutation_p.L239M|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	239	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.L239M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTCTGCCGCAGCTTCAGCAGC	0.502000													40	93					8.69298e-16	1.40788e-15	0.006999	1	0
SMG9	56006	broad.mit.edu	37	19	44251904	44251904	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:44251904G>A	ENST00000601170.1	-	4	685	c.371C>T	c.(370-372)cCa>cTa	p.P124L	SMG9_ENST00000270066.6_Missense_Mutation_p.P124L			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	124	Pro-rich.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	p.P124L(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						AGGGGGTGGTGGGGCGGTGCC	0.682000													28	16					0	0	0.006320	0	0
MROH5	389690	broad.mit.edu	37	8	142505490	142505490	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:142505490G>T	ENST00000430863.1	-	0	436					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5									p.S119*(1)									CAGCTTGGGGGAGCCATGAGC	0.557000													29	71					2.08457e-15	3.33979e-15	0.010818	1	0
OR4M2	390538	broad.mit.edu	37	15	22369051	22369051	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr15:22369051A>G	ENST00000332663.2	+	1	574	c.476A>G	c.(475-477)cAg>cGg	p.Q159R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q159R(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTATCATACAGGTGGCTCTC	0.512000													70	517					0	0	0.014410	0	0
JARID2	3720	broad.mit.edu	37	6	15452366	15452366	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr6:15452366G>T	ENST00000341776.2	+	4	697	c.453G>T	c.(451-453)aaG>aaT	p.K151N	JARID2_ENST00000541660.1_Missense_Mutation_p.K113N|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	151					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.K151N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTAAAAGGAAGCCTAAGACAG	0.483000													37	85					1.04594e-18	1.75107e-18	0.006230	1	0
TTC40	54777	broad.mit.edu	37	10	134628239	134628239	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:134628239G>T	ENST00000368586.5	-	52	7300	c.7200C>A	c.(7198-7200)ccC>ccA	p.P2400P	TTC40_ENST00000263170.5_Silent_p.P561P	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	561								p.P2400P(1)|p.P561P(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGATGGTCCGGGGGATGCTGC	0.667000													16	34					1.5739e-10	2.19169e-10	0.004007	1	0
POLR3D	661	broad.mit.edu	37	8	22107690	22107690	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:22107690G>T	ENST00000397802.4	+	7	1239	c.1024G>T	c.(1024-1026)Ggc>Tgc	p.G342C	POLR3D_ENST00000306433.4_Missense_Mutation_p.G342C			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	342					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.G342C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACTCCTCTTGGGCAAGGTGAC	0.567000													13	40					3.27435e-08	4.31751e-08	0.002450	1	0
RPRD2	23248	broad.mit.edu	37	1	150337348	150337348	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:150337348A>G	ENST00000401000.4	+	1	223	c.158A>G	c.(157-159)aAa>aGa	p.K53R	RPRD2_ENST00000492220.1_Intron|RPRD2_ENST00000369067.3_Missense_Mutation_p.K53R|RPRD2_ENST00000539519.1_Missense_Mutation_p.K53R|RPRD2_ENST00000369068.4_Missense_Mutation_p.K53R			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	53	CID.						protein binding	p.K53R(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAGAACAAAAAACACCACAGT	0.498000													12	52					0	0	0.001855	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438235	85438235	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr15:85438235C>A	ENST00000394573.1	+	6	544	c.342C>A	c.(340-342)gtC>gtA	p.V114V	SLC28A1_ENST00000538177.1_Silent_p.V114V|SLC28A1_ENST00000537624.1_Silent_p.V114V|SLC28A1_ENST00000286749.3_Silent_p.V114V|SLC28A1_ENST00000537216.1_Silent_p.V114V|SLC28A1_ENST00000338602.2_Silent_p.V114V|SLC28A1_ENST00000537703.1_Silent_p.V36V	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	114					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.V114V(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTGTTTGTCCTCACCTGTG	0.637000													25	95					1.64293e-13	2.54997e-13	0.003330	1	0
POLR1A	25885	broad.mit.edu	37	2	86305001	86305001	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:86305001T>A	ENST00000263857.6	-	11	1739	c.1361A>T	c.(1360-1362)aAc>aTc	p.N454I	POLR1A_ENST00000409681.1_Missense_Mutation_p.N454I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	454					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.N454I(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCCAATTTCGTTGGTGTTGAT	0.542000													53	138					0	0	0.014410	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	49					0	0	0.004672	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1139804	1139804	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:1139804C>T	ENST00000379268.2	-	3	492	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	TNFRSF18_ENST00000486728.1_Missense_Mutation_p.E53K|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.E125K|TNFRSF18_ENST00000379265.5_Missense_Mutation_p.E125K	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	125					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	p.E125K(2)		lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGTGGCCTTCGTGGCCCCCG	0.647000													10	31					0	0	0.006214	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161652	90161652	+	RNA	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr16:90161652C>T	ENST00000564451.1	+	0	1005				TUBB8P7_ENST00000567960.1_RNA														p.L130L(1)									CTGTGACTGCCTGCAGGGTTT	0.597000													15	60					0	0	0.004007	0	0
OR8H1	219469	broad.mit.edu	37	11	56057871	56057871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:56057871G>T	ENST00000313022.2	-	1	695	c.668C>A	c.(667-669)aCc>aAc	p.T223N		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T223N(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTTCAGGATGGTAGAGAGAAT	0.398000													33	52					5.91797e-21	1.0194e-20	0.012213	1	0
MAST4	375449	broad.mit.edu	37	5	66460901	66460901	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:66460901G>T	ENST00000404260.3	+	29	6211	c.5903G>T	c.(5902-5904)aGg>aTg	p.R1968M	MAST4_ENST00000403666.1_Missense_Mutation_p.R1776M|MAST4_ENST00000405643.1_Missense_Mutation_p.R1786M|MAST4_ENST00000261569.7_Missense_Mutation_p.R1771M|MAST4_ENST00000403625.2_Missense_Mutation_p.R1965M			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1968						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R1968M(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCCCCTCAAGGGAGAAGCCA	0.647000													3	10					0.004672	0.00508123	0.004672	1	0
LILRA2	11027	broad.mit.edu	37	19	55086241	55086241	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:55086241G>A	ENST00000251377.3	+	5	529	c.396G>A	c.(394-396)gtG>gtA	p.V132V	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.V120V|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.V132V|LILRA2_ENST00000391738.3_Silent_p.V132V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.V132V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCAGCCCTGTGGTGACCTTAG	0.562000													47	171					0	0	0.014410	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75932314	75932314	+	Splice_Site	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:75932314G>T	ENST00000262207.4	+	12	1712	c.1244_splice	c.e12+1	p.R415_splice	CRISPLD1_ENST00000517786.1_Splice_Site_p.R229_splice|CRISPLD1_ENST00000523524.1_Splice_Site_p.R227_splice	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	415	LCCL 2.					extracellular region		p.R415I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CATTGCCCAAGGTAAACCAGT	0.408000													12	37					2.61681e-11	3.7672e-11	0.002450	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414832	14414832	+	RNA	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr21:14414832A>T	ENST00000507941.1	+	0	95																											GGACTGCTCTACACTGGGCCT	0.433000													4	57					0	0	0.009096	0	0
ABCA12	26154	broad.mit.edu	37	2	215821447	215821447	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:215821447A>T	ENST00000272895.7	-	42	6392	c.6173T>A	c.(6172-6174)tTa>tAa	p.L2058*	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.L1740*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2058					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.L2058*(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAATGCAGGTAATTTGAAAAT	0.358000													22	84					0	0	0.003330	0	0
OR10A2	341276	broad.mit.edu	37	11	6891249	6891249	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:6891249G>A	ENST00000307322.4	+	1	326	c.264G>A	c.(262-264)atG>atA	p.M88I		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M88I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCACTCAGATGTATTTCTTCT	0.522000													46	123					0	0	0.014410	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14784490	14784490	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr18:14784490C>G	ENST00000358984.4	+	14	1808	c.1628C>G	c.(1627-1629)cCa>cGa	p.P543R	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.P543R	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	543								p.P543R(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGACTGTTCCAAATAAAGCC	0.303000													12	34					0	0	0.013537	0	0
DENND4A	10260	broad.mit.edu	37	15	65989642	65989642	+	Silent	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr15:65989642T>C	ENST00000443035.3	-	21	3125	c.2910A>G	c.(2908-2910)caA>caG	p.Q970Q	DENND4A_ENST00000431932.2_Silent_p.Q927Q	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	927					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.Q970Q(1)|p.Q927Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTTTTCTTCTTGAATGTCTT	0.308000													48	96					0	0	0.014410	0	0
ZNF263	10127	broad.mit.edu	37	16	3334041	3334041	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr16:3334041C>T	ENST00000219069.5	+	1	1099	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	ZNF263_ENST00000574253.1_Missense_Mutation_p.R75C|ZNF263_ENST00000573578.1_Missense_Mutation_p.R75C|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	75	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R75C(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GCCTGAGATGCGCACGAAGGA	0.622000													4	102					0	0	0.000602	0	0
LPAL2	80350	broad.mit.edu	37	6	160899576	160899576	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr6:160899576C>A	ENST00000335388.5	-	0	1308					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GGAACTGGAACAACAGTGGGA	0.453000													20	60					7.87624e-14	1.23533e-13	0.002780	1	0
DSG4	147409	broad.mit.edu	37	18	28986162	28986162	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr18:28986162T>A	ENST00000359747.4	+	12	1788	c.1759T>A	c.(1759-1761)Tgt>Agt	p.C587S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.C587S	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	587					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.C587S(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTATATGCCTGTGATTGCGA	0.478000													25	64					0	0	0.003954	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201518	81201518	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr15:81201518G>A	ENST00000394685.3	+	14	2087	c.1668G>A	c.(1666-1668)ccG>ccA	p.P556P	RP11-351M8.1_ENST00000560560.1_Intron|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.P556P|KIAA1199_ENST00000220244.3_Silent_p.P556P			Q8WUJ3	K1199_HUMAN	KIAA1199	556								p.P556P(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTCAGTACCCGATTCACTTCC	0.547000													13	63					0	0	0.002450	0	0
SPIN4	139886	broad.mit.edu	37	X	62570685	62570685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:62570685G>T	ENST00000335144.3	-	1	533	c.14C>A	c.(13-15)aCc>aAc	p.T5N	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_5'UTR	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	5					gamete generation			p.T5N(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						CGGAGGCACGGTTGGAGGAGA	0.512000													13	57					1.49906e-05	1.83082e-05	0.002450	1	0
FER1L6	654463	broad.mit.edu	37	8	125094556	125094556	+	Silent	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:125094556A>T	ENST00000522917.1	+	33	4454	c.4248A>T	c.(4246-4248)ccA>ccT	p.P1416P	FER1L6_ENST00000399018.1_Silent_p.P1416P|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1416	C2 5.					integral to membrane		p.P1416P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCACATTCCCAAAAGAGTCCC	0.478000													53	107					0	0	0.014410	0	0
KIF12	113220	broad.mit.edu	37	9	116859704	116859704	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr9:116859704G>A	ENST00000374118.3	-	4	346	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	170	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L37L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCCAGGCTCAGCAAGTCCCGA	0.627000													12	40					0	0	0.001855	0	0
CACNA1C	775	broad.mit.edu	37	12	2613703	2613703	+	Silent	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:2613703C>T	ENST00000399634.1	+	8	1215	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399617.1_Silent_p.S405S|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399603.1_Silent_p.S405S|CACNA1C_ENST00000406454.3_Silent_p.S405S|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399641.1_Silent_p.S405S|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399591.1_Intron	NM_001167625.1	NP_001161097.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	405					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.S405S(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTGTGTTGAGCGGGTAAGCTG	0.532000													38	64					0	0	0.005524	0	0
KEAP1	9817	broad.mit.edu	37	19	10610246	10610246	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:10610246A>G	ENST00000171111.5	-	2	1011	c.464T>C	c.(463-465)gTc>gCc	p.V155A	KEAP1_ENST00000393623.2_Missense_Mutation_p.V155A	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.V155A(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ACCGTTCATGACGTGGAGGAC	0.587000													37	22					0	0	0.004289	0	0
PAK7	57144	broad.mit.edu	37	20	9546928	9546928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr20:9546928C>A	ENST00000378429.3	-	6	1640	c.1094G>T	c.(1093-1095)gGc>gTc	p.G365V	PAK7_ENST00000378423.1_Missense_Mutation_p.G365V|PAK7_ENST00000353224.5_Missense_Mutation_p.G365V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	365	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G365V(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGGAATAGCCCGATTTGCT	0.562000													45	145					2.81731e-22	4.93857e-22	0.014410	1	0
MAP3K4	4216	broad.mit.edu	37	6	161491814	161491814	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr6:161491814C>T	ENST00000392142.4	+	4	2030	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y	MAP3K4_ENST00000348824.7_Missense_Mutation_p.H628Y|MAP3K4_ENST00000366920.2_Missense_Mutation_p.H628Y|MAP3K4_ENST00000366919.2_Missense_Mutation_p.H628Y	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	628					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.H628Y(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAATGTCATACATGAGTGTCT	0.448000													10	23					0	0	0.008291	0	0
KCNC1	3746	broad.mit.edu	37	11	17757877	17757877	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:17757877C>A	ENST00000379472.3	+	1	358	c.328C>A	c.(328-330)Cgc>Agc	p.R110S	KCNC1_ENST00000265969.6_Missense_Mutation_p.R110S	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	110						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R110S(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GATGACGTACCGCCAGCACCG	0.716000													13	30					3.27435e-08	4.31751e-08	0.002450	1	0
FRAS1	80144	broad.mit.edu	37	4	79432632	79432632	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:79432632G>T	ENST00000264895.6	+	64	10425	c.9985G>T	c.(9985-9987)Gat>Tat	p.D3329Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3324					cell communication	integral to membrane|plasma membrane	metal ion binding	p.D3330Y(1)|p.D3329Y(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAAATACCTGGATGTCAAACA	0.512000													10	20					2.17888e-05	2.62877e-05	0.006214	1	0
SVEP1	79987	broad.mit.edu	37	9	113173762	113173762	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr9:113173762G>T	ENST00000401783.2	-	37	6565	c.6229C>A	c.(6229-6231)Cgt>Agt	p.R2077S	SVEP1_ENST00000374469.1_Missense_Mutation_p.R2054S|SVEP1_ENST00000297826.5_Missense_Mutation_p.R3S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2077	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.R2080S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTATACAACGGGGCATGTCT	0.478000													15	22					0.000308642	0.000355117	0.003163	1	0
BAGE2	85319	broad.mit.edu	37	21	11039321	11039321	+	RNA	SNP	A	A	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr21:11039321A>C	ENST00000470054.1	-	0	882									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTCACTTCCATTTTATCTTC	0.373000													12	353					0	0	0.004007	0	0
ARC	23237	broad.mit.edu	37	8	143695607	143695607	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:143695607C>A	ENST00000356613.2	-	1	1226	c.26G>T	c.(25-27)gGc>gTc	p.G9V		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	9					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		p.G9F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GTGGAGCCCGCCGCTGGTCCG	0.736000													7	14					0.00307968	0.00341169	0.003080	1	0
SYT17	51760	broad.mit.edu	37	16	19236108	19236108	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr16:19236108C>G	ENST00000562034.1	+	5	4791	c.993C>G	c.(991-993)ttC>ttG	p.F331L	SYT17_ENST00000562711.2_Missense_Mutation_p.F388L|SYT17_ENST00000568115.1_Missense_Mutation_p.F331L|SYT17_ENST00000355377.2_Missense_Mutation_p.F392L|SYT17_ENST00000568433.1_Missense_Mutation_p.F86L			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	392	C2 2.					membrane|synaptic vesicle	transporter activity	p.F392L(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ATGAATCCTTCAGCTTCAAAG	0.448000													39	93					0	0	0.014410	0	0
BAGE2	85319	broad.mit.edu	37	21	11039319	11039319	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr21:11039319C>A	ENST00000470054.1	-	0	884									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTGTCACTTCCATTTTATCT	0.373000													14	354					2.35188e-11	3.40224e-11	0.006122	1	0
TOX3	27324	broad.mit.edu	37	16	52502441	52502441	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr16:52502441C>A	ENST00000219746.9	-	2	417	c.133G>T	c.(133-135)Gcg>Tcg	p.A45S	TOX3_ENST00000407228.3_Missense_Mutation_p.A41S	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	45					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.A45S(1)|p.A41S(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GCGAAGAACGCATTGTTCGCC	0.353000													37	83					4.90274e-10	6.70191e-10	0.006230	1	0
SNRPA	6626	broad.mit.edu	37	19	41263354	41263354	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:41263354G>T	ENST00000243563.3	+	2	741	c.191G>T	c.(190-192)aGc>aTc	p.S64I	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	64	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.S64I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGGTCAGCAGCGCCACCAAC	0.542000													41	46					6.1207e-33	1.11218e-32	0.013114	1	0
KIF4A	24137	broad.mit.edu	37	X	69550032	69550032	+	Silent	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:69550032T>A	ENST00000374403.3	+	9	1003	c.921T>A	c.(919-921)acT>acA	p.T307T	KIF4A_ENST00000374388.3_Silent_p.T307T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	307	Kinesin-motor.				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	p.T307T(1)		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						ATAGCCATACTCTTATGATAG	0.378000													62	156					0	0	0.014410	0	0
CAD	790	broad.mit.edu	37	2	27459689	27459689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:27459689C>T	ENST00000264705.4	+	27	4549	c.4387C>T	c.(4387-4389)Cga>Tga	p.R1463*	CAD_ENST00000403525.1_Nonsense_Mutation_p.R1400*	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1463	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.R1463*(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAAGCTTGTGCGACTGCCGGG	0.572000													4	111					0	0	0.001168	0	0
FBXL7	23194	broad.mit.edu	37	5	15928306	15928306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:15928306C>A	ENST00000504595.1	+	3	916	c.435C>A	c.(433-435)taC>taA	p.Y145*	FBXL7_ENST00000510662.1_Nonsense_Mutation_p.Y98*|FBXL7_ENST00000329673.7_Nonsense_Mutation_p.Y133*	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	145	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.Y145*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCCGCTGGTACAACCTGGCCT	0.672000													5	11					0.00116845	0.00132394	0.001168	1	0
OR4C3	256144	broad.mit.edu	37	11	48347481	48347481	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:48347481A>T	ENST00000319856.4	+	1	1010	c.989A>T	c.(988-990)tAa>tTa	p.*330L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*330L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTACATGGTAAGAAATTGCA	0.323000													4	34					0	0	0.001168	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885566	24885566	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr14:24885566G>A	ENST00000382554.3	+	9	4929	c.4611G>A	c.(4609-4611)ccG>ccA	p.P1537P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1537					DNA integration	integral to membrane	DNA binding	p.P1537P(1)|p.P66P(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGTAGTCCCGACGCAACTCC	0.547000													8	17					0	0	0.003080	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736276	140736276	+	Silent	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:140736276C>G	ENST00000571252.1	+	1	1509	c.1509C>G	c.(1507-1509)tcC>tcG	p.S503S	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTCCTCCTATGTCTCCA	0.507000													56	128					0	0	0.014410	0	0
FAM71B	153745	broad.mit.edu	37	5	156592744	156592744	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:156592744T>C	ENST00000302938.4	-	1	531	c.436A>G	c.(436-438)Act>Gct	p.T146A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	146						nucleus		p.T146A(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTACGGCCAGTGGCGAGTTTC	0.493000													37	74					0	0	0.003755	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144364	35144364	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:35144364G>T	ENST00000436258.1	-	0	1702																											ACTGCAATGTGTGAAAAGCCA	0.303000													12	22					5.16669e-11	7.33177e-11	0.010729	1	0
KDR	3791	broad.mit.edu	37	4	55981449	55981449	+	Splice_Site	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:55981449G>T	ENST00000263923.4	-	4	783	c.489_splice	c.e4+1	p.A163_splice		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	163	Ig-like C2-type 2.				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	p.A163E(1)		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)	GCAACTTACTGCACAAAGTGA	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			11	27					6.40141e-05	7.56992e-05	0.010729	1	0
HTATSF1	27336	broad.mit.edu	37	X	135585093	135585093	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:135585093C>G	ENST00000535601.1	+	6	1149	c.727C>G	c.(727-729)Caa>Gaa	p.Q243E	HTATSF1_ENST00000218364.4_Missense_Mutation_p.Q243E	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	243					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.Q243E(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GCTGTCTATGCAACAAAAGTT	0.338000													25	67					0	0	0.004656	0	0
RHBDF2	79651	broad.mit.edu	37	17	74473847	74473847	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr17:74473847G>A	ENST00000591885.1	-	7	1243	c.693C>T	c.(691-693)gcC>gcT	p.A231A	RHBDF2_ENST00000313080.4_Silent_p.A260A|RHBDF2_ENST00000389760.4_Silent_p.A231A			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	260					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.A260A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCTGTCCGGTGGCATCCAGCA	0.642000													22	44					0	0	0.012319	0	0
ASTN1	460	broad.mit.edu	37	1	176863861	176863861	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:176863861G>A	ENST00000367654.2	-	17	2814	c.2801C>T	c.(2800-2802)gCg>gTg	p.A934V	ASTN1_ENST00000424564.2_Missense_Mutation_p.A926V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A926V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A926V			O14525	ASTN1_HUMAN	astrotactin 1	934					cell migration|neuron cell-cell adhesion	integral to membrane		p.A926V(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACTCCAGCCGCCATGTGCTT	0.602000													25	83					0	0	0.008740	0	0
POP1	10940	broad.mit.edu	37	8	99142345	99142345	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:99142345C>T	ENST00000401707.2	+	5	707	c.626C>T	c.(625-627)gCc>gTc	p.A209V	POP1_ENST00000349693.3_Missense_Mutation_p.A209V	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	209					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	p.A209V(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATCTGGCACGCCAAGCGGTTT	0.488000													17	53					0	0	0.007413	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253450	32253450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr21:32253450G>T	ENST00000332378.4	-	1	424	c.394C>A	c.(394-396)Caa>Aaa	p.Q132K		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	132	4 X 10 AA approximate repeats.					keratin filament	structural molecule activity	p.Q132K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CCCACTGGTTGGCAGACAGTA	0.597000													12	75					3.07112e-06	3.82926e-06	0.010729	1	0
PCDHB17P	54661	broad.mit.edu	37	5	140537229	140537229	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:140537229G>T	ENST00000539533.1	+	1	1653	c.1653G>T	c.(1651-1653)ctG>ctT	p.L551L															p.L551L(2)									TGCGCGTGCTGGTGTGCTGGA	0.711000													35	47					2.09667e-21	3.63259e-21	0.003755	1	0
FAM65B	9750	broad.mit.edu	37	6	24848310	24848310	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr6:24848310C>T	ENST00000259698.4	-	12	1195	c.1020G>A	c.(1018-1020)atG>atA	p.M340I	FAM65B_ENST00000538035.1_Missense_Mutation_p.M369I|FAM65B_ENST00000510784.2_Missense_Mutation_p.M374I|FAM65B_ENST00000378023.4_Missense_Mutation_p.M340I|FAM65B_ENST00000540914.1_Missense_Mutation_p.M340I	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	340					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.M340I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGTACATGGACATTCTCCTCT	0.527000													16	47					0	0	0.003163	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475340	140475340	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:140475340G>T	ENST00000194155.4	+	1	1114	c.966G>T	c.(964-966)caG>caT	p.Q322H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		322	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q322H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATATTCAGGCGACAGATG	0.418000													33	67					4.74835e-14	7.52665e-14	0.010818	1	0
TATDN3	128387	broad.mit.edu	37	1	212976082	212976082	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:212976082G>A	ENST00000366974.4	+	5	392	c.298G>A	c.(298-300)Gat>Aat	p.D100N	TATDN3_ENST00000531963.1_Missense_Mutation_p.D100N|TATDN3_ENST00000526997.1_Missense_Mutation_p.D100N|TATDN3_ENST00000530441.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.D100N|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526641.1_Intron|TATDN3_ENST00000366973.4_Missense_Mutation_p.D100N	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	100						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.D100N(1)		endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		GAATTATAAGGATCGGTTGTT	0.343000													4	54					0	0	0.009096	0	0
MNDA	4332	broad.mit.edu	37	1	158813853	158813853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:158813853G>T	ENST00000368141.4	+	4	772	c.511G>T	c.(511-513)Gat>Tat	p.D171Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	171					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.D171Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TGCAGCTGTGGATCATCCCCC	0.493000													39	166					7.53189e-24	1.32811e-23	0.007835	1	0
IL12RB2	3595	broad.mit.edu	37	1	67795397	67795397	+	Silent	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:67795397C>T	ENST00000262345.1	+	6	1432	c.792C>T	c.(790-792)agC>agT	p.S264S	IL12RB2_ENST00000541374.1_Silent_p.S264S|IL12RB2_ENST00000544434.1_Silent_p.S264S|IL12RB2_ENST00000371000.1_Silent_p.S264S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	264	Fibronectin type-III 2.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.S264S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCAGTAACAGCAGGCTCTGGA	0.403000													15	41					0	0	0.004990	0	0
MROH5	389690	broad.mit.edu	37	8	142505489	142505489	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:142505489G>T	ENST00000430863.1	-	0	437					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5									p.S119*(1)									CCAGCTTGGGGGAGCCATGAG	0.562000													28	71					1.08312e-15	1.7447e-15	0.009535	1	0
S100A7	6278	broad.mit.edu	37	1	153430323	153430323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:153430323G>A	ENST00000368723.3	-	3	375	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	S100A7_ENST00000368722.1_Nonsense_Mutation_p.Q89*	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	89					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	p.Q89*(1)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCATGGCTCTGCTTGTGGTAG	0.527000													12	116					0	0	0.002450	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126801	73126801	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr16:73126801C>A	ENST00000569990.2	+	0	554					NR_027756.1																						CCCACGCGCTCCTGTTTTCCC	0.527000													30	41					1.75199e-13	2.70514e-13	0.007291	1	0
LIN7A	8825	broad.mit.edu	37	12	81239642	81239642	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:81239642C>A	ENST00000552864.1	-	4	552	c.350G>T	c.(349-351)gGc>gTc	p.G117V		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	117	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	p.G117V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AAAACCAAGGCCTTCATCAGT	0.458000													18	64					3.52763e-06	4.38014e-06	0.004990	1	0
MSH2	4436	broad.mit.edu	37	2	47630474	47630474	+	Silent	SNP	G	G	A	rs63750334		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:47630474G>A	ENST00000406134.1	+	1	206	c.144G>A	c.(142-144)gaG>gaA	p.E48E	MSH2_ENST00000543555.1_Intron|MSH2_ENST00000233146.2_Silent_p.E48E			P43246	MSH2_HUMAN	mutS homolog 2	48					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.E48E(1)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGCACGGCGAGGACGCGCTGC	0.687000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	25					0	0	0.006214	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012884	73012884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:73012884C>A	ENST00000308744.6	+	4	1022	c.924C>A	c.(922-924)tgC>tgA	p.C308*	NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.C209*|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.C206*	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	308					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.C308*(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCTACTGGTGCCGGGAAGACT	0.458000													20	64					8.00594e-06	9.81798e-06	0.007413	1	0
WHSC1	7468	broad.mit.edu	37	4	1952804	1952804	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:1952804G>T	ENST00000382895.3	+	12	2318	c.1887G>T	c.(1885-1887)tcG>tcT	p.S629S	WHSC1_ENST00000508803.1_Silent_p.S629S|WHSC1_ENST00000382892.2_Silent_p.S629S|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Silent_p.S629S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	629					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S629S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCTAGGTCTCGGACAGCCCGG	0.587000			T	IGH@	MM								17	53					1.15088e-07	1.47194e-07	0.004007	1	0
UBQLN2	29978	broad.mit.edu	37	X	56591819	56591819	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:56591819G>T	ENST00000338222.5	+	1	1794	c.1513G>T	c.(1513-1515)Gtc>Ttc	p.V505F		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	505	12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding	p.V505F(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGGCCCTATAGTCCCTTTTAC	0.662000													3	4					0.00909568	0.00975005	0.009096	1	0
POMK	84197	broad.mit.edu	37	8	42977285	42977285	+	Silent	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:42977285A>G	ENST00000331373.5	+	5	573	c.318A>G	c.(316-318)gcA>gcG	p.A106A		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		106	Protein kinase.					integral to membrane	ATP binding|protein kinase activity	p.A106A(2)									ACAAAGTTGCACTCTCACAGC	0.483000													51	94					0	0	0.014410	0	0
TM4SF5	9032	broad.mit.edu	37	17	4675237	4675237	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr17:4675237C>T	ENST00000270560.3	+	1	51	c.20C>T	c.(19-21)gCc>gTc	p.A7V		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	7						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GGAAAATGTGCCCGCTGTGTG	0.582000													4	197					0	0	0.000602	0	0
EPHB2	2048	broad.mit.edu	37	1	23111087	23111087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:23111087C>A	ENST00000400191.3	+	3	347	c.329C>A	c.(328-330)aCc>aAc	p.T110N	EPHB2_ENST00000374627.1_Missense_Mutation_p.T104N|EPHB2_ENST00000374632.3_Missense_Mutation_p.T110N|EPHB2_ENST00000544305.1_Missense_Mutation_p.T110N|EPHB2_ENST00000374630.3_Missense_Mutation_p.T110N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	110					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.T110N(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGCAAGGAGACCTTCAACCTC	0.572000													12	21					1.08611e-07	1.40722e-07	0.010729	1	0
ZNF107	51427	broad.mit.edu	37	7	64167704	64167704	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:64167704C>T	ENST00000395391.1	+	4	2397	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	ZNF107_ENST00000344930.3_Missense_Mutation_p.S341L|ZNF107_ENST00000423627.1_Missense_Mutation_p.S341L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S341L(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AACCAGTTCTCAACTCTTACT	0.343000													17	24					0	0	0.004990	0	0
SRPK3	26576	broad.mit.edu	37	X	153048494	153048494	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:153048494G>A	ENST00000489426.1	+	13	3236	c.870G>A	c.(868-870)ggG>ggA	p.G290G	SRPK3_ENST00000370108.3_Silent_p.G223G|SRPK3_ENST00000370101.3_Silent_p.G223G|SRPK3_ENST00000370104.1_Silent_p.G223G|SRPK3_ENST00000370100.1_Silent_p.G181G|SRPK3_ENST00000393786.3_Silent_p.G223G			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	223	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	p.G223G(1)|p.G290G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGTGTGGGGGACGCTTACA	0.647000													15	45					0	0	0.010504	0	0
RERGL	79785	broad.mit.edu	37	12	18237478	18237478	+	Missense_Mutation	SNP	C	C	T	rs61757396	byFrequency	TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:18237478C>T	ENST00000229002.2	-	5	514	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RERGL_ENST00000538724.1_Missense_Mutation_p.R102Q|RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	103	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.R103Q(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGTGGCTCCCGGATTCTGTA	0.383000													12	95					0	0	0.001855	0	0
SLC6A8	6535	broad.mit.edu	37	X	152958581	152958581	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:152958581G>T	ENST00000253122.5	+	5	1339	c.863G>T	c.(862-864)gGc>gTc	p.G288V	SLC6A8_ENST00000430077.2_Missense_Mutation_p.G173V|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	288					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G288V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCCCTGGATGGCATCATTTAC	0.632000													9	18					0.00448238	0.00494722	0.004482	1	0
LRRC4B	94030	broad.mit.edu	37	19	51021872	51021872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:51021872G>C	ENST00000599957.1	-	3	1295	c.1098C>G	c.(1096-1098)atC>atG	p.I366M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.I366M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	366	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane		p.I366M(1)|p.I366I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCGGCTCCACGATGACGGGCG	0.667000													7	30					0	0	0.003080	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	11					0	0	0.010729	0	0
BCL9L	283149	broad.mit.edu	37	11	118772195	118772195	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:118772195T>A	ENST00000334801.3	-	6	3221	c.2257A>T	c.(2257-2259)Atg>Ttg	p.M753L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	753	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.M753L(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GACTGCCCCATGGGAGGGCTC	0.612000													22	48					0	0	0.002780	0	0
U66061.31	0	broad.mit.edu	37	7	142423708	142423708	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:142423708C>A	ENST00000506718.1	+	0	716																											GCACAGCCAGCTGCTCTCTGC	0.537000													8	29					0.000157383	0.000183922	0.003080	1	0
MYO5B	4645	broad.mit.edu	37	18	47566513	47566513	+	Splice_Site	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr18:47566513C>A	ENST00000285039.7	-	3	609	c.310_splice	c.e3+1	p.G104_splice		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	104	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G104C(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCCCACTTACCACAGTAAGTG	0.458000													55	95					1.54043e-34	2.83364e-34	0.014410	1	0
HDC	3067	broad.mit.edu	37	15	50546389	50546389	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr15:50546389G>T	ENST00000267845.3	-	6	1060	c.658C>A	c.(658-660)Cga>Aga	p.R220R	HDC_ENST00000543581.1_Silent_p.R220R	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	220					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R220R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCTTCCCCTCGGAGTGAGAAG	0.488000													26	56					1.55469e-16	2.57388e-16	0.003330	1	0
PALLD	23022	broad.mit.edu	37	4	169611777	169611777	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:169611777G>A	ENST00000335742.7	+	7	1570	c.213G>A	c.(211-213)gcG>gcA	p.A71A	PALLD_ENST00000261509.6_Silent_p.A453A|PALLD_ENST00000505667.1_Silent_p.A453A|PALLD_ENST00000512127.1_Silent_p.A71A|PALLD_ENST00000333488.4_Silent_p.A330A			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	453					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.A453A(1)|p.A71A(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCCGTGGCGGAAGGCCAGG	0.502000									Pancreatic Cancer, Familial Clustering of				56	146					0	0	0.014410	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332646	22332646	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr15:22332646C>A	ENST00000558896.1	+	0	453																											TGTTACTCTGCCAAAGATGTT	0.458000													24	197					4.72057e-08	6.16987e-08	0.003954	1	0
SLURP1	57152	broad.mit.edu	37	8	143822670	143822670	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:143822670A>G	ENST00000246515.1	-	3	228	c.203T>C	c.(202-204)gTg>gCg	p.V68A		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	68	UPAR/Ly6.				cell activation|cell adhesion	extracellular space	cytokine activity	p.V68A(1)		breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCGGGTCACCACGGGGCTCTG	0.672000													11	15					0	0	0.010729	0	0
ZNF716	441234	broad.mit.edu	37	7	57528793	57528793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:57528793G>T	ENST00000420713.1	+	4	738	c.626G>T	c.(625-627)aGg>aTg	p.R209M		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.R209M(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATTCATACTAGGGAGAAGTCT	0.353000													4	17					0.00024832	0.000287935	0.009096	1	0
XIRP2	129446	broad.mit.edu	37	2	168107287	168107287	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:168107287A>C	ENST00000409195.1	+	9	9474	c.9385A>C	c.(9385-9387)Act>Cct	p.T3129P	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3129P|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2907P|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2954					actin cytoskeleton organization	cell junction	actin binding	p.T3129P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATAGAATCTACTGCCCGACG	0.443000													26	58					0	0	0.005443	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95657604	95657604	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:95657604C>G	ENST00000324972.6	+	11	1331	c.1138C>G	c.(1138-1140)Cgg>Ggg	p.R380G	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R343G|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R343G|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R363G|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R360G|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R363G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	380					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.R380G(1)|p.R380W(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCCAGTGCAGCGGACACCCTT	0.517000													45	82					0	0	0.013114	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709705	38709705	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:38709705C>A	ENST00000417039.1	-	0	696																											GCATCAGTACCCCATTCTATC	0.502000													29	44					5.60225e-13	8.51771e-13	0.009535	1	0
SYT12	91683	broad.mit.edu	37	11	66807645	66807645	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:66807645C>T	ENST00000393946.2	+	7	1754	c.592C>T	c.(592-594)Ccg>Tcg	p.P198S	SYT12_ENST00000527043.1_Missense_Mutation_p.P198S|SYT12_ENST00000525457.1_Missense_Mutation_p.P198S|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	198	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane		p.P198S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CAGCCTGCTGCCGGACGAGCA	0.662000													3	44					0	0	0.009096	0	0
DMD	1756	broad.mit.edu	37	X	31645941	31645941	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:31645941C>G	ENST00000357033.4	-	55	8272	c.8066G>C	c.(8065-8067)aGa>aCa	p.R2689T	DMD_ENST00000378677.2_Missense_Mutation_p.R2685T|DMD_ENST00000541735.1_Missense_Mutation_p.R229T|DMD_ENST00000378707.3_Missense_Mutation_p.R229T|DMD_ENST00000343523.2_Missense_Mutation_p.R229T|DMD_ENST00000474231.1_Missense_Mutation_p.R229T|DMD_ENST00000359836.1_Missense_Mutation_p.R229T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2689					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R1348T(1)|p.R2684T(1)|p.R2685T(1)|p.R229T(1)|p.R2689T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCAGTAATCTATGAGTTTC	0.453000													6	24					0	0	0.001984	0	0
EPHB6	2051	broad.mit.edu	37	7	142562228	142562228	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:142562228G>A	ENST00000392957.2	+	7	1457	c.670G>A	c.(670-672)Gct>Act	p.A224T	EPHB6_ENST00000442129.1_Missense_Mutation_p.A224T|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	224	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.A209T(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCCCTGGTCGCTGTCAGGCT	0.652000													6	142					0	0	0.001984	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107282967	107282967	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr14:107282967G>T	ENST00000390639.2	-	0	229																											TTGTCCAGGGGCCTGTGGCAC	0.552000													46	115					6.07928e-31	1.09134e-30	0.009718	1	0
DCTN4	51164	broad.mit.edu	37	5	150121678	150121678	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:150121678G>T	ENST00000447998.2	-	4	542	c.427C>A	c.(427-429)Cgg>Agg	p.R143R	DCTN4_ENST00000424236.1_Silent_p.R86R|DCTN4_ENST00000446090.2_Silent_p.R143R|DCTN4_ENST00000521093.1_Intron	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	143						centrosome|nucleus	protein N-terminus binding	p.R143R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACTTACCCGTTGTGTGTGA	0.338000													107	207					2.38168e-41	4.52064e-41	0.014410	1	0
POU6F2	11281	broad.mit.edu	37	7	39379533	39379533	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:39379533G>A	ENST00000518318.2	+	5	846	c.804G>A	c.(802-804)caG>caA	p.Q268Q	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Silent_p.Q268Q|POU6F2_ENST00000559001.1_Silent_p.Q260Q			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	268	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q268Q(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						caacccagcagagctccagcc	0.622000													14	35					0	0	0.002450	0	0
NPM3	10360	broad.mit.edu	37	10	103542607	103542607	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:103542607C>A	ENST00000370110.5	-	2	215	c.193G>T	c.(193-195)Gca>Tca	p.A65S	NPM3_ENST00000474993.1_Intron	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	65							nucleic acid binding	p.A65S(1)		large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ATGGTTAGTGCCAGCACGTGC	0.542000													15	32					1.15088e-07	1.47194e-07	0.004007	1	0
IGHG2	3501	broad.mit.edu	37	14	106110084	106110084	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr14:106110084C>A	ENST00000390545.2	-	0	533																											CCACACGGAACGTGCTGTTGA	0.597000													84	206					7.68447e-34	1.40489e-33	0.014410	1	0
MXRA5	25878	broad.mit.edu	37	X	3248300	3248300	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:3248300G>T	ENST00000217939.6	-	4	622	c.468C>A	c.(466-468)ctC>ctA	p.L156L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	156						extracellular region		p.L156L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCCAAATGGAGTAGCCTCA	0.478000													17	38					4.14922e-12	6.06111e-12	0.004007	1	0
MARCH4	57574	broad.mit.edu	37	2	217142428	217142428	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:217142428C>A	ENST00000273067.4	-	3	2598	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	278						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.G278W(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCATACATCCCGTAGCAGATC	0.557000													39	105					2.66277e-13	4.09023e-13	0.006999	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627205	43627205	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr9:43627205C>A	ENST00000332857.6	-	4	1510	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.E494D(1)									GGGCCTGAGCCTCGGCCTGAG	0.542000													199	502					3.81497e-87	7.43046e-87	0.014410	1	0
DUS2	54920	broad.mit.edu	37	16	68109324	68109324	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr16:68109324G>T	ENST00000565263.1	+	14	1493	c.999G>T	c.(997-999)agG>agT	p.R333S	DUS2L_ENST00000358896.6_Missense_Mutation_p.R333S|DUS2L_ENST00000432752.1_Missense_Mutation_p.R298S	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		333					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	p.R333S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		AGCAGGCCAGGCTCTCAGCCA	0.547000													10	28					2.17888e-05	2.62877e-05	0.006214	1	0
KIF4A	24137	broad.mit.edu	37	X	69637839	69637839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:69637839C>A	ENST00000374403.3	+	29	3439	c.3357C>A	c.(3355-3357)aaC>aaA	p.N1119K		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1119	Globular.|Interaction with PRC1.				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	p.N1119K(1)		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						AGTGTCGGAACCGCCAGCAAG	0.542000													22	61					1.55795e-14	2.48272e-14	0.012319	1	0
IFNA6	3443	broad.mit.edu	37	9	21350395	21350395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr9:21350395C>A	ENST00000380210.1	-	1	982	c.492G>T	c.(490-492)tgG>tgT	p.W164C		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	164					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.W164F(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGACAACCTCCCAGGCACAAG	0.453000													95	292					4.98208e-43	9.51704e-43	0.014410	1	0
RGS22	26166	broad.mit.edu	37	8	101065202	101065202	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:101065202G>A	ENST00000360863.6	-	10	1711	c.1517C>T	c.(1516-1518)gCa>gTa	p.A506V	RGS22_ENST00000523287.1_Missense_Mutation_p.A325V|RGS22_ENST00000523437.1_Missense_Mutation_p.A494V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	506					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.A506V(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAATCTTGGTGCCCTGTTTAT	0.368000													7	160					0	0	0.001984	0	0
NRAP	4892	broad.mit.edu	37	10	115356917	115356917	+	Silent	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:115356917A>G	ENST00000369358.4	-	37	4627	c.4383T>C	c.(4381-4383)agT>agC	p.S1461S	NRAP_ENST00000359988.3_Silent_p.S1453S|NRAP_ENST00000369360.3_Silent_p.S1426S|NRAP_ENST00000360478.3_Silent_p.S1418S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1453						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.S1453S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGAACTTGATACTGTCTGGTT	0.453000													44	125					0	0	0.013114	0	0
RXFP1	59350	broad.mit.edu	37	4	159573154	159573154	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:159573154C>A	ENST00000307765.5	+	18	2472	c.2221C>A	c.(2221-2223)Ccc>Acc	p.P741T	RXFP1_ENST00000448688.2_Missense_Mutation_p.P636T|RXFP1_ENST00000460056.2_Missense_Mutation_p.P660T|RXFP1_ENST00000470033.1_Missense_Mutation_p.P708T|RXFP1_ENST00000343542.5_Missense_Mutation_p.P693T	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	741						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.P741T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTTCACATACCCCTGTGAAAT	0.443000													15	55					1.3612e-06	1.70436e-06	0.003163	1	0
CECR1	51816	broad.mit.edu	37	22	17688152	17688152	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr22:17688152G>A	ENST00000399839.1	-	3	621	c.351C>T	c.(349-351)ggC>ggT	p.G117G	CECR1_ENST00000449907.2_Silent_p.G75G|CECR1_ENST00000262607.3_Silent_p.G117G|CECR1_ENST00000399837.2_Silent_p.G117G			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	117					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	p.G117G(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TAGTCACGATGCCAATGTCAT	0.552000													5	79					0	0	0.000602	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389175	1389175	+	Silent	SNP	C	C	T	rs71299249		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:1389175C>T	ENST00000324803.4	+	1	3836	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	292					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.L292L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCC	0.687000													100	232					0	0	0.014410	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36103274	36103274	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:36103274T>A	ENST00000315571.5	+	3	286	c.265T>A	c.(265-267)Ttc>Atc	p.F89I	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.F40I|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.F40I	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	89	LDL-receptor class A 2.					integral to membrane	receptor activity	p.F89I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CATTGGTCGCTTCCGGTGCAA	0.527000													37	76					0	0	0.004878	0	0
UBASH3B	84959	broad.mit.edu	37	11	122666894	122666894	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:122666894C>A	ENST00000284273.5	+	8	1519	c.1144C>A	c.(1144-1146)Cag>Aag	p.Q382K		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	382	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity	p.Q382K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GCCCGGCCCCCAGAAGCGATG	0.542000											OREG0021442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	83					3.73988e-18	6.22617e-18	0.006320	1	0
DDX60	55601	broad.mit.edu	37	4	169190053	169190053	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr4:169190053G>A	ENST00000393743.3	-	20	3029	c.2738C>T	c.(2737-2739)cCc>cTc	p.P913L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	913	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.P913L(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGCCAAAAAGGGACATCGGAT	0.358000													29	81					0	0	0.003755	0	0
FAM47C	442444	broad.mit.edu	37	X	37029325	37029325	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:37029325G>T	ENST00000358047.3	+	1	2894	c.2842G>T	c.(2842-2844)Ggg>Tgg	p.G948W		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	948								p.G948W(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCTAAGTTGGGGAAAAAGCT	0.458000													60	118					4.83677e-39	9.12252e-39	0.014410	1	0
UGT3A1	133688	broad.mit.edu	37	5	35957471	35957471	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:35957471C>A	ENST00000274278.3	-	5	1251	c.894G>T	c.(892-894)gtG>gtT	p.V298V	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.V298V|UGT3A1_ENST00000507113.1_Silent_p.V264V	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	298						integral to membrane	glucuronosyltransferase activity	p.V298V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCAAAGGCCACAAGGACAA	0.488000													16	40					6.94344e-10	9.44816e-10	0.006122	1	0
TMEM171	134285	broad.mit.edu	37	5	72419665	72419665	+	Silent	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:72419665C>T	ENST00000454765.2	+	2	938	c.465C>T	c.(463-465)ccC>ccT	p.P155P	TMEM171_ENST00000287773.5_Silent_p.P155P			Q8WVE6	TM171_HUMAN	transmembrane protein 171	155						integral to membrane		p.P155P(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ACTCAGAGCCCCGGATGTGTG	0.562000													46	119					0	0	0.014410	0	0
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716000													5	30					0	0	0.001984	0	0
MYOM2	9172	broad.mit.edu	37	8	2021510	2021510	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr8:2021510G>T	ENST00000262113.4	+	10	1191	c.1050G>T	c.(1048-1050)gaG>gaT	p.E350D	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	350	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle	p.E350D(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGGACGACGAGGGCCTGTACA	0.602000													19	61					3.32936e-07	4.22191e-07	0.006122	1	0
OR2C3	81472	broad.mit.edu	37	1	247695038	247695038	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:247695038A>T	ENST00000366487.3	-	2	1137	c.776T>A	c.(775-777)aTg>aAg	p.M259K	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M258K(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTGGAGATACATGAAGATGAT	0.517000													28	99					0	0	0.004656	0	0
SYT1	6857	broad.mit.edu	37	12	79679569	79679569	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:79679569C>A	ENST00000261205.4	+	5	826	c.169C>A	c.(169-171)Cca>Aca	p.P57T	SYT1_ENST00000393240.3_Missense_Mutation_p.P57T|SYT1_ENST00000457153.2_Missense_Mutation_p.P57T|SYT1_ENST00000552744.1_Missense_Mutation_p.P57T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	57					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P57T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TCTTTCAGTGCCACCGTGGGC	0.373000													22	67					2.89027e-11	4.14086e-11	0.014323	1	0
DTNA	1837	broad.mit.edu	37	18	32400802	32400802	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr18:32400802C>A	ENST00000283365.9	+	10	1275	c.924C>A	c.(922-924)agC>agA	p.S308R	DTNA_ENST00000554864.3_Missense_Mutation_p.S308R|DTNA_ENST00000598334.1_Missense_Mutation_p.S308R|DTNA_ENST00000269191.6_Missense_Mutation_p.S308R|DTNA_ENST00000399113.3_Missense_Mutation_p.S308R|DTNA_ENST00000597599.1_Missense_Mutation_p.S308R|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000599844.1_5'UTR|DTNA_ENST00000444659.1_Missense_Mutation_p.S308R|DTNA_ENST00000597674.1_5'UTR|DTNA_ENST00000269192.7_5'UTR|DTNA_ENST00000591182.1_5'UTR|DTNA_ENST00000598774.1_Missense_Mutation_p.S308R|DTNA_ENST00000595022.1_Missense_Mutation_p.S308R|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000598142.1_Missense_Mutation_p.S308R|DTNA_ENST00000348997.5_Missense_Mutation_p.S308R|DTNA_ENST00000556414.3_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.S308R|DTNA_ENST00000399121.5_Missense_Mutation_p.S308R|DTNA_ENST00000315456.6_Missense_Mutation_p.S308R|DTNA_ENST00000399097.3_5'UTR	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	308					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.S308R(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTCCCTGAGCTGTGCTTCCA	0.468000													26	56					3.6726e-16	6.01338e-16	0.003954	1	0
GPATCH8	23131	broad.mit.edu	37	17	42483385	42483385	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr17:42483385C>T	ENST00000434000.1	-	8	575	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R176Q			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	176						intracellular	nucleic acid binding|zinc ion binding	p.R176Q(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGAGACATTTCGAGCAAACTC	0.423000													4	112					0	0	0.009096	0	0
PTPN4	5775	broad.mit.edu	37	2	120714600	120714600	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:120714600A>T	ENST00000263708.2	+	22	2851	c.2080A>T	c.(2080-2082)Aca>Tca	p.T694S	PTPN4_ENST00000544261.1_Missense_Mutation_p.T327S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	694	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.T694S(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGATGATGCCACACGGGTCAT	0.274000													16	32					0	0	0.004990	0	0
CHEK1	1111	broad.mit.edu	37	11	125499295	125499295	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:125499295C>T	ENST00000534070.1	+	5	619	c.364C>T	c.(364-366)Cat>Tat	p.H122Y	CHEK1_ENST00000544373.1_Missense_Mutation_p.H122Y|CHEK1_ENST00000428830.2_Missense_Mutation_p.H122Y|CHEK1_ENST00000524737.1_Missense_Mutation_p.H122Y|CHEK1_ENST00000427383.2_Missense_Mutation_p.H138Y|CHEK1_ENST00000278916.3_Missense_Mutation_p.H122Y|CHEK1_ENST00000438015.1_Missense_Mutation_p.H122Y|CHEK1_ENST00000532449.1_3'UTR	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	122	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.H122Y(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GGTTTATCTGCATGGTATTGG	0.318000								Other conserved DNA damage response genes					22	54					0	0	0.014323	0	0
LRRC58	116064	broad.mit.edu	37	3	120054769	120054769	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr3:120054769T>C	ENST00000295628.3	-	2	627	c.532A>G	c.(532-534)Att>Gtt	p.I178V		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	178								p.I178V(1)		large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		ATTTCTTTAATGAAATTTCCT	0.318000													28	27					0	0	0.005443	0	0
RIN1	9610	broad.mit.edu	37	11	66099844	66099844	+	Missense_Mutation	SNP	G	G	A	rs3181770		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:66099844G>A	ENST00000311320.4	-	10	2381	c.2255C>T	c.(2254-2256)tCt>tTt	p.S752F	RIN1_ENST00000530056.1_Missense_Mutation_p.S586F|RIN1_ENST00000424433.2_Intron	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	752					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	p.S752F(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGTTGTCTCAGACTGTTCCCG	0.632000													58	100					0	0	0.014410	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101449283	101449283	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr14:101449283G>T	ENST00000554693.2	+	0	717				SNORD114-22_ENST00000365423.1_RNA																							ATGACTACCGGTGGCGTATGA	0.373000													36	79					5.44703e-19	9.22281e-19	0.009718	1	0
GPR26	2849	broad.mit.edu	37	10	125426536	125426536	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:125426536C>A	ENST00000284674.1	+	1	666	c.613C>A	c.(613-615)Cgc>Agc	p.R205S		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	205					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R205S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCATTGCAAGCGCATCGACGT	0.632000													6	9					3.59834e-05	4.30644e-05	0.001168	1	0
PABPC3	5042	broad.mit.edu	37	13	25671157	25671157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr13:25671157C>A	ENST00000281589.3	+	1	858	c.821C>A	c.(820-822)aCg>aAg	p.T274K		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	274					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.T274K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GAACGGCAGACGGAACTTAAG	0.393000													37	89					2.09667e-21	3.63259e-21	0.003755	1	0
OR52M1	119772	broad.mit.edu	37	11	4566472	4566472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr11:4566472G>T	ENST00000360213.1	+	1	52	c.52G>T	c.(52-54)Ggc>Tgc	p.G18C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G18C(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGCTCACTGGCATCCCAGG	0.532000													25	60					2.21704e-12	3.27068e-12	0.002780	1	0
IL17RA	23765	broad.mit.edu	37	22	17589773	17589773	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr22:17589773G>T	ENST00000319363.6	+	13	1797	c.1664G>T	c.(1663-1665)gGg>gTg	p.G555V		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	555					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	p.G555V(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GAGCTGTCGGGGGACAACTAC	0.677000													4	12					0.00909568	0.00975005	0.009096	1	0
RAB9B	51209	broad.mit.edu	37	X	103080666	103080666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:103080666C>A	ENST00000243298.2	-	3	333	c.49G>T	c.(49-51)Gga>Tga	p.G17*		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	17					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	p.G17*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						TTCCCAACTCCACCATCACCC	0.433000													69	170					7.577e-32	1.38303e-31	0.014410	1	0
PKN2	5586	broad.mit.edu	37	1	89270578	89270578	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:89270578A>G	ENST00000370521.3	+	10	1834	c.1475A>G	c.(1474-1476)cAa>cGa	p.Q492R	PKN2_ENST00000370513.5_Missense_Mutation_p.Q444R|PKN2_ENST00000544045.1_Missense_Mutation_p.Q166R|PKN2_ENST00000316005.7_Missense_Mutation_p.Q492R|PKN2_ENST00000370505.3_Missense_Mutation_p.Q335R	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	492					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	p.Q492R(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CTTCAAAGACAAAAGAAAATT	0.264000													13	35					0	0	0.013537	0	0
CSMD1	64478	broad.mit.edu	37	8	4851865	4851865	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:4851865G>A	ENST00000602557.1	-	1	629	c.74C>T	c.(73-75)aCt>aTt	p.T25I	CSMD1_ENST00000602723.1_Missense_Mutation_p.T25I|CSMD1_ENST00000400186.3_Missense_Mutation_p.T25I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T25I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T25I|CSMD1_ENST00000520002.1_Missense_Mutation_p.T25I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T25I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	25						integral to membrane		p.T25I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTCGCTGCAGTGAGGAGCCT	0.657000													10	33					0	0	0.008291	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661726	113661726	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:113661726G>T	ENST00000393544.2	+	0	1774																											TCCTATCTAGGGTCTCCTCAG	0.532000													8	26					5.4927e-09	7.36411e-09	0.004482	1	0
ARHGEF5	7984	broad.mit.edu	37	7	144062360	144062360	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:144062360G>T	ENST00000056217.5	+	2	2772	c.2598G>T	c.(2596-2598)cgG>cgT	p.R866R		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	866					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.R866R(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGAGCACTCGGGGAGGACATA	0.612000													13	122					6.72482e-11	9.47731e-11	0.003163	1	0
GPR101	83550	broad.mit.edu	37	X	136112642	136112642	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:136112642C>G	ENST00000298110.1	-	1	1191	c.1192G>C	c.(1192-1194)Gct>Cct	p.A398P		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	398						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A398P(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ATCACTTTAGCAGCTTTGCAC	0.552000													35	70					0	0	0.013726	0	0
DIO2	1734	broad.mit.edu	37	14	80677806	80677806	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr14:80677806G>T	ENST00000557010.1	-	3	395	c.10C>A	c.(10-12)Ctc>Atc	p.L4I	DIO2_ENST00000557125.1_Missense_Mutation_p.L4I|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000422005.3_Missense_Mutation_p.L4I|DIO2_ENST00000555750.1_Missense_Mutation_p.L4I|DIO2_ENST00000438257.4_Missense_Mutation_p.L4I	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	4					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.L4I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCTACGCTGAGGATGCCCATC	0.522000													6	12					0.00198382	0.0022429	0.001984	1	0
HRNR	388697	broad.mit.edu	37	1	152188100	152188100	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:152188100C>G	ENST00000368801.2	-	3	6080	c.6005G>C	c.(6004-6006)gGc>gCc	p.G2002A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2002					keratinization		calcium ion binding|protein binding	p.G2002A(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTAGCCAGAGGACTG	0.567000													105	1523					0	0	0.007835	0	0
TPH2	121278	broad.mit.edu	37	12	72335413	72335413	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:72335413G>A	ENST00000333850.3	+	2	296	c.155G>A	c.(154-156)aGc>aAc	p.S52N	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	52					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.S52N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AACAAGGGAAGCAGCAAACGT	0.413000													13	43					0	0	0.001855	0	0
XPA	7507	broad.mit.edu	37	9	100455996	100455996	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr9:100455996C>T	ENST00000375128.4	-	2	282	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	73	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	p.G73E(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				AATGAAGCCTCCTCCTGTGTC	0.353000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				15	57					0	0	0.003163	0	0
OR2C3	81472	broad.mit.edu	37	1	247695027	247695027	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:247695027G>T	ENST00000366487.3	-	2	1148	c.787C>A	c.(787-789)Cca>Aca	p.P263T	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P262T(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTCTTGGCTGGCTGGAGATAC	0.527000													27	103					1.66031e-10	2.30767e-10	0.003954	1	0
DIO2	1734	broad.mit.edu	37	14	80677807	80677807	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr14:80677807G>T	ENST00000557010.1	-	3	394	c.9C>A	c.(7-9)atC>atA	p.I3I	DIO2_ENST00000557125.1_Silent_p.I3I|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000422005.3_Silent_p.I3I|DIO2_ENST00000555750.1_Silent_p.I3I|DIO2_ENST00000438257.4_Silent_p.I3I	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	3					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.L4I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTACGCTGAGGATGCCCATCT	0.522000													6	11					0.00198382	0.0022429	0.001984	1	0
KCNV1	27012	broad.mit.edu	37	8	110986332	110986332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:110986332G>T	ENST00000524391.1	-	2	1318	c.286C>A	c.(286-288)Ccc>Acc	p.P96T	KCNV1_ENST00000297404.1_Missense_Mutation_p.P96T|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	96						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.P96T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTGTCCACGGGGTTGGCATCG	0.672000													6	21					0.000157383	0.000184834	0.003080	1	0
ABR	29	broad.mit.edu	37	17	1003898	1003898	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr17:1003898G>C	ENST00000544583.2	-	3	785	c.186C>G	c.(184-186)aaC>aaG	p.N62K	ABR_ENST00000302538.5_Missense_Mutation_p.N108K|ABR_ENST00000291107.2_Missense_Mutation_p.N71K|ABR_ENST00000574437.1_Missense_Mutation_p.N62K	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	108					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.N108K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTTCCAGCTGGTTAATGTAGA	0.582000													11	108					0	0	0.010729	0	0
FAM135B	51059	broad.mit.edu	37	8	139263221	139263221	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:139263221G>T	ENST00000395297.1	-	6	575	c.405C>A	c.(403-405)agC>agA	p.S135R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	135								p.S135R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAGCGTTCGGCTGCTGACCA	0.592000										HNSCC(54;0.14)			39	113					6.2361e-21	1.07974e-20	0.007835	1	0
SNX10	29887	broad.mit.edu	37	7	26400636	26400636	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:26400636G>T	ENST00000338523.4	+	3	253	c.66G>T	c.(64-66)aaG>aaT	p.K22N	SNX10_ENST00000396376.1_Missense_Mutation_p.K22N|SNX10_ENST00000446848.2_Missense_Mutation_p.K48N|SNX10_ENST00000409367.1_5'UTR	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	22	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	p.K22N(1)		endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GGATTCAGAAGGAGGACTTCT	0.358000													13	65					2.32078e-09	3.13928e-09	0.003163	1	0
NLRP13	126204	broad.mit.edu	37	19	56423822	56423822	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:56423822C>A	ENST00000588751.1	-	5	1385	c.1361G>T	c.(1360-1362)aGt>aTt	p.S454I	NLRP13_ENST00000342929.3_Missense_Mutation_p.S454I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	454	NACHT.						ATP binding	p.S454I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGCATACAGACTGGTGGTAGT	0.527000													43	125					6.21074e-16	1.01722e-15	0.011902	1	0
USP38	84640	broad.mit.edu	37	4	144124648	144124648	+	Silent	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:144124648T>C	ENST00000307017.4	+	5	1644	c.1138T>C	c.(1138-1140)Ttg>Ctg	p.L380L	USP38_ENST00000510377.1_Silent_p.L380L	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	380					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.L380L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATTAACAGAATTGATACACTG	0.333000													32	63					0	0	0.013726	0	0
PABPC3	5042	broad.mit.edu	37	13	25671157	25671157	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr13:25671157C>A	ENST00000281589.3	+	1	858	c.821C>A	c.(820-822)aCg>aAg	p.T274K		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	274					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.T274K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GAACGGCAGACGGAACTTAAG	0.393000													37	89					2.09667e-21	3.67219e-21	0.003755	1	0
OTOGL	283310	broad.mit.edu	37	12	80623041	80623041	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:80623041A>G	ENST00000458043.2	+	7	473	c.467A>G	c.(466-468)cAt>cGt	p.H156R	OTOGL_ENST00000547103.1_Missense_Mutation_p.H156R	NM_173591.3	NP_775862.3			otogelin-like									p.H156R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTAAGGTTCATAACAGCCCT	0.318000													59	125					0	0	0.014410	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130649020	130649020	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr9:130649020T>C	ENST00000373146.1	-	7	1039	c.860A>G	c.(859-861)aAg>aGg	p.K287R	ST6GALNAC6_ENST00000485320.1_5'UTR|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.K253R|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R286G|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.K253R|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.K87R|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.K287R			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	287					protein glycosylation	integral to Golgi membrane|plasma membrane		p.K287R(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCCGGCCCCTTGGGCTCGTA	0.632000													3	74					0	0	0.009096	0	0
FAT1	2195	broad.mit.edu	37	4	187628565	187628565	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:187628565C>T	ENST00000441802.2	-	2	2626	c.2417G>A	c.(2416-2418)cGt>cAt	p.R806H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	806	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.R806H(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGTAGAAGACGCCACGCAGC	0.443000										HNSCC(5;0.00058)			55	153					0	0	0.014410	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996498	143996498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:143996498C>T	ENST00000323110.2	-	3	561	c.559G>A	c.(559-561)Gac>Aac	p.D187N		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	187					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.D187N(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCTGGACGTCCAGGGTCAGG	0.642000									Familial Hyperaldosteronism type I				6	23					0	0	0.001168	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310721	61310721	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr18:61310721G>T	ENST00000341074.5	-	2	206	c.91C>A	c.(91-93)Cct>Act	p.P31T	SERPINB4_ENST00000356424.6_Missense_Mutation_p.P31T	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.P31T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ATGCTGATAGGGGAATAGAAG	0.423000													41	107					2.2871e-25	4.10053e-25	0.007835	1	0
OR4D5	219875	broad.mit.edu	37	11	123810710	123810710	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:123810710C>A	ENST00000307033.2	+	1	461	c.387C>A	c.(385-387)ccC>ccA	p.P129P		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P129P(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTTCCCAGCCCCTGCACTACA	0.507000													33	103					5.43694e-19	9.27219e-19	0.005524	1	0
IBTK	25998	broad.mit.edu	37	6	82936912	82936912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr6:82936912G>T	ENST00000306270.7	-	5	1200	c.651C>A	c.(649-651)tgC>tgA	p.C217*	IBTK_ENST00000510291.1_Nonsense_Mutation_p.C217*|IBTK_ENST00000503631.1_Nonsense_Mutation_p.C217*	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	217					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	p.C217*(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CAATTACCAAGCATGTCTGTT	0.358000													22	62					7.87624e-14	1.24297e-13	0.002780	1	0
TNC	3371	broad.mit.edu	37	9	117810558	117810558	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr9:117810558C>G	ENST00000350763.4	-	16	5244	c.4833G>C	c.(4831-4833)ttG>ttC	p.L1611F	TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.L1247F|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1611	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.L1611F(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTCAGCCCTCAAGGGCTTGG	0.493000													5	194					0	0	0.001168	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703953	156703953	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:156703953G>T	ENST00000368216.4	+	6	1419	c.789G>T	c.(787-789)ctG>ctT	p.L263L	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	263						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	p.L263L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GTGGGGATCTGAGTGTTGCCT	0.632000													17	40					4.14922e-12	6.07349e-12	0.004007	1	0
WWC3	55841	broad.mit.edu	37	X	10093091	10093091	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:10093091C>A	ENST00000380861.4	+	14	2245	c.1854C>A	c.(1852-1854)ctC>ctA	p.L618L	WWC3_ENST00000454666.1_Silent_p.L618L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	618	C2.							p.L618L(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGTGTCTCCTCGTGCACGTGC	0.622000													8	17					2.74318e-10	3.77811e-10	0.006214	1	0
C1orf173	127254	broad.mit.edu	37	1	75097536	75097536	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:75097536A>C	ENST00000326665.5	-	7	898	c.680T>G	c.(679-681)aTt>aGt	p.I227S	C1orf173_ENST00000420661.2_Missense_Mutation_p.I30S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	227								p.I227S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTAACTGTTAATGTTTGGAAG	0.398000													38	63					0	0	0.004289	0	0
EDA	1896	broad.mit.edu	37	X	69255353	69255353	+	Missense_Mutation	SNP	G	G	T	rs61747506		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:69255353G>T	ENST00000374552.4	+	8	1312	c.1070G>T	c.(1069-1071)cGg>cTg	p.R357L	EDA_ENST00000374553.2_Missense_Mutation_p.R355L|EDA_ENST00000524573.1_Missense_Mutation_p.R352L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	357			R -> P (in ED1).		cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	p.R357L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTCAAGGCCCGGCAGAAGATC	0.582000													17	55					3.45872e-05	4.17526e-05	0.004007	1	0
OR6N1	128372	broad.mit.edu	37	1	158736422	158736422	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:158736422G>T	ENST00000335094.2	-	1	70	c.51C>A	c.(49-51)ttC>ttA	p.F17L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F17L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGAGATGGGGGAAGCCCAAGA	0.483000													14	43					1.52009e-12	2.2689e-12	0.003163	1	0
ACSM5	54988	broad.mit.edu	37	16	20435240	20435240	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr16:20435240G>T	ENST00000331849.4	+	6	917	c.770G>T	c.(769-771)cGg>cTg	p.R257L		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	257					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R257L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTTGGCAGACGGTGGGTGGCC	0.483000													44	160					4.53413e-08	5.97322e-08	0.013114	1	0
ARC	23237	broad.mit.edu	37	8	143695608	143695608	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:143695608C>A	ENST00000356613.2	-	1	1225	c.25G>T	c.(25-27)Ggc>Tgc	p.G9C		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	9					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		p.G9F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGGAGCCCGCCGCTGGTCCGG	0.736000													7	14					0.00307968	0.00343067	0.003080	1	0
TTN	7273	broad.mit.edu	37	2	179648491	179648491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:179648491G>T	ENST00000589042.1	-	17	3021	c.2797C>A	c.(2797-2799)Cca>Aca	p.P933T	TTN_ENST00000342175.6_Missense_Mutation_p.P887T|TTN_ENST00000591111.1_Missense_Mutation_p.P933T|TTN_ENST00000359218.5_Missense_Mutation_p.P887T|TTN_ENST00000460472.2_Missense_Mutation_p.P887T|TTN_ENST00000360870.5_Missense_Mutation_p.P933T|TTN_ENST00000342992.6_Missense_Mutation_p.P933T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	933							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P887T(3)|p.P933T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGGTGCTGGTACTCTTGCT	0.348000													22	83					7.92952e-12	1.15512e-11	0.003954	1	0
RIMS2	9699	broad.mit.edu	37	8	105025815	105025815	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:105025815G>C	ENST00000507740.1	+	16	2868	c.2632G>C	c.(2632-2634)Gga>Cga	p.G878R	RIMS2_ENST00000262231.10_Missense_Mutation_p.G903R|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1064R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1126	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G878R(2)|p.G1131R(1)|p.G1064R(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAATGACTGGAAGATCTGC	0.488000										HNSCC(12;0.0054)			29	63					0	0	0.009535	0	0
SEMA3D	223117	broad.mit.edu	37	7	84666213	84666213	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:84666213G>C	ENST00000284136.6	-	10	1226	c.1183C>G	c.(1183-1185)Cct>Gct	p.P395A	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	395	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.P395A(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ACTGTACCAGGCCGTGGATAA	0.363000													16	51					0	0	0.004007	0	0
MAP1B	4131	broad.mit.edu	37	5	71490202	71490202	+	Silent	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:71490202C>T	ENST00000296755.7	+	5	1318	c.1020C>T	c.(1018-1020)acC>acT	p.T340T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	340						microtubule|microtubule associated complex	structural molecule activity	p.T340T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGGCTCCACCACAAATAGTG	0.448000													20	45					0	0	0.008871	0	0
C5	727	broad.mit.edu	37	9	123783854	123783854	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr9:123783854C>A	ENST00000223642.1	-	11	1264	c.1235G>T	c.(1234-1236)cGt>cTt	p.R412L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	412					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.R412L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ATCATCAACACGTGTTACACT	0.433000													19	59					1.96292e-10	2.71582e-10	0.010504	1	0
OR8S1	341568	broad.mit.edu	37	12	48921695	48921695	+	Splice_Site	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:48921695G>A	ENST00000310194.1	+	2	889	c.888_splice	c.e2-1	p.G297_splice	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G297R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTGTTACAAGGGGGAAAGAAG	0.468000													19	45					0	0	0.008871	0	0
CHST8	64377	broad.mit.edu	37	19	34263296	34263296	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:34263296C>A	ENST00000262622.3	+	4	1361	c.603C>A	c.(601-603)ggC>ggA	p.G201G	CHST8_ENST00000434302.1_Silent_p.G201G|CHST8_ENST00000438847.2_Silent_p.G201G	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	201					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.G201G(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAAGGCCGGCTGCTCCAATT	0.687000													6	94					5.18039e-06	6.43303e-06	0.003080	1	0
CWH43	80157	broad.mit.edu	37	4	49005982	49005982	+	Missense_Mutation	SNP	G	G	T	rs139364544		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:49005982G>T	ENST00000226432.4	+	7	1216	c.1033G>T	c.(1033-1035)Gct>Tct	p.A345S	CWH43_ENST00000513409.1_Missense_Mutation_p.A318S	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	345					GPI anchor biosynthetic process	integral to membrane		p.A345S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGGTGTCTACGCTAGAGAAAG	0.393000													9	23					0.000442599	0.000509915	0.006214	1	0
FOXS1	2307	broad.mit.edu	37	20	30433325	30433325	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr20:30433325G>A	ENST00000375978.3	-	1	95	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	7					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P7P(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGCCAGGCCCGGGCAGAGGCT	0.682000													26	44					0	0	0.006320	0	0
NFKBID	84807	broad.mit.edu	37	19	36387872	36387872	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:36387872G>A	ENST00000396901.1	-	5	668	c.95C>T	c.(94-96)gCt>gTt	p.A32V	NFKBID_ENST00000606253.1_Missense_Mutation_p.A32V|NFKBID_ENST00000352614.2_Missense_Mutation_p.A184V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	32					inflammatory response	nucleus		p.A32V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CAGCATGTGAGCTCGGGCCAC	0.622000													24	86					0	0	0.014323	0	0
GFRA1	2674	broad.mit.edu	37	10	118029077	118029077	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr10:118029077G>T	ENST00000439649.3	-	4	723	c.356C>A	c.(355-357)tCc>tAc	p.S119Y	GFRA1_ENST00000369236.1_Missense_Mutation_p.S119Y|GFRA1_ENST00000355422.6_Missense_Mutation_p.S119Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	119					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.S119Y(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TTCATATGGGGAATCCTCCAG	0.393000													9	29					7.48243e-07	9.44657e-07	0.006214	1	0
MUC16	94025	broad.mit.edu	37	19	9091467	9091467	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:9091467G>T	ENST00000397910.4	-	1	551	c.348C>A	c.(346-348)aaC>aaA	p.N116K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	116	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.N116K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCAGGGTAGTTCCTAGAGG	0.502000													73	54					3.12118e-38	5.87403e-38	0.014410	1	0
ACTR1A	10121	broad.mit.edu	37	10	104244124	104244124	+	Silent	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr10:104244124T>A	ENST00000369905.4	-	6	513	c.450A>T	c.(448-450)acA>acT	p.T150T	ACTR1A_ENST00000545684.1_Silent_p.T76T|ACTR1A_ENST00000487599.1_Silent_p.T150T|ACTR1A_ENST00000446605.2_Silent_p.T103T	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	150					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding	p.T150T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGGTCCTGCCTGTAGCGTAAC	0.537000													9	20					0	0	0.006214	0	0
FAM208B	54906	broad.mit.edu	37	10	5782228	5782228	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr10:5782228C>T	ENST00000328090.5	+	13	2720	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	699								p.R699W(1)									CATGCCATTTCGGCATCAGCC	0.532000													6	76					0	0	0.003080	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589383	140589383	+	Missense_Mutation	SNP	A	A	T	rs147813756		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:140589383A>T	ENST00000239450.2	+	1	1093	c.904A>T	c.(904-906)Act>Tct	p.T302S	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		302	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T302S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGACATTACTTTAACAGC	0.368000													38	83					0	0	0.003755	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630545	51630545	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:51630545C>A	ENST00000440804.3	+	4	1074	c.1007C>A	c.(1006-1008)tCc>tAc	p.S336Y	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.S336Y	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	336	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.S336Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTGAACGTCTCCCTGCAGAGT	0.597000													4	9					0.00909568	0.0098781	0.009096	1	0
TEX13A	56157	broad.mit.edu	37	X	104463890	104463890	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:104463890G>T	ENST00000372578.3	-	3	1099	c.988C>A	c.(988-990)Cgc>Agc	p.R330S	TEX13A_ENST00000372575.1_Missense_Mutation_p.R330S|TEX13A_ENST00000413579.1_Missense_Mutation_p.P329Q|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAGCTGAGGCGGAACTGGTGC	0.542000													26	60					6.12954e-19	1.03757e-18	0.004656	1	0
FCGBP	8857	broad.mit.edu	37	19	40433188	40433188	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:40433188C>T	ENST00000221347.6	-	2	1088	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	361	IgGFc-binding.					extracellular region	protein binding	p.V361M(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCTGTGCCACTACCAGGGCC	0.607000													9	46					0	0	0.006214	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505453	44505453	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr20:44505453G>A	ENST00000255152.2	+	2	465	c.256G>A	c.(256-258)Gag>Aag	p.E86K	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.E80K	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	86							zinc ion binding	p.E86K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AAGGTACAACGAGAGACTAGA	0.473000													19	101					0	0	0.008871	0	0
LAMB1	3912	broad.mit.edu	37	7	107600230	107600230	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:107600230G>T	ENST00000393561.1	-	17	2620	c.2436C>A	c.(2434-2436)aaC>aaA	p.N812K	LAMB1_ENST00000393560.1_Missense_Mutation_p.N788K|LAMB1_ENST00000222399.6_Missense_Mutation_p.N788K			P07942	LAMB1_HUMAN	laminin, beta 1	788	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.N788N(1)|p.N788K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGGCCTCCGTTGGGATCAC	0.562000													11	20					1.05317e-09	1.43099e-09	0.002450	1	0
ALK	238	broad.mit.edu	37	2	29455189	29455189	+	Missense_Mutation	SNP	G	G	T	rs150557024	byFrequency	TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:29455189G>T	ENST00000389048.3	-	15	3519	c.2613C>A	c.(2611-2613)aaC>aaA	p.N871K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	871	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.N871K(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CGGAATTGCCGTTTAGCCCTA	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	49					9.39395e-14	1.4748e-13	0.006320	1	0
RIMS2	9699	broad.mit.edu	37	8	104930687	104930687	+	Silent	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:104930687T>C	ENST00000507740.1	+	7	1715	c.1479T>C	c.(1477-1479)ccT>ccC	p.P493P	RIMS2_ENST00000262231.10_Silent_p.P540P|RIMS2_ENST00000436393.2_Silent_p.P463P|RIMS2_ENST00000406091.3_Silent_p.P685P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	763					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P493P(2)|p.P685P(1)|p.P768P(1)|p.P463P(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCGAATACCTGATAGCACAC	0.294000										HNSCC(12;0.0054)			3	87					0	0	0.009096	0	0
ENOX1	55068	broad.mit.edu	37	13	43930271	43930271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr13:43930271C>A	ENST00000261488.6	-	8	1184	c.607G>T	c.(607-609)Ggg>Tgg	p.G203W	ENOX1_ENST00000412891.1_Missense_Mutation_p.G203W|ENOX1_ENST00000540032.1_Missense_Mutation_p.G16W	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	203	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.G203W(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTGCTAGACCCTAATCGCATC	0.502000													10	33					0.000673444	0.000770013	0.008291	1	0
COL11A1	1301	broad.mit.edu	37	1	103364517	103364517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:103364517G>A	ENST00000358392.2	-	55	4473	c.4156C>T	c.(4156-4158)Caa>Taa	p.Q1386*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q1258*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q1374*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1335*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1374	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.Q1374*(1)|p.Q1386*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTCACCTTGTCTTCCCTCT	0.269000													8	35					0	0	0.003080	0	0
IGHG2	3501	broad.mit.edu	37	14	106110084	106110084	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr14:106110084C>A	ENST00000390545.2	-	0	533																											CCACACGGAACGTGCTGTTGA	0.597000													84	206					7.68447e-34	1.41975e-33	0.014410	1	0
TCEAL5	340543	broad.mit.edu	37	X	102529326	102529326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:102529326C>A	ENST00000372680.1	-	3	460	c.166G>T	c.(166-168)Gat>Tat	p.D56Y		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	56	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.D56Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						tctccctcatcctctcgcttt	0.522000													26	91					6.32553e-13	9.63134e-13	0.004656	1	0
IGHV7-81	28378	broad.mit.edu	37	14	107282967	107282967	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr14:107282967G>T	ENST00000390639.2	-	0	229																											TTGTCCAGGGGCCTGTGGCAC	0.552000													46	115					6.07928e-31	1.10301e-30	0.009718	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454347	84454347	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr13:84454347G>T	ENST00000377084.2	-	1	2181	c.1296C>A	c.(1294-1296)agC>agA	p.S432R		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	432						integral to membrane		p.S432R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAGGTAATTGCTATCCATGT	0.498000													39	112					3.78316e-11	5.40706e-11	0.006230	1	0
EFCAB6	64800	broad.mit.edu	37	22	43986047	43986047	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr22:43986047T>G	ENST00000262726.7	-	24	3192	c.2939A>C	c.(2938-2940)aAa>aCa	p.K980T	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K828T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	980	EF-hand 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.K980T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTAGTTGGTTTTGGATTGATC	0.428000													3	97					0	0	0.009096	0	0
CACNA1C	775	broad.mit.edu	37	12	2797830	2797830	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:2797830G>A	ENST00000399655.1	+	46	6267	c.6002G>A	c.(6001-6003)gGt>gAt	p.G2001D	CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G2021D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G2001D|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G2049D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G2009D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G2009D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G2001D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G2072D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G2007D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G2036D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G2001D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G2018D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G2042D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G2020D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G2036D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G2020D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G2020D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G2029D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G2001D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G2026D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G2072D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G2001D	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2084					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.G2036D(1)|p.G1536D(1)|p.G2049D(1)|p.G2114D(1)|p.G2042D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACCACCCCCGGTGGCGGGGGC	0.711000													11	25					0	0	0.010729	0	0
SLC2A9	56606	broad.mit.edu	37	4	9998467	9998467	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:9998467T>C	ENST00000506583.1	-	5	478	c.261A>G	c.(259-261)atA>atG	p.I87M	SLC2A9_ENST00000264784.3_Missense_Mutation_p.I116M|SLC2A9_ENST00000309065.3_Missense_Mutation_p.I87M			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	116					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.I116M(1)|p.I87M(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CGATGGCGAATATGGACACAG	0.498000													14	43					0	0	0.006122	0	0
CGA	1081	broad.mit.edu	37	6	87795485	87795485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr6:87795485G>T	ENST00000369582.2	-	4	440	c.340C>A	c.(340-342)Cac>Aac	p.H114N		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	114					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.H114N(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TAAGATTTGTGATAATAACAA	0.368000													9	14					2.17888e-05	2.6408e-05	0.006214	1	0
MOV10L1	54456	broad.mit.edu	37	22	50547205	50547205	+	Silent	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr22:50547205A>T	ENST00000262794.5	+	5	758	c.675A>T	c.(673-675)gcA>gcT	p.A225A	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.A225A|MOV10L1_ENST00000545383.1_Silent_p.A225A|MOV10L1_ENST00000540615.1_Silent_p.A205A	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	225					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.A225A(1)|p.A205A(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGTCAATGCAGTGGTGGTGG	0.532000													25	67					0	0	0.003954	0	0
MYOM2	9172	broad.mit.edu	37	8	2044147	2044147	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:2044147T>A	ENST00000262113.4	+	18	2327	c.2186T>A	c.(2185-2187)cTc>cAc	p.L729H	MYOM2_ENST00000523438.1_Missense_Mutation_p.L154H	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	729	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle	p.L729H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCATGACCCTCGGCTGGAAG	0.572000													25	76					0	0	0.003954	0	0
OR8I2	120586	broad.mit.edu	37	11	55861219	55861219	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:55861219G>T	ENST00000302124.2	+	1	467	c.436G>T	c.(436-438)Gta>Tta	p.V146L	OR8I2_ENST00000560768.1_Missense_Mutation_p.V146L			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V146L(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGGCTGGGAGTAATGCCATA	0.433000													30	97					1.55811e-20	2.68243e-20	0.008361	1	0
PREX1	57580	broad.mit.edu	37	20	47276591	47276591	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr20:47276591T>G	ENST00000396220.1	-	16	1769	c.1747A>C	c.(1747-1749)Aag>Cag	p.K583Q	PREX1_ENST00000371941.3_Missense_Mutation_p.K583Q			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	583	DEP 2.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.K583Q(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AACTCGCTCTTCTCCAGCACT	0.532000													3	90					0	0	0.004672	0	0
CNTN3	5067	broad.mit.edu	37	3	74414733	74414733	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr3:74414733G>C	ENST00000263665.6	-	8	1094	c.1067C>G	c.(1066-1068)gCa>gGa	p.A356G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	356	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.A356G(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CACCAGGGCTGCTCCATTTTT	0.483000													123	145					0	0	0.014410	0	0
KCNU1	157855	broad.mit.edu	37	8	36703176	36703176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:36703176G>T	ENST00000399881.3	+	17	1819	c.1782G>T	c.(1780-1782)aaG>aaT	p.K594N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	594						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.K594N(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACTCCAAAGGACGTCAGAA	0.408000													10	45					2.52707e-12	3.73513e-12	0.006214	1	0
BAHD1	22893	broad.mit.edu	37	15	40751953	40751953	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr15:40751953C>A	ENST00000561234.1	+	2	1549	c.1290C>A	c.(1288-1290)caC>caA	p.H430Q	BAHD1_ENST00000560846.1_Missense_Mutation_p.H430Q|BAHD1_ENST00000416165.1_Missense_Mutation_p.H430Q			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	430					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	p.P431fs*16(1)|p.H430Q(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTTTCCAGCACCCTCCCTGGG	0.627000													3	50					0.004672	0.00512904	0.004672	1	0
PRR15	222171	broad.mit.edu	37	7	29605982	29605982	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:29605982T>C	ENST00000319694.2	+	2	749	c.37T>C	c.(37-39)Tgg>Cgg	p.W13R		NM_175887.2	NP_787083.1	Q8IV56	PRR15_HUMAN	proline rich 15	13					multicellular organismal development			p.W13R(1)		endometrium(1)|lung(1)|skin(1)	3						CTCCGGCCCCTGGTGGAAATC	0.701000													6	17					0	0	0.004482	0	0
CHD6	84181	broad.mit.edu	37	20	40050551	40050551	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr20:40050551C>A	ENST00000373233.3	-	31	4901	c.4724G>T	c.(4723-4725)tGg>tTg	p.W1575L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1575					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.W1575L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCCACACTCCCACCAGACTGG	0.567000													11	35					3.86212e-05	4.62538e-05	0.008291	1	0
NXPE2	120406	broad.mit.edu	37	11	114569375	114569375	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:114569375C>A	ENST00000375475.5	+	3	839	c.741C>A	c.(739-741)gaC>gaA	p.D247E	NXPE2_ENST00000389586.4_Missense_Mutation_p.D247E					neurexophilin and PC-esterase domain family, member 2									p.D247E(2)									ACATGGATGACAGAGACCAAG	0.473000													15	40					6.72482e-11	9.47731e-11	0.003163	1	0
SIAH2	6478	broad.mit.edu	37	3	150460021	150460021	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr3:150460021G>A	ENST00000312960.3	-	2	1409	c.882C>T	c.(880-882)agC>agT	p.S294S		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	294	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.S294S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAAGGCAGTCGCTGTTCATGA	0.498000													25	20					0	0	0.003330	0	0
SLC25A42	284439	broad.mit.edu	37	19	19215725	19215725	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:19215725C>T	ENST00000318596.7	+	4	342	c.191C>T	c.(190-192)tCt>tTt	p.S64F	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	64					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.S64F(1)		cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TTTCCAGTGTCTTCAAAAAGA	0.557000													12	11					0	0	0.002450	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589621	67589621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:67589621G>T	ENST00000521381.1	+	11	2000	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*	PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.E99*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.E162*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.E192*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.E462*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.E462*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.E462*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	462					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.E162*(1)|p.E192*(1)|p.0?(1)|p.?(1)|p.E462*(1)|p.E462_R465delEYDR(1)|p.T454_D464del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAAAGTCGAGAATATGATAG	0.284000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			26	58					3.6726e-16	6.04782e-16	0.003954	1	0
ATP7A	538	broad.mit.edu	37	X	77289241	77289241	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:77289241G>C	ENST00000341514.6	+	17	3588	c.3433G>C	c.(3433-3435)Gca>Cca	p.A1145P	ATP7A_ENST00000343533.5_Missense_Mutation_p.A1067P|ATP7A_ENST00000350425.4_Missense_Mutation_p.A148P	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1145					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.A1145P(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TATTAAAAATGCATCCCTGGT	0.373000													44	106					0	0	0.009718	0	0
CPLX4	339302	broad.mit.edu	37	18	56963966	56963966	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr18:56963966G>T	ENST00000299721.3	-	3	633	c.447C>A	c.(445-447)atC>atA	p.I149I	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	149					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	p.I149I(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTGTCTGCTTGATTTCAGTGA	0.498000													13	44					1.5739e-10	2.19765e-10	0.004007	1	0
COL4A1	1282	broad.mit.edu	37	13	110817329	110817329	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr13:110817329C>A	ENST00000375820.4	-	46	4151	c.4030G>T	c.(4030-4032)Ggt>Tgt	p.G1344C		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1344	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.G1344C(1)|p.G987C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGAGGACCCGGGAGACCT	0.592000													6	24					4.096e-09	5.51595e-09	0.001168	1	0
CCKBR	887	broad.mit.edu	37	11	6292734	6292734	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:6292734G>C	ENST00000525462.1	+	4	1515	c.1512G>C	c.(1510-1512)agG>agC	p.R504S	CCKBR_ENST00000334619.2_Missense_Mutation_p.R435S|CCKBR_ENST00000532715.1_Missense_Mutation_p.R351S			P32239	GASR_HUMAN	cholecystokinin B receptor	435					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.R435S(1)|p.R504S(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGCTGTCCAGGCTTAGCTACA	0.637000													13	35					0	0	0.003163	0	0
VRTN	55237	broad.mit.edu	37	14	74825221	74825221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr14:74825221G>T	ENST00000256362.4	+	2	1976	c.1735G>T	c.(1735-1737)Gag>Tag	p.E579*		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	579					transposition, DNA-mediated		DNA binding|transposase activity	p.E579*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCAGGAGAAGGAGGCTGGCAG	0.642000													23	63					1.17739e-12	1.77488e-12	0.005443	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4657319	4657319	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:4657319T>G	ENST00000228843.9	+	6	482	c.432T>G	c.(430-432)aaT>aaG	p.N144K	RAD51AP1_ENST00000544927.1_Missense_Mutation_p.N127K|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.N127K|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.N144K|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.N9K	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	144					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	p.N127K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			ATATCTCTAATTGCAGTGTAG	0.274000													8	126					0	0	0.003080	0	0
OR4M2	390538	broad.mit.edu	37	15	22369024	22369024	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr15:22369024G>T	ENST00000332663.2	+	1	547	c.449G>T	c.(448-450)aGg>aTg	p.R150M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCTCCTGGAGGGGGGGCTTC	0.502000													54	493					4.13886e-29	7.46473e-29	0.014410	1	0
VIT	5212	broad.mit.edu	37	2	37035875	37035875	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:37035875G>T	ENST00000379242.3	+	15	1952	c.1650G>T	c.(1648-1650)ggG>ggT	p.G550G	VIT_ENST00000497382.1_Silent_p.G204G|VIT_ENST00000389975.3_Silent_p.G535G|VIT_ENST00000404084.1_Silent_p.G487G|VIT_ENST00000379241.3_Silent_p.G513G|VIT_ENST00000401530.1_Silent_p.G514G	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	535	VWFA 2.					proteinaceous extracellular matrix		p.G550G(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CGCGCATCGGGGCCGTGCAGT	0.582000													14	46					4.93089e-13	7.58406e-13	0.002450	1	0
GABRQ	55879	broad.mit.edu	37	X	151818269	151818269	+	Silent	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:151818269T>A	ENST00000370306.2	+	6	695	c.675T>A	c.(673-675)acT>acA	p.T225T		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	225						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.T225T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACATGACTGAGGAGCTGC	0.478000													47	116					0	0	0.014410	0	0
PNMA3	29944	broad.mit.edu	37	X	152226785	152226785	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:152226785C>T	ENST00000447306.1	+	2	1709	c.1373C>T	c.(1372-1374)cCc>cTc	p.P458L	PNMA3_ENST00000370265.4_Intron|PNMA3_ENST00000370264.4_Missense_Mutation_p.P458L	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	458					apoptosis	nucleolus	nucleic acid binding|zinc ion binding	p.P458L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGCCATCCCAAGTCCAAG	0.532000													64	112					0	0	0.014410	0	0
HEATR5B	54497	broad.mit.edu	37	2	37302722	37302722	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:37302722C>T	ENST00000233099.5	-	5	598	c.503G>A	c.(502-504)gGt>gAt	p.G168D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G168D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	168							binding	p.G168D(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGCTGCACCACCCAGTCCACT	0.413000													27	105					0	0	0.004656	0	0
STK11	6794	broad.mit.edu	37	19	1220640	1220640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:1220640C>T	ENST00000326873.7	+	5	1831	c.658C>T	c.(658-660)Cag>Tag	p.Q220*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	220	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Q220*(4)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCTTTCCAGCCGCCCGA	0.711000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			13	10					0	0	0.001855	0	0
ADD2	119	broad.mit.edu	37	2	70906010	70906010	+	Silent	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:70906010C>G	ENST00000264436.3	-	11	1653	c.1209G>C	c.(1207-1209)acG>acC	p.T403T	ADD2_ENST00000407644.2_Silent_p.T403T|ADD2_ENST00000355733.3_Silent_p.T403T|ADD2_ENST00000430656.1_Silent_p.T419T|ADD2_ENST00000413157.2_Silent_p.T403T	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	403					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.T403T(2)|p.T419T(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGCTGTGACCGTGGCTGGAA	0.542000													17	121					0	0	0.004007	0	0
LAP3	51056	broad.mit.edu	37	4	17590484	17590484	+	Silent	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:17590484C>T	ENST00000226299.4	+	7	1021	c.747C>T	c.(745-747)ctC>ctT	p.L249L	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Silent_p.L218L	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	249					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	p.L249L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GATCATTCCTCAGTGTGGCCA	0.443000													30	80					0	0	0.010818	0	0
CACNG5	27091	broad.mit.edu	37	17	64876776	64876776	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr17:64876776T>G	ENST00000533854.1	+	4	623	c.386T>G	c.(385-387)aTa>aGa	p.I129R	CACNG5_ENST00000307139.3_Missense_Mutation_p.I129R|CACNG5_ENST00000169565.3_Missense_Mutation_p.I129R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	129					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	p.I129R(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACCGGACGATACTGGCCTTT	0.438000													65	153					0	0	0.014410	0	0
MCRS1	10445	broad.mit.edu	37	12	49954103	49954103	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:49954103C>G	ENST00000550165.1	-	10	1122	c.856G>C	c.(856-858)Gac>Cac	p.D286H	MCRS1_ENST00000546244.1_Missense_Mutation_p.D95H|MCRS1_ENST00000357123.4_Missense_Mutation_p.D299H|MCRS1_ENST00000343810.4_Missense_Mutation_p.D286H|MCRS1_ENST00000547182.1_5'UTR			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	286					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	p.D299H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TCAATCAGGTCCTCTGCATCA	0.577000													107	291					0	0	0.014410	0	0
ZNF423	23090	broad.mit.edu	37	16	49672667	49672667	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr16:49672667C>A	ENST00000561648.1	-	4	449	c.396G>T	c.(394-396)ggG>ggT	p.G132G	ZNF423_ENST00000562520.1_Silent_p.G72G|ZNF423_ENST00000262383.2_Silent_p.G132G|ZNF423_ENST00000567169.1_Silent_p.G15G|ZNF423_ENST00000535559.1_Silent_p.G15G|ZNF423_ENST00000563137.2_Silent_p.G72G|ZNF423_ENST00000562871.1_Silent_p.G72G	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	132					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G132G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCCCGTGCCCCCTTCCTCCT	0.607000													14	42					4.3838e-07	5.55771e-07	0.001855	1	0
ZMYM3	9203	broad.mit.edu	37	X	70464286	70464286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:70464286G>T	ENST00000373998.1	-	20	3807	c.3110C>A	c.(3109-3111)tCc>tAc	p.S1037Y	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.S1049Y|ZMYM3_ENST00000373988.1_Missense_Mutation_p.S1051Y|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S1049Y|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S1051Y	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1049					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.S1049Y(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGAGTCCCGGGAGCAGCTTTC	0.537000													16	24					1.15088e-07	1.47761e-07	0.004007	1	0
ZNF678	339500	broad.mit.edu	37	1	227843491	227843491	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:227843491G>T	ENST00000343776.4	+	4	1885	c.1540G>T	c.(1540-1542)Gag>Tag	p.E514*	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.E569*			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	569					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E514*(1)|p.E569*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTATACTGGAGAGGAACCTGA	0.323000													15	65					6.31663e-08	8.24973e-08	0.003163	1	0
C8B	732	broad.mit.edu	37	1	57411544	57411544	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:57411544C>A	ENST00000543257.1	-	8	1465	c.899G>T	c.(898-900)gGc>gTc	p.G300V	C8B_ENST00000535057.1_Missense_Mutation_p.G290V|C8B_ENST00000371237.4_Missense_Mutation_p.G352V	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	352	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G352V(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTCATAAATGCCCCCAAGCAC	0.517000													32	56					9.65021e-13	1.46201e-12	0.010818	1	0
ADCY4	196883	broad.mit.edu	37	14	24800251	24800251	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr14:24800251G>C	ENST00000396747.3	-	6	997	c.110C>G	c.(109-111)tCt>tGt	p.S37C	ADCY4_ENST00000310677.4_Silent_p.L301L|ADCY4_ENST00000418030.2_Silent_p.L301L|ADCY4_ENST00000554068.2_Silent_p.L301L			Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	345					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.L301L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTTGCCAAAGAGCTCATTGA	0.577000													16	25					0	0	0.004007	0	0
PRKDC	5591	broad.mit.edu	37	8	48767902	48767902	+	Silent	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:48767902T>C	ENST00000314191.2	-	51	6695	c.6639A>G	c.(6637-6639)cgA>cgG	p.R2213R	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.R2213R	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2214					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.R2214R(1)|p.R2213R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AATTAAGCAATCGATTTGCTA	0.368000								Non-homologous end-joining					7	10					0	0	0.003080	0	0
GAPDHS	26330	broad.mit.edu	37	19	36034719	36034719	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:36034719C>A	ENST00000222286.4	+	9	1162	c.1046C>A	c.(1045-1047)aCc>aAc	p.T349N	AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	349					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	p.T349N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CTTGCCTACACCGAGGATGAG	0.622000													18	16					5.3912e-06	6.66749e-06	0.006122	1	0
KCNH2	3757	broad.mit.edu	37	7	150644119	150644119	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:150644119T>C	ENST00000392968.2	-	12	4008	c.2888A>G	c.(2887-2889)gAc>gGc	p.D963G	KCNH2_ENST00000330883.4_Missense_Mutation_p.D719G|KCNH2_ENST00000262186.5_Missense_Mutation_p.D1059G			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1059					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.D1059G(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGTGGCCATGTCTGCACTCAG	0.662000													27	47					0	0	0.003954	0	0
POTEC	388468	broad.mit.edu	37	18	14542880	14542880	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr18:14542880G>T	ENST00000358970.5	-	1	265	c.266C>A	c.(265-267)tCc>tAc	p.S89Y	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	89								p.S89Y(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTCATAAAGGAGTTGTCATG	0.607000													55	285					6.56871e-35	1.22859e-34	0.014410	1	0
DLG3	1741	broad.mit.edu	37	X	69670523	69670523	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:69670523A>T	ENST00000194900.4	+	7	1270	c.929A>T	c.(928-930)gAg>gTg	p.E310V	DLG3_ENST00000374360.3_Missense_Mutation_p.E292V			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	292	PDZ 2.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.E292V(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GTGAGGCACGAGGAAGCTGTG	0.557000													14	35					0	0	0.003163	0	0
IFNA6	3443	broad.mit.edu	37	9	21350396	21350396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr9:21350396C>A	ENST00000380210.1	-	1	981	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	164					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.W164F(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GACAACCTCCCAGGCACAAGG	0.453000													96	291					1.39607e-43	2.7116e-43	0.014410	1	0
HEATR1	55127	broad.mit.edu	37	1	236734657	236734657	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:236734657T>C	ENST00000366582.3	-	28	4056	c.3942A>G	c.(3940-3942)atA>atG	p.I1314M	HEATR1_ENST00000366581.2_Missense_Mutation_p.I1233M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1314					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.I1314M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTACCGGAAATATTCCAGCAA	0.398000													16	40					0	0	0.004990	0	0
PBRM1	55193	broad.mit.edu	37	3	52643704	52643704	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr3:52643704A>T	ENST00000356770.4	-	15	2098	c.2096T>A	c.(2095-2097)aTg>aAg	p.M699K	PBRM1_ENST00000394830.3_Missense_Mutation_p.M731K|PBRM1_ENST00000337303.4_Missense_Mutation_p.M731K|PBRM1_ENST00000409057.1_Missense_Mutation_p.M731K|PBRM1_ENST00000296302.7_Missense_Mutation_p.M731K|PBRM1_ENST00000409767.1_Missense_Mutation_p.M746K|PBRM1_ENST00000410007.1_Missense_Mutation_p.M731K|PBRM1_ENST00000409114.3_Missense_Mutation_p.M746K			Q86U86	PB1_HUMAN	polybromo 1	731	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.M731K(2)|p.M699K(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTATTAAACATCATGACAAA	0.408000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								6	89					0	0	0.001984	0	0
LONRF3	79836	broad.mit.edu	37	X	118109401	118109401	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:118109401C>T	ENST00000365713.2	+	1	821	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S	LONRF3_ENST00000304778.7_Missense_Mutation_p.P220S|LONRF3_ENST00000371628.3_Missense_Mutation_p.P220S			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	220					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.P220S(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCAGCAGCCGCCGCCGCCGCT	0.736000													7	12					0	0	0.003080	0	0
CYP2C9	1559	broad.mit.edu	37	10	96740969	96740969	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr10:96740969A>T	ENST00000260682.6	+	7	1003	c.991A>T	c.(991-993)Att>Ttt	p.I331F		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	331					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.I331F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TGAACGTGTGATTGGCAGAAA	0.478000													58	97					0	0	0.014410	0	0
MYH15	22989	broad.mit.edu	37	3	108117506	108117506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr3:108117506C>G	ENST00000273353.3	-	36	5227	c.5171G>C	c.(5170-5172)aGa>aCa	p.R1724T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1724						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1724T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAGATTGATTCTTTCTGTTGC	0.527000													79	84					0	0	0.014410	0	0
DDX54	79039	broad.mit.edu	37	12	113600946	113600946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:113600946C>T	ENST00000314045.7	-	16	2099	c.2072G>A	c.(2071-2073)aGc>aAc	p.S691N	DDX54_ENST00000306014.5_Missense_Mutation_p.S691N	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	691					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	p.S691N(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCCCGCTCGCTGTCAAAGTC	0.647000													4	22					0	0	0.001168	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007844	58007844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:58007844C>T	ENST00000286494.4	+	6	1058	c.598C>T	c.(598-600)Cga>Tga	p.R200*	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.R239*	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	200	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	p.R200*(1)|p.R239*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CGAGAGTCTTCGAGGCCGTGA	0.567000													11	101					0	0	0.010729	0	0
SNTG1	54212	broad.mit.edu	37	8	51664632	51664632	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:51664632T>A	ENST00000522124.1	+	18	2017	c.1356T>A	c.(1354-1356)ttT>ttA	p.F452L	SNTG1_ENST00000276467.5_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.F452L|SNTG1_ENST00000517473.1_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	452					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.F452L(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AAATCAAATTTTTGTTTCAGA	0.348000													47	123					0	0	0.014410	0	0
TUBB8	347688	broad.mit.edu	37	10	93939	93939	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr10:93939C>G	ENST00000447903.2	-	4	492	c.177G>C	c.(175-177)caG>caC	p.Q59H	TUBB8_ENST00000309812.4_Missense_Mutation_p.Q131H|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	131					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.Q131H(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCTGGAAACCCTGCAGGCAGT	0.582000													14	69					0	0	0.006122	0	0
NLRC4	58484	broad.mit.edu	37	2	32476218	32476218	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:32476218G>T	ENST00000404025.2	-	5	1203	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	NLRC4_ENST00000360906.5_Missense_Mutation_p.L239M|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.L239M			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	239	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.L239M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTCTGCCGCAGCTTCAGCAGC	0.502000													40	93					8.69298e-16	1.41611e-15	0.006999	1	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													4	65					0	0	0.009096	0	0
SMG9	56006	broad.mit.edu	37	19	44251904	44251904	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:44251904G>A	ENST00000601170.1	-	4	685	c.371C>T	c.(370-372)cCa>cTa	p.P124L	SMG9_ENST00000270066.6_Missense_Mutation_p.P124L			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	124	Pro-rich.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	p.P124L(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						AGGGGGTGGTGGGGCGGTGCC	0.682000													28	16					0	0	0.006320	0	0
MROH5	389690	broad.mit.edu	37	8	142505490	142505490	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:142505490G>T	ENST00000430863.1	-	0	436					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5									p.S119*(1)									CAGCTTGGGGGAGCCATGAGC	0.557000													29	71					2.08457e-15	3.3597e-15	0.010818	1	0
OR4M2	390538	broad.mit.edu	37	15	22369051	22369051	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr15:22369051A>G	ENST00000332663.2	+	1	574	c.476A>G	c.(475-477)cAg>cGg	p.Q159R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q159R(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTATCATACAGGTGGCTCTC	0.512000													70	517					0	0	0.014410	0	0
JARID2	3720	broad.mit.edu	37	6	15452366	15452366	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr6:15452366G>T	ENST00000341776.2	+	4	697	c.453G>T	c.(451-453)aaG>aaT	p.K151N	JARID2_ENST00000541660.1_Missense_Mutation_p.K113N|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	151					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.K151N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTAAAAGGAAGCCTAAGACAG	0.483000													37	85					1.04594e-18	1.76066e-18	0.006230	1	0
TTC40	54777	broad.mit.edu	37	10	134628239	134628239	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr10:134628239G>T	ENST00000368586.5	-	52	7300	c.7200C>A	c.(7198-7200)ccC>ccA	p.P2400P	TTC40_ENST00000263170.5_Silent_p.P561P	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	561								p.P2400P(1)|p.P561P(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGATGGTCCGGGGGATGCTGC	0.667000													16	34					1.5739e-10	2.19765e-10	0.004007	1	0
POLR3D	661	broad.mit.edu	37	8	22107690	22107690	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:22107690G>T	ENST00000397802.4	+	7	1239	c.1024G>T	c.(1024-1026)Ggc>Tgc	p.G342C	POLR3D_ENST00000306433.4_Missense_Mutation_p.G342C			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	342					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.G342C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACTCCTCTTGGGCAAGGTGAC	0.567000													13	40					3.27435e-08	4.33244e-08	0.002450	1	0
RPRD2	23248	broad.mit.edu	37	1	150337348	150337348	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:150337348A>G	ENST00000401000.4	+	1	223	c.158A>G	c.(157-159)aAa>aGa	p.K53R	RPRD2_ENST00000369068.4_Missense_Mutation_p.K53R|RPRD2_ENST00000369067.3_Missense_Mutation_p.K53R|RPRD2_ENST00000492220.1_Intron|RPRD2_ENST00000539519.1_Missense_Mutation_p.K53R			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	53	CID.						protein binding	p.K53R(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAGAACAAAAAACACCACAGT	0.498000													12	52					0	0	0.001855	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438235	85438235	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr15:85438235C>A	ENST00000394573.1	+	6	544	c.342C>A	c.(340-342)gtC>gtA	p.V114V	SLC28A1_ENST00000538177.1_Silent_p.V114V|SLC28A1_ENST00000537624.1_Silent_p.V114V|SLC28A1_ENST00000537703.1_Silent_p.V36V|SLC28A1_ENST00000537216.1_Silent_p.V114V|SLC28A1_ENST00000338602.2_Silent_p.V114V|SLC28A1_ENST00000286749.3_Silent_p.V114V	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	114					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.V114V(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTGTTTGTCCTCACCTGTG	0.637000													25	95					1.64293e-13	2.56603e-13	0.003330	1	0
POLR1A	25885	broad.mit.edu	37	2	86305001	86305001	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:86305001T>A	ENST00000263857.6	-	11	1739	c.1361A>T	c.(1360-1362)aAc>aTc	p.N454I	POLR1A_ENST00000409681.1_Missense_Mutation_p.N454I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	454					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.N454I(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCCAATTTCGTTGGTGTTGAT	0.542000													53	138					0	0	0.014410	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	49					0	0	0.004672	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1139804	1139804	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:1139804C>T	ENST00000379268.2	-	3	492	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	TNFRSF18_ENST00000328596.6_Missense_Mutation_p.E125K|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.E53K|TNFRSF18_ENST00000379265.5_Missense_Mutation_p.E125K	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	125					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	p.E125K(2)		lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGTGGCCTTCGTGGCCCCCG	0.647000													10	31					0	0	0.006214	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161652	90161652	+	RNA	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr16:90161652C>T	ENST00000564451.1	+	0	1005				TUBB8P7_ENST00000567960.1_RNA														p.L130L(1)									CTGTGACTGCCTGCAGGGTTT	0.597000													15	60					0	0	0.004007	0	0
OR8H1	219469	broad.mit.edu	37	11	56057871	56057871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:56057871G>T	ENST00000313022.2	-	1	695	c.668C>A	c.(667-669)aCc>aAc	p.T223N		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T223N(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTTCAGGATGGTAGAGAGAAT	0.398000													33	52					5.91797e-21	1.03054e-20	0.012213	1	0
MAST4	375449	broad.mit.edu	37	5	66460901	66460901	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:66460901G>T	ENST00000404260.3	+	29	6211	c.5903G>T	c.(5902-5904)aGg>aTg	p.R1968M	MAST4_ENST00000261569.7_Missense_Mutation_p.R1771M|MAST4_ENST00000403666.1_Missense_Mutation_p.R1776M|MAST4_ENST00000403625.2_Missense_Mutation_p.R1965M|MAST4_ENST00000405643.1_Missense_Mutation_p.R1786M			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1968						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R1968M(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCCCCTCAAGGGAGAAGCCA	0.647000													3	10					0.004672	0.00512904	0.004672	1	0
LILRA2	11027	broad.mit.edu	37	19	55086241	55086241	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:55086241G>A	ENST00000251377.3	+	5	529	c.396G>A	c.(394-396)gtG>gtA	p.V132V	LILRA2_ENST00000391737.1_Silent_p.V120V|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.V132V|LILRA2_ENST00000391738.3_Silent_p.V132V|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.V132V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCAGCCCTGTGGTGACCTTAG	0.562000													47	171					0	0	0.014410	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75932314	75932314	+	Splice_Site	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:75932314G>T	ENST00000262207.4	+	12	1712	c.1244_splice	c.e12+1	p.R415_splice	CRISPLD1_ENST00000517786.1_Splice_Site_p.R229_splice|CRISPLD1_ENST00000523524.1_Splice_Site_p.R227_splice	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	415	LCCL 2.					extracellular region		p.R415I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CATTGCCCAAGGTAAACCAGT	0.408000													12	37					2.61681e-11	3.77569e-11	0.002450	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414832	14414832	+	RNA	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr21:14414832A>T	ENST00000507941.1	+	0	95																											GGACTGCTCTACACTGGGCCT	0.433000													4	57					0	0	0.009096	0	0
ABCA12	26154	broad.mit.edu	37	2	215821447	215821447	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:215821447A>T	ENST00000272895.7	-	42	6392	c.6173T>A	c.(6172-6174)tTa>tAa	p.L2058*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.L1740*|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2058					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.L2058*(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAATGCAGGTAATTTGAAAAT	0.358000													22	84					0	0	0.003330	0	0
OR10A2	341276	broad.mit.edu	37	11	6891249	6891249	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:6891249G>A	ENST00000307322.4	+	1	326	c.264G>A	c.(262-264)atG>atA	p.M88I		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M88I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCACTCAGATGTATTTCTTCT	0.522000													46	123					0	0	0.014410	0	0
YIPF7	285525	broad.mit.edu	37	4	44638039	44638039	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:44638039C>A	ENST00000332990.5	-	3	268	c.252G>T	c.(250-252)tcG>tcT	p.S84S		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	84						endoplasmic reticulum membrane|integral to membrane		p.S84S(2)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CTGCGTAACCCGATGACATGA	0.413000													12	41					0.000151284	0.000179762	0.001855	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14784490	14784490	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr18:14784490C>G	ENST00000358984.4	+	14	1808	c.1628C>G	c.(1627-1629)cCa>cGa	p.P543R	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.P543R|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	543								p.P543R(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGACTGTTCCAAATAAAGCC	0.303000													12	34					0	0	0.013537	0	0
DENND4A	10260	broad.mit.edu	37	15	65989642	65989642	+	Silent	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr15:65989642T>C	ENST00000443035.3	-	21	3125	c.2910A>G	c.(2908-2910)caA>caG	p.Q970Q	DENND4A_ENST00000431932.2_Silent_p.Q927Q	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	927					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.Q970Q(1)|p.Q927Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTTTTCTTCTTGAATGTCTT	0.308000													48	96					0	0	0.014410	0	0
ZNF263	10127	broad.mit.edu	37	16	3334041	3334041	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr16:3334041C>T	ENST00000219069.5	+	1	1099	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000573578.1_Missense_Mutation_p.R75C|ZNF263_ENST00000574253.1_Missense_Mutation_p.R75C	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	75	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R75C(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GCCTGAGATGCGCACGAAGGA	0.622000													4	102					0	0	0.000602	0	0
LPAL2	80350	broad.mit.edu	37	6	160899576	160899576	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr6:160899576C>A	ENST00000335388.5	-	0	1308					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GGAACTGGAACAACAGTGGGA	0.453000													20	60					7.87624e-14	1.24297e-13	0.002780	1	0
DSG4	147409	broad.mit.edu	37	18	28986162	28986162	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr18:28986162T>A	ENST00000359747.4	+	12	1788	c.1759T>A	c.(1759-1761)Tgt>Agt	p.C587S	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.C587S|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	587					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.C587S(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTATATGCCTGTGATTGCGA	0.478000													25	64					0	0	0.003954	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201518	81201518	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr15:81201518G>A	ENST00000394685.3	+	14	2087	c.1668G>A	c.(1666-1668)ccG>ccA	p.P556P	RP11-351M8.2_ENST00000560873.1_RNA|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000220244.3_Silent_p.P556P|KIAA1199_ENST00000356249.5_Silent_p.P556P			Q8WUJ3	K1199_HUMAN	KIAA1199	556								p.P556P(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTCAGTACCCGATTCACTTCC	0.547000													13	63					0	0	0.002450	0	0
SPIN4	139886	broad.mit.edu	37	X	62570685	62570685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:62570685G>T	ENST00000335144.3	-	1	533	c.14C>A	c.(13-15)aCc>aAc	p.T5N	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_5'UTR	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	5					gamete generation			p.T5N(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						CGGAGGCACGGTTGGAGGAGA	0.512000													13	57					1.49906e-05	1.83893e-05	0.002450	1	0
FER1L6	654463	broad.mit.edu	37	8	125094556	125094556	+	Silent	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:125094556A>T	ENST00000522917.1	+	33	4454	c.4248A>T	c.(4246-4248)ccA>ccT	p.P1416P	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.P1416P	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1416	C2 5.					integral to membrane		p.P1416P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCACATTCCCAAAAGAGTCCC	0.478000													53	107					0	0	0.014410	0	0
KIF12	113220	broad.mit.edu	37	9	116859704	116859704	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr9:116859704G>A	ENST00000374118.3	-	4	346	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	170	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L37L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCCAGGCTCAGCAAGTCCCGA	0.627000													12	40					0	0	0.001855	0	0
CACNA1C	775	broad.mit.edu	37	12	2613703	2613703	+	Silent	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:2613703C>T	ENST00000399634.1	+	8	1215	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399603.1_Silent_p.S405S|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399617.1_Silent_p.S405S|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399641.1_Silent_p.S405S|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000406454.3_Silent_p.S405S|CACNA1C_ENST00000399644.1_Intron	NM_001167625.1	NP_001161097.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	405					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.S405S(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTGTGTTGAGCGGGTAAGCTG	0.532000													38	64					0	0	0.005524	0	0
KEAP1	9817	broad.mit.edu	37	19	10610246	10610246	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:10610246A>G	ENST00000171111.5	-	2	1011	c.464T>C	c.(463-465)gTc>gCc	p.V155A	KEAP1_ENST00000393623.2_Missense_Mutation_p.V155A	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.V155A(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ACCGTTCATGACGTGGAGGAC	0.587000													37	22					0	0	0.004289	0	0
PAK7	57144	broad.mit.edu	37	20	9546928	9546928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr20:9546928C>A	ENST00000378429.3	-	6	1640	c.1094G>T	c.(1093-1095)gGc>gTc	p.G365V	PAK7_ENST00000378423.1_Missense_Mutation_p.G365V|PAK7_ENST00000353224.5_Missense_Mutation_p.G365V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	365	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G365V(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGGAATAGCCCGATTTGCT	0.562000													45	145					2.81731e-22	4.99207e-22	0.014410	1	0
MAP3K4	4216	broad.mit.edu	37	6	161491814	161491814	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr6:161491814C>T	ENST00000392142.4	+	4	2030	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y	MAP3K4_ENST00000348824.7_Missense_Mutation_p.H628Y|MAP3K4_ENST00000366919.2_Missense_Mutation_p.H628Y|MAP3K4_ENST00000366920.2_Missense_Mutation_p.H628Y	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	628					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.H628Y(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAATGTCATACATGAGTGTCT	0.448000													10	23					0	0	0.008291	0	0
KCNC1	3746	broad.mit.edu	37	11	17757877	17757877	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:17757877C>A	ENST00000379472.3	+	1	358	c.328C>A	c.(328-330)Cgc>Agc	p.R110S	KCNC1_ENST00000265969.6_Missense_Mutation_p.R110S	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	110						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R110S(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GATGACGTACCGCCAGCACCG	0.716000													13	30					3.27435e-08	4.33244e-08	0.002450	1	0
FRAS1	80144	broad.mit.edu	37	4	79432632	79432632	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:79432632G>T	ENST00000264895.6	+	64	10425	c.9985G>T	c.(9985-9987)Gat>Tat	p.D3329Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3324					cell communication	integral to membrane|plasma membrane	metal ion binding	p.D3330Y(1)|p.D3329Y(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAAATACCTGGATGTCAAACA	0.512000													10	20					2.17888e-05	2.6408e-05	0.006214	1	0
SVEP1	79987	broad.mit.edu	37	9	113173762	113173762	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr9:113173762G>T	ENST00000401783.2	-	37	6565	c.6229C>A	c.(6229-6231)Cgt>Agt	p.R2077S	SVEP1_ENST00000374469.1_Missense_Mutation_p.R2054S|SVEP1_ENST00000297826.5_Missense_Mutation_p.R3S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2077	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.R2080S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTATACAACGGGGCATGTCT	0.478000													15	22					0.000308642	0.000356941	0.003163	1	0
BAGE2	85319	broad.mit.edu	37	21	11039321	11039321	+	RNA	SNP	A	A	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr21:11039321A>C	ENST00000470054.1	-	0	882									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTCACTTCCATTTTATCTTC	0.373000													12	353					0	0	0.004007	0	0
ARC	23237	broad.mit.edu	37	8	143695607	143695607	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:143695607C>A	ENST00000356613.2	-	1	1226	c.26G>T	c.(25-27)gGc>gTc	p.G9V		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	9					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		p.G9F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GTGGAGCCCGCCGCTGGTCCG	0.736000													7	14					0.00307968	0.00343067	0.003080	1	0
SYT17	51760	broad.mit.edu	37	16	19236108	19236108	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr16:19236108C>G	ENST00000562034.1	+	5	4791	c.993C>G	c.(991-993)ttC>ttG	p.F331L	SYT17_ENST00000568433.1_Missense_Mutation_p.F86L|SYT17_ENST00000562711.2_Missense_Mutation_p.F388L|SYT17_ENST00000355377.2_Missense_Mutation_p.F392L|SYT17_ENST00000568115.1_Missense_Mutation_p.F331L			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	392	C2 2.					membrane|synaptic vesicle	transporter activity	p.F392L(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ATGAATCCTTCAGCTTCAAAG	0.448000													39	93					0	0	0.014410	0	0
BAGE2	85319	broad.mit.edu	37	21	11039319	11039319	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr21:11039319C>A	ENST00000470054.1	-	0	884									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTGTCACTTCCATTTTATCT	0.373000													14	354					2.35188e-11	3.40967e-11	0.006122	1	0
TOX3	27324	broad.mit.edu	37	16	52502441	52502441	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr16:52502441C>A	ENST00000219746.9	-	2	417	c.133G>T	c.(133-135)Gcg>Tcg	p.A45S	TOX3_ENST00000407228.3_Missense_Mutation_p.A41S	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	45					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.A45S(1)|p.A41S(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GCGAAGAACGCATTGTTCGCC	0.353000													37	83					4.90274e-10	6.72186e-10	0.006230	1	0
SNRPA	6626	broad.mit.edu	37	19	41263354	41263354	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:41263354G>T	ENST00000243563.3	+	2	741	c.191G>T	c.(190-192)aGc>aTc	p.S64I	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	64	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.S64I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGGTCAGCAGCGCCACCAAC	0.542000													41	46					6.1207e-33	1.12398e-32	0.013114	1	0
KIF4A	24137	broad.mit.edu	37	X	69550032	69550032	+	Silent	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:69550032T>A	ENST00000374403.3	+	9	1003	c.921T>A	c.(919-921)acT>acA	p.T307T	KIF4A_ENST00000374388.3_Silent_p.T307T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	307	Kinesin-motor.				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	p.T307T(1)		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						ATAGCCATACTCTTATGATAG	0.378000													62	156					0	0	0.014410	0	0
CAD	790	broad.mit.edu	37	2	27459689	27459689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:27459689C>T	ENST00000264705.4	+	27	4549	c.4387C>T	c.(4387-4389)Cga>Tga	p.R1463*	CAD_ENST00000403525.1_Nonsense_Mutation_p.R1400*	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1463	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.R1463*(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAAGCTTGTGCGACTGCCGGG	0.572000													4	111					0	0	0.001168	0	0
FBXL7	23194	broad.mit.edu	37	5	15928306	15928306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:15928306C>A	ENST00000504595.1	+	3	916	c.435C>A	c.(433-435)taC>taA	p.Y145*	FBXL7_ENST00000329673.7_Nonsense_Mutation_p.Y133*|FBXL7_ENST00000510662.1_Nonsense_Mutation_p.Y98*	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	145	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.Y145*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCCGCTGGTACAACCTGGCCT	0.672000													5	11					0.00116845	0.00133097	0.001168	1	0
OR4C3	256144	broad.mit.edu	37	11	48347481	48347481	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:48347481A>T	ENST00000319856.4	+	1	1010	c.989A>T	c.(988-990)tAa>tTa	p.*330L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*330L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTACATGGTAAGAAATTGCA	0.323000													4	34					0	0	0.001168	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885566	24885566	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr14:24885566G>A	ENST00000382554.3	+	9	4929	c.4611G>A	c.(4609-4611)ccG>ccA	p.P1537P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1537					DNA integration	integral to membrane	DNA binding	p.P1537P(1)|p.P66P(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGTAGTCCCGACGCAACTCC	0.547000													8	17					0	0	0.003080	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736276	140736276	+	Silent	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:140736276C>G	ENST00000571252.1	+	1	1509	c.1509C>G	c.(1507-1509)tcC>tcG	p.S503S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTCCTCCTATGTCTCCA	0.507000													56	128					0	0	0.014410	0	0
FAM71B	153745	broad.mit.edu	37	5	156592744	156592744	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:156592744T>C	ENST00000302938.4	-	1	531	c.436A>G	c.(436-438)Act>Gct	p.T146A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	146						nucleus		p.T146A(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTACGGCCAGTGGCGAGTTTC	0.493000													37	74					0	0	0.003755	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144364	35144364	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:35144364G>T	ENST00000436258.1	-	0	1702																											ACTGCAATGTGTGAAAAGCCA	0.303000													12	22					5.16669e-11	7.34979e-11	0.010729	1	0
KDR	3791	broad.mit.edu	37	4	55981449	55981449	+	Splice_Site	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:55981449G>T	ENST00000263923.4	-	4	783	c.489_splice	c.e4+1	p.A163_splice		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	163	Ig-like C2-type 2.				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	p.A163E(1)		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)	GCAACTTACTGCACAAAGTGA	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			11	27					6.40141e-05	7.63633e-05	0.010729	1	0
HTATSF1	27336	broad.mit.edu	37	X	135585093	135585093	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:135585093C>G	ENST00000535601.1	+	6	1149	c.727C>G	c.(727-729)Caa>Gaa	p.Q243E	HTATSF1_ENST00000218364.4_Missense_Mutation_p.Q243E	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	243					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.Q243E(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GCTGTCTATGCAACAAAAGTT	0.338000													25	67					0	0	0.004656	0	0
RHBDF2	79651	broad.mit.edu	37	17	74473847	74473847	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr17:74473847G>A	ENST00000591885.1	-	7	1243	c.693C>T	c.(691-693)gcC>gcT	p.A231A	RHBDF2_ENST00000389760.4_Silent_p.A231A|RHBDF2_ENST00000313080.4_Silent_p.A260A			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	260					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.A260A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCTGTCCGGTGGCATCCAGCA	0.642000													22	44					0	0	0.012319	0	0
ASTN1	460	broad.mit.edu	37	1	176863861	176863861	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:176863861G>A	ENST00000367654.2	-	17	2814	c.2801C>T	c.(2800-2802)gCg>gTg	p.A934V	ASTN1_ENST00000424564.2_Missense_Mutation_p.A926V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A926V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A926V			O14525	ASTN1_HUMAN	astrotactin 1	934					cell migration|neuron cell-cell adhesion	integral to membrane		p.A926V(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACTCCAGCCGCCATGTGCTT	0.602000													25	83					0	0	0.008740	0	0
POP1	10940	broad.mit.edu	37	8	99142345	99142345	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:99142345C>T	ENST00000401707.2	+	5	707	c.626C>T	c.(625-627)gCc>gTc	p.A209V	POP1_ENST00000349693.3_Missense_Mutation_p.A209V	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	209					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	p.A209V(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATCTGGCACGCCAAGCGGTTT	0.488000													17	53					0	0	0.007413	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253450	32253450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr21:32253450G>T	ENST00000332378.4	-	1	424	c.394C>A	c.(394-396)Caa>Aaa	p.Q132K		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	132	4 X 10 AA approximate repeats.					keratin filament	structural molecule activity	p.Q132K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CCCACTGGTTGGCAGACAGTA	0.597000													12	75					3.07112e-06	3.84524e-06	0.010729	1	0
TMTC4	84899	broad.mit.edu	37	13	101308647	101308647	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr13:101308647C>A	ENST00000342624.5	-	6	886	c.628G>T	c.(628-630)Gca>Tca	p.A210S	TMTC4_ENST00000376234.3_Missense_Mutation_p.A191S|TMTC4_ENST00000328767.5_Missense_Mutation_p.A80S	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	191						integral to membrane	binding	p.A210S(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTCTAAATGCTTTACAGTAG	0.418000													20	29					1.28384e-07	1.64136e-07	0.012319	1	0
PCDHB17P	54661	broad.mit.edu	37	5	140537229	140537229	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:140537229G>T	ENST00000539533.1	+	1	1653	c.1653G>T	c.(1651-1653)ctG>ctT	p.L551L															p.L551L(2)									TGCGCGTGCTGGTGTGCTGGA	0.711000													35	47					2.09667e-21	3.67219e-21	0.003755	1	0
FAM65B	9750	broad.mit.edu	37	6	24848310	24848310	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr6:24848310C>T	ENST00000259698.4	-	12	1195	c.1020G>A	c.(1018-1020)atG>atA	p.M340I	FAM65B_ENST00000378023.4_Missense_Mutation_p.M340I|FAM65B_ENST00000540914.1_Missense_Mutation_p.M340I|FAM65B_ENST00000510784.2_Missense_Mutation_p.M374I|FAM65B_ENST00000538035.1_Missense_Mutation_p.M369I	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	340					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.M340I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGTACATGGACATTCTCCTCT	0.527000													16	47					0	0	0.003163	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475340	140475340	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:140475340G>T	ENST00000194155.4	+	1	1114	c.966G>T	c.(964-966)caG>caT	p.Q322H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		322	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q322H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATATTCAGGCGACAGATG	0.418000													33	67					4.74835e-14	7.57238e-14	0.010818	1	0
TATDN3	128387	broad.mit.edu	37	1	212976082	212976082	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:212976082G>A	ENST00000366974.4	+	5	392	c.298G>A	c.(298-300)Gat>Aat	p.D100N	TATDN3_ENST00000526641.1_Intron|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000530441.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.D100N|TATDN3_ENST00000531963.1_Missense_Mutation_p.D100N|TATDN3_ENST00000526997.1_Missense_Mutation_p.D100N|TATDN3_ENST00000366973.4_Missense_Mutation_p.D100N	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	100						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.D100N(1)		endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		GAATTATAAGGATCGGTTGTT	0.343000													4	54					0	0	0.009096	0	0
MNDA	4332	broad.mit.edu	37	1	158813853	158813853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:158813853G>T	ENST00000368141.4	+	4	772	c.511G>T	c.(511-513)Gat>Tat	p.D171Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	171					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.D171Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TGCAGCTGTGGATCATCCCCC	0.493000													39	166					7.53189e-24	1.34245e-23	0.007835	1	0
IL12RB2	3595	broad.mit.edu	37	1	67795397	67795397	+	Silent	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:67795397C>T	ENST00000262345.1	+	6	1432	c.792C>T	c.(790-792)agC>agT	p.S264S	IL12RB2_ENST00000544434.1_Silent_p.S264S|IL12RB2_ENST00000371000.1_Silent_p.S264S|IL12RB2_ENST00000541374.1_Silent_p.S264S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	264	Fibronectin type-III 2.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.S264S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCAGTAACAGCAGGCTCTGGA	0.403000													15	41					0	0	0.004990	0	0
MROH5	389690	broad.mit.edu	37	8	142505489	142505489	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:142505489G>T	ENST00000430863.1	-	0	437					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5									p.S119*(1)									CCAGCTTGGGGGAGCCATGAG	0.562000													28	71					1.08312e-15	1.755e-15	0.009535	1	0
S100A7	6278	broad.mit.edu	37	1	153430323	153430323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:153430323G>A	ENST00000368723.3	-	3	375	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	S100A7_ENST00000368722.1_Nonsense_Mutation_p.Q89*	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	89					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	p.Q89*(1)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCATGGCTCTGCTTGTGGTAG	0.527000													12	116					0	0	0.002450	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126801	73126801	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr16:73126801C>A	ENST00000569990.2	+	0	554					NR_027756.1																						CCCACGCGCTCCTGTTTTCCC	0.527000													30	41					1.75199e-13	2.72232e-13	0.007291	1	0
LIN7A	8825	broad.mit.edu	37	12	81239642	81239642	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:81239642C>A	ENST00000552864.1	-	4	552	c.350G>T	c.(349-351)gGc>gTc	p.G117V		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	117	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	p.G117V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AAAACCAAGGCCTTCATCAGT	0.458000													18	64					3.52763e-06	4.39865e-06	0.004990	1	0
MSH2	4436	broad.mit.edu	37	2	47630474	47630474	+	Silent	SNP	G	G	A	rs63750334		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:47630474G>A	ENST00000406134.1	+	1	206	c.144G>A	c.(142-144)gaG>gaA	p.E48E	MSH2_ENST00000233146.2_Silent_p.E48E|MSH2_ENST00000543555.1_Intron			P43246	MSH2_HUMAN	mutS homolog 2	48					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.E48E(1)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGCACGGCGAGGACGCGCTGC	0.687000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	25					0	0	0.006214	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012884	73012884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:73012884C>A	ENST00000308744.6	+	4	1022	c.924C>A	c.(922-924)tgC>tgA	p.C308*	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.C209*|NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.C206*|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	308					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.C308*(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCTACTGGTGCCGGGAAGACT	0.458000													20	64					8.00594e-06	9.86097e-06	0.007413	1	0
WHSC1	7468	broad.mit.edu	37	4	1952804	1952804	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:1952804G>T	ENST00000382895.3	+	12	2318	c.1887G>T	c.(1885-1887)tcG>tcT	p.S629S	WHSC1_ENST00000508803.1_Silent_p.S629S|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Silent_p.S629S|WHSC1_ENST00000382892.2_Silent_p.S629S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	629					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S629S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCTAGGTCTCGGACAGCCCGG	0.587000			T	IGH@	MM								17	53					1.15088e-07	1.47761e-07	0.004007	1	0
UBQLN2	29978	broad.mit.edu	37	X	56591819	56591819	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:56591819G>T	ENST00000338222.5	+	1	1794	c.1513G>T	c.(1513-1515)Gtc>Ttc	p.V505F		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	505	12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding	p.V505F(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGGCCCTATAGTCCCTTTTAC	0.662000													3	4					0.00909568	0.0098781	0.009096	1	0
POMK	84197	broad.mit.edu	37	8	42977285	42977285	+	Silent	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:42977285A>G	ENST00000331373.5	+	5	573	c.318A>G	c.(316-318)gcA>gcG	p.A106A		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		106	Protein kinase.					integral to membrane	ATP binding|protein kinase activity	p.A106A(2)									ACAAAGTTGCACTCTCACAGC	0.483000													51	94					0	0	0.014410	0	0
TM4SF5	9032	broad.mit.edu	37	17	4675237	4675237	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr17:4675237C>T	ENST00000270560.3	+	1	51	c.20C>T	c.(19-21)gCc>gTc	p.A7V		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	7						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GGAAAATGTGCCCGCTGTGTG	0.582000													4	197					0	0	0.000602	0	0
EPHB2	2048	broad.mit.edu	37	1	23111087	23111087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:23111087C>A	ENST00000400191.3	+	3	347	c.329C>A	c.(328-330)aCc>aAc	p.T110N	EPHB2_ENST00000374627.1_Missense_Mutation_p.T104N|EPHB2_ENST00000544305.1_Missense_Mutation_p.T110N|EPHB2_ENST00000374632.3_Missense_Mutation_p.T110N|EPHB2_ENST00000374630.3_Missense_Mutation_p.T110N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	110					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.T110N(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGCAAGGAGACCTTCAACCTC	0.572000													12	21					1.08611e-07	1.41241e-07	0.010729	1	0
ZNF107	51427	broad.mit.edu	37	7	64167704	64167704	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:64167704C>T	ENST00000395391.1	+	4	2397	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	ZNF107_ENST00000423627.1_Missense_Mutation_p.S341L|ZNF107_ENST00000344930.3_Missense_Mutation_p.S341L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S341L(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AACCAGTTCTCAACTCTTACT	0.343000													17	24					0	0	0.004990	0	0
SRPK3	26576	broad.mit.edu	37	X	153048494	153048494	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:153048494G>A	ENST00000489426.1	+	13	3236	c.870G>A	c.(868-870)ggG>ggA	p.G290G	SRPK3_ENST00000370104.1_Silent_p.G223G|SRPK3_ENST00000370100.1_Silent_p.G181G|SRPK3_ENST00000393786.3_Silent_p.G223G|SRPK3_ENST00000370101.3_Silent_p.G223G|SRPK3_ENST00000370108.3_Silent_p.G223G			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	223	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	p.G223G(1)|p.G290G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGTGTGGGGGACGCTTACA	0.647000													15	45					0	0	0.010504	0	0
RERGL	79785	broad.mit.edu	37	12	18237478	18237478	+	Missense_Mutation	SNP	C	C	T	rs61757396	byFrequency	TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:18237478C>T	ENST00000229002.2	-	5	514	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.R102Q	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	103	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.R103Q(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGTGGCTCCCGGATTCTGTA	0.383000													12	95					0	0	0.001855	0	0
SLC6A8	6535	broad.mit.edu	37	X	152958581	152958581	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:152958581G>T	ENST00000253122.5	+	5	1339	c.863G>T	c.(862-864)gGc>gTc	p.G288V	SLC6A8_ENST00000430077.2_Missense_Mutation_p.G173V|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	288					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G288V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCCCTGGATGGCATCATTTAC	0.632000													9	18					0.00448238	0.00497495	0.004482	1	0
LRRC4B	94030	broad.mit.edu	37	19	51021872	51021872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr19:51021872G>C	ENST00000599957.1	-	3	1295	c.1098C>G	c.(1096-1098)atC>atG	p.I366M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.I366M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	366	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane		p.I366M(1)|p.I366I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCGGCTCCACGATGACGGGCG	0.667000													7	30					0	0	0.003080	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	11					0	0	0.010729	0	0
BCL9L	283149	broad.mit.edu	37	11	118772195	118772195	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:118772195T>A	ENST00000334801.3	-	6	3221	c.2257A>T	c.(2257-2259)Atg>Ttg	p.M753L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	753	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.M753L(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GACTGCCCCATGGGAGGGCTC	0.612000													22	48					0	0	0.002780	0	0
U66061.31	0	broad.mit.edu	37	7	142423708	142423708	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:142423708C>A	ENST00000506718.1	+	0	716																											GCACAGCCAGCTGCTCTCTGC	0.537000													8	29					0.000157383	0.000184834	0.003080	1	0
MYO5B	4645	broad.mit.edu	37	18	47566513	47566513	+	Splice_Site	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr18:47566513C>A	ENST00000285039.7	-	3	609	c.310_splice	c.e3+1	p.G104_splice		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	104	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G104C(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCCCACTTACCACAGTAAGTG	0.458000													55	95					1.54043e-34	2.8635e-34	0.014410	1	0
HDC	3067	broad.mit.edu	37	15	50546389	50546389	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr15:50546389G>T	ENST00000267845.3	-	6	1060	c.658C>A	c.(658-660)Cga>Aga	p.R220R	HDC_ENST00000543581.1_Silent_p.R220R	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	220					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R220R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCTTCCCCTCGGAGTGAGAAG	0.488000													26	56					1.55469e-16	2.58831e-16	0.003330	1	0
PALLD	23022	broad.mit.edu	37	4	169611777	169611777	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:169611777G>A	ENST00000335742.7	+	7	1570	c.213G>A	c.(211-213)gcG>gcA	p.A71A	PALLD_ENST00000512127.1_Silent_p.A71A|PALLD_ENST00000505667.1_Silent_p.A453A|PALLD_ENST00000333488.4_Silent_p.A330A|PALLD_ENST00000261509.6_Silent_p.A453A			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	453					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.A453A(1)|p.A71A(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCCGTGGCGGAAGGCCAGG	0.502000									Pancreatic Cancer, Familial Clustering of				56	146					0	0	0.014410	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332646	22332646	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr15:22332646C>A	ENST00000558896.1	+	0	453																											TGTTACTCTGCCAAAGATGTT	0.458000													24	197					4.72057e-08	6.19192e-08	0.003954	1	0
SLURP1	57152	broad.mit.edu	37	8	143822670	143822670	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:143822670A>G	ENST00000246515.1	-	3	228	c.203T>C	c.(202-204)gTg>gCg	p.V68A		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	68	UPAR/Ly6.				cell activation|cell adhesion	extracellular space	cytokine activity	p.V68A(1)		breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCGGGTCACCACGGGGCTCTG	0.672000													11	15					0	0	0.010729	0	0
ZNF716	441234	broad.mit.edu	37	7	57528793	57528793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:57528793G>T	ENST00000420713.1	+	4	738	c.626G>T	c.(625-627)aGg>aTg	p.R209M		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.R209M(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATTCATACTAGGGAGAAGTCT	0.353000													4	17					0.00024832	0.000289388	0.009096	1	0
XIRP2	129446	broad.mit.edu	37	2	168107287	168107287	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:168107287A>C	ENST00000409195.1	+	9	9474	c.9385A>C	c.(9385-9387)Act>Cct	p.T3129P	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2907P|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3129P|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2954					actin cytoskeleton organization	cell junction	actin binding	p.T3129P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATAGAATCTACTGCCCGACG	0.443000													26	58					0	0	0.005443	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95657604	95657604	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:95657604C>G	ENST00000324972.6	+	11	1331	c.1138C>G	c.(1138-1140)Cgg>Ggg	p.R380G	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R343G|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R363G|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R343G|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R363G|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R360G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	380					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.R380G(1)|p.R380W(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCCAGTGCAGCGGACACCCTT	0.517000													45	82					0	0	0.013114	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709705	38709705	+	RNA	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:38709705C>A	ENST00000417039.1	-	0	696																											GCATCAGTACCCCATTCTATC	0.502000													29	44					5.60225e-13	8.57314e-13	0.009535	1	0
SYT12	91683	broad.mit.edu	37	11	66807645	66807645	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:66807645C>T	ENST00000393946.2	+	7	1754	c.592C>T	c.(592-594)Ccg>Tcg	p.P198S	SYT12_ENST00000527043.1_Missense_Mutation_p.P198S|SYT12_ENST00000525457.1_Missense_Mutation_p.P198S|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	198	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane		p.P198S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CAGCCTGCTGCCGGACGAGCA	0.662000													3	44					0	0	0.009096	0	0
DMD	1756	broad.mit.edu	37	X	31645941	31645941	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:31645941C>G	ENST00000357033.4	-	55	8272	c.8066G>C	c.(8065-8067)aGa>aCa	p.R2689T	DMD_ENST00000378707.3_Missense_Mutation_p.R229T|DMD_ENST00000343523.2_Missense_Mutation_p.R229T|DMD_ENST00000474231.1_Missense_Mutation_p.R229T|DMD_ENST00000378677.2_Missense_Mutation_p.R2685T|DMD_ENST00000541735.1_Missense_Mutation_p.R229T|DMD_ENST00000359836.1_Missense_Mutation_p.R229T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2689					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R1348T(1)|p.R2684T(1)|p.R2685T(1)|p.R229T(1)|p.R2689T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCAGTAATCTATGAGTTTC	0.453000													6	24					0	0	0.001984	0	0
EPHB6	2051	broad.mit.edu	37	7	142562228	142562228	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:142562228G>A	ENST00000392957.2	+	7	1457	c.670G>A	c.(670-672)Gct>Act	p.A224T	EPHB6_ENST00000442129.1_Missense_Mutation_p.A224T|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	224	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.A209T(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCCCTGGTCGCTGTCAGGCT	0.652000													6	142					0	0	0.001984	0	0
DCTN4	51164	broad.mit.edu	37	5	150121678	150121678	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:150121678G>T	ENST00000447998.2	-	4	542	c.427C>A	c.(427-429)Cgg>Agg	p.R143R	DCTN4_ENST00000521093.1_Intron|DCTN4_ENST00000446090.2_Silent_p.R143R|DCTN4_ENST00000424236.1_Silent_p.R86R	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	143						centrosome|nucleus	protein N-terminus binding	p.R143R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACTTACCCGTTGTGTGTGA	0.338000													107	207					2.38168e-41	4.5674e-41	0.014410	1	0
POU6F2	11281	broad.mit.edu	37	7	39379533	39379533	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:39379533G>A	ENST00000518318.2	+	5	846	c.804G>A	c.(802-804)caG>caA	p.Q268Q	POU6F2_ENST00000559001.1_Silent_p.Q260Q|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Silent_p.Q268Q			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	268	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q268Q(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						caacccagcagagctccagcc	0.622000													14	35					0	0	0.002450	0	0
NPM3	10360	broad.mit.edu	37	10	103542607	103542607	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr10:103542607C>A	ENST00000370110.5	-	2	215	c.193G>T	c.(193-195)Gca>Tca	p.A65S	NPM3_ENST00000474993.1_Intron	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	65							nucleic acid binding	p.A65S(1)		large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ATGGTTAGTGCCAGCACGTGC	0.542000													15	32					1.15088e-07	1.47761e-07	0.004007	1	0
MXRA5	25878	broad.mit.edu	37	X	3248300	3248300	+	Silent	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:3248300G>T	ENST00000217939.6	-	4	622	c.468C>A	c.(466-468)ctC>ctA	p.L156L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	156						extracellular region		p.L156L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCCAAATGGAGTAGCCTCA	0.478000													17	38					4.14922e-12	6.07349e-12	0.004007	1	0
MARCH4	57574	broad.mit.edu	37	2	217142428	217142428	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:217142428C>A	ENST00000273067.4	-	3	2598	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	278						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.G278W(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCATACATCCCGTAGCAGATC	0.557000													39	105					2.66277e-13	4.11642e-13	0.006999	1	0
DUS2	54920	broad.mit.edu	37	16	68109324	68109324	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr16:68109324G>T	ENST00000565263.1	+	14	1493	c.999G>T	c.(997-999)agG>agT	p.R333S	DUS2L_ENST00000432752.1_Missense_Mutation_p.R298S|DUS2L_ENST00000358896.6_Missense_Mutation_p.R333S	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		333					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	p.R333S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		AGCAGGCCAGGCTCTCAGCCA	0.547000													10	28					2.17888e-05	2.6408e-05	0.006214	1	0
KIF4A	24137	broad.mit.edu	37	X	69637839	69637839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:69637839C>A	ENST00000374403.3	+	29	3439	c.3357C>A	c.(3355-3357)aaC>aaA	p.N1119K		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1119	Globular.|Interaction with PRC1.				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	p.N1119K(1)		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						AGTGTCGGAACCGCCAGCAAG	0.542000													22	61					1.55795e-14	2.49766e-14	0.012319	1	0
IFNA6	3443	broad.mit.edu	37	9	21350395	21350395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr9:21350395C>A	ENST00000380210.1	-	1	982	c.492G>T	c.(490-492)tgG>tgT	p.W164C		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	164					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.W164F(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGACAACCTCCCAGGCACAAG	0.453000													95	292					4.98208e-43	9.61509e-43	0.014410	1	0
RGS22	26166	broad.mit.edu	37	8	101065202	101065202	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:101065202G>A	ENST00000360863.6	-	10	1711	c.1517C>T	c.(1516-1518)gCa>gTa	p.A506V	RGS22_ENST00000523437.1_Missense_Mutation_p.A494V|RGS22_ENST00000523287.1_Missense_Mutation_p.A325V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	506					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.A506V(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAATCTTGGTGCCCTGTTTAT	0.368000													7	160					0	0	0.001984	0	0
NRAP	4892	broad.mit.edu	37	10	115356917	115356917	+	Silent	SNP	A	A	G			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr10:115356917A>G	ENST00000369358.4	-	37	4627	c.4383T>C	c.(4381-4383)agT>agC	p.S1461S	NRAP_ENST00000359988.3_Silent_p.S1453S|NRAP_ENST00000360478.3_Silent_p.S1418S|NRAP_ENST00000369360.3_Silent_p.S1426S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1453						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.S1453S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGAACTTGATACTGTCTGGTT	0.453000													44	125					0	0	0.013114	0	0
RXFP1	59350	broad.mit.edu	37	4	159573154	159573154	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:159573154C>A	ENST00000307765.5	+	18	2472	c.2221C>A	c.(2221-2223)Ccc>Acc	p.P741T	RXFP1_ENST00000343542.5_Missense_Mutation_p.P693T|RXFP1_ENST00000460056.2_Missense_Mutation_p.P660T|RXFP1_ENST00000470033.1_Missense_Mutation_p.P708T|RXFP1_ENST00000448688.2_Missense_Mutation_p.P636T	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	741						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.P741T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTTCACATACCCCTGTGAAAT	0.443000													15	55					1.3612e-06	1.71139e-06	0.003163	1	0
CECR1	51816	broad.mit.edu	37	22	17688152	17688152	+	Silent	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr22:17688152G>A	ENST00000399839.1	-	3	621	c.351C>T	c.(349-351)ggC>ggT	p.G117G	CECR1_ENST00000449907.2_Silent_p.G75G|CECR1_ENST00000399837.2_Silent_p.G117G|CECR1_ENST00000262607.3_Silent_p.G117G			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	117					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	p.G117G(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TAGTCACGATGCCAATGTCAT	0.552000													5	79					0	0	0.000602	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389175	1389175	+	Silent	SNP	C	C	T	rs71299249		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:1389175C>T	ENST00000324803.4	+	1	3836	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	292					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.L292L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCC	0.687000													100	232					0	0	0.014410	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36103274	36103274	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:36103274T>A	ENST00000315571.5	+	3	286	c.265T>A	c.(265-267)Ttc>Atc	p.F89I	LDLRAD3_ENST00000524419.1_Missense_Mutation_p.F40I|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.F40I	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	89	LDL-receptor class A 2.					integral to membrane	receptor activity	p.F89I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CATTGGTCGCTTCCGGTGCAA	0.527000													37	76					0	0	0.004878	0	0
UBASH3B	84959	broad.mit.edu	37	11	122666894	122666894	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:122666894C>A	ENST00000284273.5	+	8	1519	c.1144C>A	c.(1144-1146)Cag>Aag	p.Q382K		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	382	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity	p.Q382K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GCCCGGCCCCCAGAAGCGATG	0.542000											OREG0021442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	83					3.73988e-18	6.26069e-18	0.006320	1	0
DDX60	55601	broad.mit.edu	37	4	169190053	169190053	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr4:169190053G>A	ENST00000393743.3	-	20	3029	c.2738C>T	c.(2737-2739)cCc>cTc	p.P913L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	913	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.P913L(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGCCAAAAAGGGACATCGGAT	0.358000													29	81					0	0	0.003755	0	0
FAM47C	442444	broad.mit.edu	37	X	37029325	37029325	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:37029325G>T	ENST00000358047.3	+	1	2894	c.2842G>T	c.(2842-2844)Ggg>Tgg	p.G948W		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	948								p.G948W(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCTAAGTTGGGGAAAAAGCT	0.458000													60	118					4.83677e-39	9.21725e-39	0.014410	1	0
UGT3A1	133688	broad.mit.edu	37	5	35957471	35957471	+	Silent	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:35957471C>A	ENST00000274278.3	-	5	1251	c.894G>T	c.(892-894)gtG>gtT	p.V298V	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.V298V|UGT3A1_ENST00000507113.1_Silent_p.V264V	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	298						integral to membrane	glucuronosyltransferase activity	p.V298V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCAAAGGCCACAAGGACAA	0.488000													16	40					6.94344e-10	9.47686e-10	0.006122	1	0
TMEM171	134285	broad.mit.edu	37	5	72419665	72419665	+	Silent	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:72419665C>T	ENST00000454765.2	+	2	938	c.465C>T	c.(463-465)ccC>ccT	p.P155P	TMEM171_ENST00000287773.5_Silent_p.P155P			Q8WVE6	TM171_HUMAN	transmembrane protein 171	155						integral to membrane		p.P155P(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ACTCAGAGCCCCGGATGTGTG	0.562000													46	119					0	0	0.014410	0	0
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716000													5	30					0	0	0.001984	0	0
MYOM2	9172	broad.mit.edu	37	8	2021510	2021510	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr8:2021510G>T	ENST00000262113.4	+	10	1191	c.1050G>T	c.(1048-1050)gaG>gaT	p.E350D	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	350	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle	p.E350D(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGGACGACGAGGGCCTGTACA	0.602000													19	61					3.32936e-07	4.23864e-07	0.006122	1	0
OR2C3	81472	broad.mit.edu	37	1	247695038	247695038	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:247695038A>T	ENST00000366487.3	-	2	1137	c.776T>A	c.(775-777)aTg>aAg	p.M259K	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M258K(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTGGAGATACATGAAGATGAT	0.517000													28	99					0	0	0.004656	0	0
SYT1	6857	broad.mit.edu	37	12	79679569	79679569	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:79679569C>A	ENST00000261205.4	+	5	826	c.169C>A	c.(169-171)Cca>Aca	p.P57T	SYT1_ENST00000393240.3_Missense_Mutation_p.P57T|SYT1_ENST00000552744.1_Missense_Mutation_p.P57T|SYT1_ENST00000457153.2_Missense_Mutation_p.P57T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	57					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P57T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TCTTTCAGTGCCACCGTGGGC	0.373000													22	67					2.89027e-11	4.15048e-11	0.014323	1	0
DTNA	1837	broad.mit.edu	37	18	32400802	32400802	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr18:32400802C>A	ENST00000283365.9	+	10	1275	c.924C>A	c.(922-924)agC>agA	p.S308R	DTNA_ENST00000399113.3_Missense_Mutation_p.S308R|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000598774.1_Missense_Mutation_p.S308R|DTNA_ENST00000598334.1_Missense_Mutation_p.S308R|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000599844.1_5'UTR|DTNA_ENST00000269192.7_5'UTR|DTNA_ENST00000348997.5_Missense_Mutation_p.S308R|DTNA_ENST00000399121.5_Missense_Mutation_p.S308R|DTNA_ENST00000444659.1_Missense_Mutation_p.S308R|DTNA_ENST00000598142.1_Missense_Mutation_p.S308R|DTNA_ENST00000269191.6_Missense_Mutation_p.S308R|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000597674.1_5'UTR|DTNA_ENST00000595022.1_Missense_Mutation_p.S308R|DTNA_ENST00000269190.7_Missense_Mutation_p.S308R|DTNA_ENST00000315456.6_Missense_Mutation_p.S308R|DTNA_ENST00000597599.1_Missense_Mutation_p.S308R|DTNA_ENST00000591182.1_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.S308R|DTNA_ENST00000556414.3_5'UTR	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	308					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.S308R(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTCCCTGAGCTGTGCTTCCA	0.468000													26	56					3.6726e-16	6.04782e-16	0.003954	1	0
GPATCH8	23131	broad.mit.edu	37	17	42483385	42483385	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr17:42483385C>T	ENST00000434000.1	-	8	575	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R176Q			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	176						intracellular	nucleic acid binding|zinc ion binding	p.R176Q(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGAGACATTTCGAGCAAACTC	0.423000													4	112					0	0	0.009096	0	0
PTPN4	5775	broad.mit.edu	37	2	120714600	120714600	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:120714600A>T	ENST00000263708.2	+	22	2851	c.2080A>T	c.(2080-2082)Aca>Tca	p.T694S	PTPN4_ENST00000544261.1_Missense_Mutation_p.T327S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	694	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.T694S(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGATGATGCCACACGGGTCAT	0.274000													16	32					0	0	0.004990	0	0
CHEK1	1111	broad.mit.edu	37	11	125499295	125499295	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:125499295C>T	ENST00000534070.1	+	5	619	c.364C>T	c.(364-366)Cat>Tat	p.H122Y	CHEK1_ENST00000438015.1_Missense_Mutation_p.H122Y|CHEK1_ENST00000278916.3_Missense_Mutation_p.H122Y|CHEK1_ENST00000544373.1_Missense_Mutation_p.H122Y|CHEK1_ENST00000524737.1_Missense_Mutation_p.H122Y|CHEK1_ENST00000427383.2_Missense_Mutation_p.H138Y|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Missense_Mutation_p.H122Y	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	122	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.H122Y(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GGTTTATCTGCATGGTATTGG	0.318000								Other conserved DNA damage response genes					22	54					0	0	0.014323	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													5	27					0	0	0.000602	0	0
LRRC58	116064	broad.mit.edu	37	3	120054769	120054769	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr3:120054769T>C	ENST00000295628.3	-	2	627	c.532A>G	c.(532-534)Att>Gtt	p.I178V		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	178								p.I178V(1)		large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		ATTTCTTTAATGAAATTTCCT	0.318000													28	27					0	0	0.005443	0	0
RIN1	9610	broad.mit.edu	37	11	66099844	66099844	+	Missense_Mutation	SNP	G	G	A	rs3181770		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:66099844G>A	ENST00000311320.4	-	10	2381	c.2255C>T	c.(2254-2256)tCt>tTt	p.S752F	RIN1_ENST00000530056.1_Missense_Mutation_p.S586F|RIN1_ENST00000424433.2_Intron	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	752					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	p.S752F(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGTTGTCTCAGACTGTTCCCG	0.632000													58	100					0	0	0.014410	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101449283	101449283	+	RNA	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr14:101449283G>T	ENST00000554693.2	+	0	717				SNORD114-22_ENST00000365423.1_RNA																							ATGACTACCGGTGGCGTATGA	0.373000													36	79					5.44703e-19	9.27219e-19	0.009718	1	0
OR52M1	119772	broad.mit.edu	37	11	4566472	4566472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr11:4566472G>T	ENST00000360213.1	+	1	52	c.52G>T	c.(52-54)Ggc>Tgc	p.G18C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G18C(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGCTCACTGGCATCCCAGG	0.532000													25	60					2.21704e-12	3.29295e-12	0.002780	1	0
IL17RA	23765	broad.mit.edu	37	22	17589773	17589773	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr22:17589773G>T	ENST00000319363.6	+	13	1797	c.1664G>T	c.(1663-1665)gGg>gTg	p.G555V		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	555					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	p.G555V(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GAGCTGTCGGGGGACAACTAC	0.677000													4	12					0.00909568	0.0098781	0.009096	1	0
C1orf222	339457	broad.mit.edu	37	1	1919959	1919959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr1:1919959delC	ENST00000434971.2	-	4	320	c.288delG	c.(286-288)gafs	p.E96fs				Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222	0										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTCATCTTCTCAGTGAAAA	0.582													20	69	---	---	---	---					
CTNNA2	1496	broad.mit.edu	37	2	80101445	80101446	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr2:80101445_80101446insC	ENST00000466387.1	+	10	1553_1554	c.829_830insC	c.(829-831)tgcfs	p.C277fs	CTNNA2_ENST00000496558.1_Frame_Shift_Ins_p.C277fs|CTNNA2_ENST00000541047.1_Frame_Shift_Ins_p.C277fs|CTNNA2_ENST00000540488.1_Frame_Shift_Ins_p.C277fs|CTNNA2_ENST00000402739.4_Frame_Shift_Ins_p.C277fs|CTNNA2_ENST00000361291.4_Frame_Shift_Ins_p.C311fs			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	277					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGGCGAGCTGGCTGCGGCTCTT	0.545													31	69	---	---	---	---					
BHLHE40	8553	broad.mit.edu	37	3	5024990	5024991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr3:5024990_5024991insC	ENST00000256495.3	+	5	1455_1456	c.852_853insC	c.(850-855)gaccccfs	p.DP284fs		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	284						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AGTCCGAAGAACCCCCCACAAA	0.559													16	40	---	---	---	---					
LOC102546299	102546299	broad.mit.edu	37	5	164028240	164028241	+	RNA	INS	-	-	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr5:164028240_164028241insT	ENST00000486913.3	+	0	418_419				CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000519750.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA																							CTTCTCTATGGTCGGCGCCTCC	0.624													6	5	---	---	---	---					
AMPH	273	broad.mit.edu	37	7	38502605	38502605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr7:38502605delG	ENST00000356264.2	-	10	1073	c.858delC	c.(856-858)ccfs	p.P286fs	AMPH_ENST00000325590.5_Frame_Shift_Del_p.P286fs|AMPH_ENST00000428293.2_Frame_Shift_Del_p.P286fs	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	286					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGCTGGTGCGGGAGACGCAG	0.547													34	78	---	---	---	---					
NUTM2B	729262	broad.mit.edu	37	10	81471492	81471494	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:81471492_81471494delCAG	ENST00000429828.1	+	7	2271_2273	c.1888_1890delCAG	c.(1888-1890)del	p.Q630del	RP11-119F19.2_ENST00000600376.1_RNA|NUTM2B_ENST00000372321.1_Intron|RP11-119F19.2_ENST00000596088.1_RNA|RP11-119F19.2_ENST00000601369.1_RNA|NUTM2B_ENST00000448135.1_Intron	NM_001278495.1	NP_001265424.1																					GAAGGAGAAACAGCATGCGAGGG	0.626													7	134	---	---	---	---					
RP11-34D15.2	0	broad.mit.edu	37	10	102104601	102104601	+	RNA	DEL	T	T	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr10:102104601delT	ENST00000429420.1	-	0	103																											AAAATCACAAttttttttttt	0.403													4	8	---	---	---	---					
KRT6B	3854	broad.mit.edu	37	12	52845639	52845639	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:52845639delC	ENST00000252252.3	-	1	271	c.224delG	c.(223-225)gcfs	p.G75fs		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	75	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGCACAGCTGCCCCCTCCAAT	0.647													10	33	---	---	---	---					
MGAT4C	25834	broad.mit.edu	37	12	86373314	86373314	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr12:86373314delC	ENST00000604798.1	-	8	2394	c.1190delG	c.(1189-1191)gafs	p.G397fs	MGAT4C_ENST00000548651.1_Frame_Shift_Del_p.G397fs|MGAT4C_ENST00000393205.2_Frame_Shift_Del_p.G426fs|MGAT4C_ENST00000549405.2_Frame_Shift_Del_p.G397fs|MGAT4C_ENST00000552808.2_Frame_Shift_Del_p.G397fs|MGAT4C_ENST00000332156.1_Frame_Shift_Del_p.G397fs			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	397					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATCTTCTGTTCCAGTATTTAC	0.343													16	43	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)ggg>g	p.DG57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													7	360	---	---	---	---					
PIK3R5	23533	broad.mit.edu	37	17	8794155	8794155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr17:8794155delC	ENST00000447110.1	-	7	681	c.557delG	c.(556-558)gafs	p.G186fs	PIK3R5_ENST00000584803.1_Frame_Shift_Del_p.G186fs|PIK3R5_ENST00000581552.1_Frame_Shift_Del_p.G186fs	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	186					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGCGAGTGTCCGGGCGTACT	0.642													8	28	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													2	4	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													9	189	---	---	---	---					
SLC17A9	63910	broad.mit.edu	37	20	61597059	61597059	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chr20:61597059delT	ENST00000370349.3	+	11	1229	c.1025delT	c.(1024-1026)ccfs	p.L342fs	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Frame_Shift_Del_p.L348fs			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	348					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCCATCGGCCTCCAGACCTTC	0.642													48	127	---	---	---	---					
L1CAM	3897	broad.mit.edu	37	X	153135618	153135620	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	3588228a-2ade-4230-a5c6-6599dbbbae3e	g.chrX:153135618_153135620delTTG	ENST00000370060.1	-	9	1071_1073	c.882_884delCAA	c.(880-885)aag>aa	p.NK294del	L1CAM_ENST00000361981.3_In_Frame_Del_p.NK289del|L1CAM_ENST00000370055.1_In_Frame_Del_p.NK289del|L1CAM_ENST00000543994.1_In_Frame_Del_p.NK296del|L1CAM_ENST00000361699.4_In_Frame_Del_p.NK294del|L1CAM_ENST00000538883.1_In_Frame_Del_p.NK296del|L1CAM_ENST00000370057.3_In_Frame_Del_p.NK294del	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	294	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGGGTCTTGTTGTGGTTCT	0.631													106	277	---	---	---	---					
C1orf222	339457	broad.mit.edu	37	1	1919959	1919959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr1:1919959delC	ENST00000434971.2	-	4	320	c.288delG	c.(286-288)gafs	p.E96fs				Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222	0										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTCATCTTCTCAGTGAAAA	0.582													20	69	---	---	---	---					
CTNNA2	1496	broad.mit.edu	37	2	80101445	80101446	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr2:80101445_80101446insC	ENST00000466387.1	+	10	1553_1554	c.829_830insC	c.(829-831)tgcfs	p.C277fs	CTNNA2_ENST00000361291.4_Frame_Shift_Ins_p.C311fs|CTNNA2_ENST00000496558.1_Frame_Shift_Ins_p.C277fs|CTNNA2_ENST00000402739.4_Frame_Shift_Ins_p.C277fs|CTNNA2_ENST00000541047.1_Frame_Shift_Ins_p.C277fs|CTNNA2_ENST00000540488.1_Frame_Shift_Ins_p.C277fs			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	277					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGGCGAGCTGGCTGCGGCTCTT	0.545													31	69	---	---	---	---					
BHLHE40	8553	broad.mit.edu	37	3	5024990	5024991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr3:5024990_5024991insC	ENST00000256495.3	+	5	1455_1456	c.852_853insC	c.(850-855)gaccccfs	p.DP284fs		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	284						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AGTCCGAAGAACCCCCCACAAA	0.559													16	40	---	---	---	---					
LOC102546299	102546299	broad.mit.edu	37	5	164028240	164028241	+	RNA	INS	-	-	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr5:164028240_164028241insT	ENST00000486913.3	+	0	418_419				CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000519750.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA																							CTTCTCTATGGTCGGCGCCTCC	0.624													6	5	---	---	---	---					
AMPH	273	broad.mit.edu	37	7	38502605	38502605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr7:38502605delG	ENST00000356264.2	-	10	1073	c.858delC	c.(856-858)ccfs	p.P286fs	AMPH_ENST00000325590.5_Frame_Shift_Del_p.P286fs|AMPH_ENST00000428293.2_Frame_Shift_Del_p.P286fs	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	286					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGCTGGTGCGGGAGACGCAG	0.547													34	78	---	---	---	---					
NUTM2B	729262	broad.mit.edu	37	10	81471492	81471494	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr10:81471492_81471494delCAG	ENST00000429828.1	+	7	2271_2273	c.1888_1890delCAG	c.(1888-1890)del	p.Q630del	RP11-119F19.2_ENST00000600376.1_RNA|RP11-119F19.2_ENST00000601369.1_RNA|NUTM2B_ENST00000448135.1_Intron|NUTM2B_ENST00000372321.1_Intron|RP11-119F19.2_ENST00000596088.1_RNA	NM_001278495.1	NP_001265424.1																					GAAGGAGAAACAGCATGCGAGGG	0.626													7	134	---	---	---	---					
KRT6B	3854	broad.mit.edu	37	12	52845639	52845639	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:52845639delC	ENST00000252252.3	-	1	271	c.224delG	c.(223-225)gcfs	p.G75fs		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	75	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGCACAGCTGCCCCCTCCAAT	0.647													10	33	---	---	---	---					
MGAT4C	25834	broad.mit.edu	37	12	86373314	86373314	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr12:86373314delC	ENST00000604798.1	-	8	2394	c.1190delG	c.(1189-1191)gafs	p.G397fs	MGAT4C_ENST00000552808.2_Frame_Shift_Del_p.G397fs|MGAT4C_ENST00000548651.1_Frame_Shift_Del_p.G397fs|MGAT4C_ENST00000332156.1_Frame_Shift_Del_p.G397fs|MGAT4C_ENST00000393205.2_Frame_Shift_Del_p.G426fs|MGAT4C_ENST00000549405.2_Frame_Shift_Del_p.G397fs			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	397					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATCTTCTGTTCCAGTATTTAC	0.343													16	43	---	---	---	---					
ZC3H13	23091	broad.mit.edu	37	13	46543921	46543922	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr13:46543921_46543922insT	ENST00000242848.4	-	14	3105_3106	c.2757_2758insA	c.(2755-2760)aaagagfs	p.E920fs	ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.E920fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	920							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGTTCTCTCTGTTTATCTACAG	0.450													109	249	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)ggg>g	p.DG57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													7	360	---	---	---	---					
PIK3R5	23533	broad.mit.edu	37	17	8794155	8794155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr17:8794155delC	ENST00000447110.1	-	7	681	c.557delG	c.(556-558)gafs	p.G186fs	PIK3R5_ENST00000584803.1_Frame_Shift_Del_p.G186fs|PIK3R5_ENST00000581552.1_Frame_Shift_Del_p.G186fs	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	186					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGCGAGTGTCCGGGCGTACT	0.642													8	28	---	---	---	---					
SLC17A9	63910	broad.mit.edu	37	20	61597059	61597059	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chr20:61597059delT	ENST00000370349.3	+	11	1229	c.1025delT	c.(1024-1026)ccfs	p.L342fs	SLC17A9_ENST00000370351.4_Frame_Shift_Del_p.L348fs|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	348					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCCATCGGCCTCCAGACCTTC	0.642													48	127	---	---	---	---					
L1CAM	3897	broad.mit.edu	37	X	153135618	153135620	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-44-6776-01A-11D-1855-08	TCGA-44-6776-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3c5101-fae2-4320-a8a2-a93753375368	7cbe4840-15bd-4f86-a19d-4d2f6b1bd281	g.chrX:153135618_153135620delTTG	ENST00000370060.1	-	9	1071_1073	c.882_884delCAA	c.(880-885)aag>aa	p.NK294del	L1CAM_ENST00000370055.1_In_Frame_Del_p.NK289del|L1CAM_ENST00000361699.4_In_Frame_Del_p.NK294del|L1CAM_ENST00000370057.3_In_Frame_Del_p.NK294del|L1CAM_ENST00000361981.3_In_Frame_Del_p.NK289del|L1CAM_ENST00000543994.1_In_Frame_Del_p.NK296del|L1CAM_ENST00000538883.1_In_Frame_Del_p.NK296del	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	294	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGGGTCTTGTTGTGGTTCT	0.631													106	277	---	---	---	---					
